<p> Genetics References</p><p>Clinical studies</p><p>1. Fra(X)(p22) not associated with infantile autism. Lancet 1984; 2(8416): 1397.</p><p>2. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. Hum Mol Genet 1998; 7(3): 571-578.</p><p>3. An autosomal genomic screen for autism. Am J Med Genet 2001; 105(8): 609-615.</p><p>4. Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 2001; 105(8): 539-547.</p><p>5. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001; 69(3): 570-581.</p><p>6. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 2001; 10(9): 973-982.</p><p>7. Chromosome "hot spot" linked to autism. Harv Ment Health Lett 2008; 24(11): 7.</p><p>8. Special report: aCGH for the genetic evaluation of patients with developmental delay/mental retardation or autism spectrum disorder. Technol Eval Cent Asses Program Exec Summ 2009; 23(10): 1-5.</p><p>9. Abdul-Rahman OA, Hudgins L. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genet Med 2006; 8(1): 50-54.</p><p>10. Abramson RK, Wright HH. Autism: the difficult hunt for disease genes. J S C Med Assoc 2006; 102(8): 277-279.</p><p>11. Abu-Amero KK, Hellani AM, Salih MA, Seidahmed MZ, Elmalik TS, Zidan G et al. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation. BMC Med Genet 2010; 11: 135.</p><p>12. Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH et al. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics 2008; 9(3): 153-161.</p><p>13. Adams M, Lucock M, Stuart J, Fardell S, Baker K, Ng X. Preliminary evidence for involvement of the folate gene polymorphism 19bp deletion-DHFR in occurrence of autism. Neurosci Lett 2007; 422(1): 24-29.</p><p>1 14. Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N et al. A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Mol Psychiatry 2010.</p><p>15. Adegbola A, Gao H, Sommer S, Browning M. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). Am J Med Genet A 2008; 146A(4): 505- 511.</p><p>16. Akbarian S. Clinical experts on Rett disorder. Pediatr Rehabil 2002; 5(2): 117-118.</p><p>17. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82(1): 150-159.</p><p>18. Alarcon M, Cantor RM, Liu J, Gilliam TC, Geschwind DH. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002; 70(1): 60-71.</p><p>19. Alarcon M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH. Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs. Mol Psychiatry 2005; 10(8): 747-757.</p><p>20. Allen-Brady K, Cannon D, Robison R, McMahon WM, Coon H. A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families. Autism Res 2010; 3(2): 47-52.</p><p>21. Allen-Brady K, Miller J, Matsunami N, Stevens J, Block H, Farley M et al. A high- density SNP genome-wide linkage scan in a large autism extended pedigree. Mol Psychiatry 2009; 14(6): 590-600.</p><p>22. Alpert M. The autism diet. Sci Am 2007; 296(4): 19-20.</p><p>23. Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA et al. Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet 2008; 17(24): 3887-3896.</p><p>24. Aman MG. Treatment planning for patients with autism spectrum disorders. J Clin Psychiatry 2005; 66 Suppl 10: 38-45.</p><p>25. Anderson BM, Schnetz-Boutaud NC, Bartlett J, Wotawa AM, Wright HH, Abramson RK et al. Examination of association of genes in the serotonin system to autism. Neurogenetics 2009; 10(3): 209-216.</p><p>26. Anderson GM. Genetics of childhood disorders: XLV. Autism, part 4: serotonin in autism. J Am Acad Child Adolesc Psychiatry 2002; 41(12): 1513-1516.</p><p>2 27. Anderson GM, Gutknecht L, Cohen DJ, Brailly-Tabard S, Cohen JH, Ferrari P et al. Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia. Mol Psychiatry 2002; 7(8): 831-836.</p><p>28. Anitha A, Nakamura K, Yamada K, Suda S, Thanseem I, Tsujii M et al. Genetic analyses of roundabout (ROBO) axon guidance receptors in autism. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(7): 1019-1027.</p><p>29. Anneren G, Dahl N, Uddenfeldt U, Janols LO. Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11). Am J Med Genet 1995; 56(3): 330- 331.</p><p>30. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010; 19(20): 4072-4082.</p><p>31. Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K et al. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord 2007; 37(9): 1776-1786.</p><p>32. Anvret M, Gillberg C, Wahlstrom J, Albertsson-Wikland K, Davies K. Infantile autism, fragile (X) (q27.3) and RFLP analysis in an extended Swedish family. Clin Genet 1988; 34(4): 265-271.</p><p>33. Arieff Z, Kaur M, Gameeldien H, van der Merwe L, Bajic VB. 5-HTTLPR polymorphism: analysis in South African autistic individuals. Hum Biol 2010; 82(3): 291-300.</p><p>34. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82(1): 160-164.</p><p>35. Armstrong DD. Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain? Brain Dev 2005; 27 Suppl 1: S72-S76.</p><p>36. Armstrong DD, Deguchi K, Antallfy B. Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. J Child Neurol 2003; 18(10): 683-687.</p><p>37. Armstrong J, Aibar E, Pineda M, Perez MM, Gean E, Carrera M et al. Prenatal diagnosis in Rett syndrome. Fetal Diagn Ther 2002; 17(4): 200-204.</p><p>38. Arrieta I, Lobato MN, Martinez B, Criado B. Parental origin of Robertsonian translocation (15q22q) and Prader Willi syndrome associated with autism. Psychiatr Genet 1994; 4(1): 63-65.</p><p>39. Arrieta I, Nunez T, Martinez B, Perez A, Telez M, Criado B et al. Chromosomal fragility in a behavioral disorder. Behav Genet 2002; 32(6): 397-412. 3 40. Aschner M, Ceccatelli S. Are neuropathological conditions relevant to ethylmercury exposure? Neurotox Res 2010; 18(1): 59-68.</p><p>41. Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL et al. Genetic studies of autistic disorder and chromosome 7. Genomics 1999; 61(3): 227-236.</p><p>42. Ashley-Koch AE, Jaworski J, Ma de Q, Mei H, Ritchie MD, Skaar DA et al. Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk. Psychiatr Genet 2007; 17(4): 221-226.</p><p>43. Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM et al. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. Ann Hum Genet 2006; 70(Pt 3): 281-292.</p><p>44. Assumpcao F, Santos RC, Rosario M, Mercadante M. Brief report: autism and Aarskog syndrome. J Autism Dev Disord 1999; 29(2): 179-181.</p><p>45. Assumpcao Junior FB. Brief report: a case of chromosome 22 alteration associated with autistic syndrome. J Autism Dev Disord 1998; 28(3): 253-256.</p><p>46. Atladottir HO, Pedersen MG, Thorsen P, Mortensen PB, Deleuran B, Eaton WW et al. Association of family history of autoimmune diseases and autism spectrum disorders. Pediatrics 2009; 124(2): 687-694.</p><p>47. August GJ. A genetic marker associated with infantile autism. Am J Psychiatry 1983; 140(6): 813.</p><p>48. Auranen M, Nieminen T, Majuri S, Vanhala R, Peltonen L, Jarvela I. Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families. Mol Psychiatry 2000; 5(3): 320-322.</p><p>49. Auranen M, Vanhala R, Jarvela I. [First gene connected to autism spectrum disorders has been found]. Duodecim 2000; 116(20): 2185-2187.</p><p>50. Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T et al. A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet 2002; 71(4): 777-790.</p><p>51. Auranen M, Varilo T, Alen R, Vanhala R, Ayers K, Kempas E et al. Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland. Mol Psychiatry 2003; 8(10): 879-884.</p><p>4 52. Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet 2010; 87(3): 316-324.</p><p>53. Azzoni A, Raja M. [A case of pervasive developmental disorder with chromosomal translocation (X; 4) (p11; q13)]. Encephale 2006; 32(3 Pt 1): 325-327.</p><p>54. Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res 2009; 2(6): 359-364.</p><p>55. Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G et al. Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Mol Psychiatry 2003; 8(11): 916-924.</p><p>56. Badner JA, Gershon ES. Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. Mol Psychiatry 2002; 7(1): 56-66.</p><p>57. Bailey A, Bolton P, Butler L, Le Couteur A, Murphy M, Scott S et al. Prevalence of the fragile X anomaly amongst autistic twins and singletons. J Child Psychol Psychiatry 1993; 34(5): 673-688.</p><p>58. Bailey A, Parr J. Implications of the broader phenotype for concepts of autism. Novartis Found Symp 2003; 251: 26-35; discussion 36-47, 109-111, 281-197.</p><p>59. Bakare MO, Ikegwuonu NN. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report. J Med Case Reports 2008; 2: 56.</p><p>60. Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008; 82(1): 165-173.</p><p>61. Barbosa-Goncalves A, Vendrame-Goloni CB, Martins AL, Fett-Conte AC. Subtelomeric region of chromosome 2 in patients with autism spectrum disorders. Genet Mol Res 2008; 7(2): 527-533.</p><p>62. Barnby G, Abbott A, Sykes N, Morris A, Weeks DE, Mott R et al. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet 2005; 76(6): 950-966.</p><p>63. Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC et al. Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes. Hum Mol Genet 2006; 15(6): 853-869.</p><p>5 64. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL et al. An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet 1999; 88(6): 609-615.</p><p>65. Bartlett CW, Goedken R, Vieland VJ. Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set. Am J Hum Genet 2005; 76(4): 688-695.</p><p>66. Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER et al. Genetic studies in autistic disorder and chromosome 15. Neurogenetics 2000; 2(4): 219-226.</p><p>67. Battaglia A, Bonaglia MC. The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders. Am J Med Genet C Semin Med Genet 2006; 142C(1): 8-12.</p><p>68. Battaglia A, Carey JC. Etiologic yield of autistic spectrum disorders: a prospective study. Am J Med Genet C Semin Med Genet 2006; 142C(1): 3-7.</p><p>69. Bayou N, Belhadj A, Daoud H, Briault S, Helayem MB, Chaabouni H et al. Exploring the 7p22.1 chromosome as a candidate region for autism. J Biomed Biotechnol 2010; 2010: 423894.</p><p>70. Bayou N, M'Rad R, Belhaj A, Daoud H, Ben Jemaa L, Zemni R et al. De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder. J Biomed Biotechnol 2008; 2008: 231904.</p><p>71. Becker KG, Schultz ST. Similarities in features of autism and asthma and a possible link to acetaminophen use. Med Hypotheses 2010; 74(1): 7-11.</p><p>72. Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, Daza RA et al. Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology. Gene Expr Patterns 2010; 10(1): 9- 15.</p><p>73. Behjati F, Shafaghati Y, Firouzabadi SG, Kahrizi K, Bagherizadeh I, Najmabadi H et al. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism. Eur J Med Genet 2008; 51(6): 608-614.</p><p>74. Benayed R, Choi J, Matteson PG, Gharani N, Kamdar S, Brzustowicz LM et al. Autism- associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2. Biol Psychiatry 2009; 66(10): 911-917.</p><p>75. Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S et al. Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. Am J Hum Genet 2005; 77(5): 851-868.</p><p>76. Benezech M, Noel B. Fra (X) syndrome and autism. Clin Genet 1985; 28(1): 93. 6 77. Benezech M, Noel B, Noel L, Bourgeois M. [Fragile X chromosome and autistic mental retardation. Apropos of 23 cases]. Ann Med Psychol (Paris) 1983; 141(9): 1006-1011.</p><p>78. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009; 46(6): 382-388.</p><p>79. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J et al. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007; 9(7): 427-441.</p><p>80. Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 2010; 42(6): 489-491.</p><p>81. Betancur C, Corbex M, Spielewoy C, Philippe A, Laplanche JL, Launay JM et al. Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder. Mol Psychiatry 2002; 7(1): 67-71.</p><p>82. Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet 2002; 111(4- 5): 305-309.</p><p>83. Beyer KS, Klauck SM, Benner A, Poustka F, Poustka A. Association studies of the HOPA dodecamer duplication variant in different subtypes of autism. Am J Med Genet 2002; 114(1): 110-115.</p><p>84. Beyer KS, Klauck SM, Wiemann S, Poustka A. Construction of a physical map of an autism susceptibility region in 7q32.3-q33. Gene 2001; 272(1-2): 85-91.</p><p>85. Bhat SS, Ladd S, Grass F, Spence JE, Brasington CK, Simensen RJ et al. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. Clin Genet 2008; 73(1): 94-96.</p><p>86. Blackman JA, Selzer SC, Patil S, Van Dyke DC. Autistic disorder associated with an iso- dicentric Y chromosome. Dev Med Child Neurol 1991; 33(2): 162-166.</p><p>87. Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ et al. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Eur J Hum Genet 2006; 14(1): 123-126.</p><p>88. Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E. Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(3): 220-221. 7 89. Blomquist HK, Bohman M, Edvinsson SO, Gillberg C, Gustavson KH, Holmgren G et al. Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin Genet 1985; 27(2): 113-117.</p><p>90. Blondis TA, Cook E, Jr., Koza-Taylor P, Finn T. Asperger syndrome associated with Steinert's myotonic dystrophy. Dev Med Child Neurol 1996; 38(9): 840-847.</p><p>91. Boccone L, Dessi V, Zappu A, Piga S, Piludu MB, Rais M et al. Bannayan-Riley- Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. Am J Med Genet A 2006; 140(18): 1965-1969.</p><p>92. Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M et al. A case-control family history study of autism. J Child Psychol Psychiatry 1994; 35(5): 877-900.</p><p>93. Bolton P, Powell J, Rutter M, Buckle V, Yates JR, Ishikawa-Brush Y et al. Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8) (p22.13;q22.1). Psychiatr Genet 1995; 5(2): 51-55.</p><p>94. Bolton P, Rutter M, Butler L, Summers D. Females with autism and the fragile X. J Autism Dev Disord 1989; 19(3): 473-476.</p><p>95. Bolton PF. Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis. Ment Retard Dev Disabil Res Rev 2004; 10(2): 126-131.</p><p>96. Bolton PF, Griffiths PD. Association of tuberous sclerosis of temporal lobes with autism and atypical autism. Lancet 1997; 349(9049): 392-395.</p><p>97. Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA et al. Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatr Genet 2004; 14(3): 131-137.</p><p>98. Bonati MT, Finelli P, Giardino D, Gottardi G, Roberts W, Larizza L. Trisomy 15q25.2- qter in an autistic child: genotype-phenotype correlations. Am J Med Genet A 2005; 133A(2): 184-188.</p><p>99. Bonnet C, Gregoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. J Hum Genet 2006; 51(9): 815-821.</p><p>100. Bonora E, Bacchelli E, Levy ER, Blasi F, Marlow A, Monaco AP et al. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Mol Psychiatry 2002; 7(3): 289-301.</p><p>101. Bonora E, Beyer KS, Lamb JA, Parr JR, Klauck SM, Benner A et al. Analysis of reelin as a candidate gene for autism. Mol Psychiatry 2003; 8(10): 885-892. 8 102. Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS et al. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet 2005; 13(2): 198-207.</p><p>103. Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L et al. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J Med Genet 2002; 39(6): 391-399.</p><p>104. Borgatti R, Piccinelli P, Passoni D, Raggi E, Ferrarese C. Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15. J Child Neurol 2001; 16(12): 911-914.</p><p>105. Bottini N, De Luca D, Saccucci P, Fiumara A, Elia M, Porfirio MC et al. Autism: evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics 2001; 3(2): 111-113.</p><p>106. Bozdagi O, Sakurai T, Papapetrou D, Wang X, Dickstein DL, Takahashi N et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism 2010; 1(1): 15.</p><p>107. Brandau DT, Lund M, Cooley LD, Sanger WG, Butler MG. Autistic and dysmorphic features associated with a submicroscopic 2q33.3-q34 interstitial deletion detected by array comparative genomic hybridization. Am J Med Genet A 2008; 146A(4): 521-524.</p><p>108. Braun NN, Reutiman TJ, Lee S, Folsom TD, Fatemi SH. Expression of phosphodiesterase 4 is altered in the brains of subjects with autism. Neuroreport 2007; 18(17): 1841-1844.</p><p>109. Bremer A, Giacobini M, Nordenskjold M, Brondum-Nielsen K, Mansouri M, Dahl N et al. Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(1): 280-285.</p><p>110. Brown WT, Friedman E, Jenkins EC, Brooks J, Wisniewski K, Raguthu S et al. Association of fragile X syndrome with autism. Lancet 1982; 1(8263): 100.</p><p>111. Brown WT, Jenkins EC, Cohen IL, Fisch GS, Wolf-Schein EG, Gross A et al. Fragile X and autism: a multicenter survey. Am J Med Genet 1986; 23(1-2): 341-352.</p><p>112. Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S et al. Autism is associated with the fragile-X syndrome. J Autism Dev Disord 1982; 12(3): 303-308.</p><p>113. Bruining H, de Sonneville L, Swaab H, de Jonge M, Kas M, van Engeland H et al. Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS One 2010; 5(5): e10887. 9 114. Brune CW, Kim SJ, Hanna GL, Courchesne E, Lord C, Leventhal BL et al. Family- Based Association Testing of OCD-associated SNPs of SLC1A1 in an autism sample. Autism Res 2008; 1(2): 108-113.</p><p>115. Brune CW, Kim SJ, Salt J, Leventhal BL, Lord C, Cook EH, Jr. 5-HTTLPR Genotype- Specific Phenotype in Children and Adolescents With Autism. Am J Psychiatry 2006; 163(12): 2148-2156.</p><p>116. Brune CW, Korvatska E, Allen-Brady K, Cook EH, Jr., Dawson G, Devlin B et al. Heterogeneous association between engrailed-2 and autism in the CPEA network. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(2): 187-193.</p><p>117. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009; 5(6): e1000536.</p><p>118. Budimirovic DB, Bukelis I, Cox C, Gray RM, Tierney E, Kaufmann WE. Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal. Am J Med Genet A 2006; 140A(17): 1814-1826.</p><p>119. Buizer-Voskamp JE, Franke L, Staal WG, van Daalen E, Kemner C, Ophoff RA et al. Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism. Eur J Hum Genet 2010; 18(5): 588-595.</p><p>120. Bukelis I, Porter FD, Zimmerman AW, Tierney E. Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am J Psychiatry 2007; 164(11): 1655-1661.</p><p>121. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA. Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Neurol 1994; 36(8): 736-742.</p><p>122. Burd L, Kerbeshian J. Familial pervasive development disorder, Tourette disorder and hyperlexia. Neurosci Biobehav Rev 1988; 12(3-4): 233-234.</p><p>123. Burd L, Kerbeshinn J, Fisher W, Martsolf JT. A case of autism and mosaic of trisomy 8. J Autism Dev Disord 1985; 15(3): 351-352.</p><p>124. Burd L, Martsolf JT, Kerbeshian J, Jalal SM. Partial 6p trisomy associated with infantile autism. Clin Genet 1988; 33(5): 356-359.</p><p>125. Burusnukul P, de Los Reyes EC, Yinger J, Boue DR. Danon disease: an unusual presentation of autism. Pediatr Neurol 2008; 39(1): 52-54.</p><p>10 126. Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42(4): 318-321.</p><p>127. Buttenschon HN, Lauritsen MB, El Daoud A, Hollegaard M, Jorgensen M, Tvedegaard K et al. A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. J Neural Transm 2009; 116(3): 381-388.</p><p>128. Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reichert J et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(4): 484-491.</p><p>129. Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J et al. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. BMC Med Genet 2007; 8: 68.</p><p>130. Buxbaum JD, Silverman J, Keddache M, Smith CJ, Hollander E, Ramoz N et al. Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. Mol Psychiatry 2004; 9(2): 144-150.</p><p>131. Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J et al. Association between a GABRB3 polymorphism and autism. Mol Psychiatry 2002; 7(3): 311-316.</p><p>132. Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, Hollander E et al. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 2001; 68(6): 1514-1520.</p><p>133. Buyske S, Williams TA, Mars AE, Stenroos ES, Ming SX, Wang R et al. Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism. BMC Genet 2006; 7: 8.</p><p>134. Caglayan AO, Gumus H. Autism with del15p.11.1: case report with a new cytogenetic finding. Genet Couns 2010; 21(2): 199-204.</p><p>135. Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG et al. Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics 2008; 1: 50.</p><p>136. Campbell DB, Buie TM, Winter H, Bauman M, Sutcliffe JS, Perrin JM et al. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions. Pediatrics 2009; 123(3): 1018-1024.</p><p>11 137. Campbell DB, D'Oronzio R, Garbett K, Ebert PJ, Mirnics K, Levitt P et al. Disruption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 2007; 62(3): 243-250.</p><p>138. Campbell DB, Li C, Sutcliffe JS, Persico AM, Levitt P. Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. Autism Res 2008; 1(3): 159-168.</p><p>139. Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S et al. A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 2006; 103(45): 16834-16839.</p><p>140. Campbell DB, Warren D, Sutcliffe JS, Lee EB, Levitt P. Association of MET with social and communication phenotypes in individuals with autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(2): 438-446.</p><p>141. Cannon DS, Miller JS, Robison RJ, Villalobos ME, Wahmhoff NK, Allen-Brady K et al. Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders. Mol Autism 2010; 1(1): 3.</p><p>142. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcon M et al. Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet 2005; 76(6): 1050-1056.</p><p>143. Cantu ES, Stone JW, Wing AA, Langee HR, Williams CA. Cytogenetic survey for autistic fragile X carriers in a mental retardation center. Am J Ment Retard 1990; 94(4): 442-447.</p><p>144. Carayol J, Schellenberg GD, Tores F, Hager J, Ziegler A, Dawson G. Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk. Mol Autism 2010; 1(1): 4.</p><p>145. Carmona-Mora P, Walz K. Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. Curr Genomics 2010; 11(8): 607-617.</p><p>146. Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 2003; 28(3): 205-211.</p><p>147. Carratala F, Galan F, Moya M, Estivill X, Pritchard MA, Llevadot R et al. A patient with autistic disorder and a 20/22 chromosomal translocation. Dev Med Child Neurol 1998; 40(7): 492-495.</p><p>12 148. Carreira IM, Melo JB, Rodrigues C, Backx L, Vermeesch J, Weise A et al. Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy. Mol Cytogenet 2009; 2: 16.</p><p>149. Carter M, Nikkel S, Fernandez B, Marshall C, Noor A, Lionel A et al. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clin Genet 2010.</p><p>150. Castermans D, Thienpont B, Volders K, Crepel A, Vermeesch JR, Schrander-Stumpel CT et al. Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. Eur J Hum Genet 2008; 16(10): 1187-1192.</p><p>151. Castermans D, Vermeesch JR, Fryns JP, Steyaert JG, Van de Ven WJ, Creemers JW et al. Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet 2007; 15(4): 422-431.</p><p>152. Castermans D, Wilquet V, Parthoens E, Huysmans C, Steyaert J, Swinnen L et al. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet 2003; 40(5): 352-356.</p><p>153. Chagnon YC. Shared chromosomal susceptibility regions between autism and other mental disorders. Int Rev Neurobiol 2005; 71: 419-443.</p><p>154. Chagnon YC. Shared susceptibility region on chromosome 15 between autism and catatonia. Int Rev Neurobiol 2006; 72: 165-178.</p><p>155. Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C et al. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res 2009; 2(3): 157-177.</p><p>156. Challman TD, Barbaresi WJ, Katusic SK, Weaver A. The yield of the medical evaluation of children with pervasive developmental disorders. J Autism Dev Disord 2003; 33(2): 187-192.</p><p>157. Chaste P, Clement N, Mercati O, Guillaume JL, Delorme R, Botros HG et al. Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population. PLoS One 2010; 5(7): e11495.</p><p>158. Chaste P, Nygren G, Anckarsater H, Rastam M, Coleman M, Leboyer M et al. Mutation screening of the ARX gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(2): 228-230.</p><p>159. Chen CP, Lin SP, Chern SR, Chen YJ, Tsai FJ, Wu PC et al. Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. Eur J Med Genet 2010; 53(4): 217-220.</p><p>13 160. Chen CP, Lin SP, Chern SR, Tsai FJ, Wu PC, Lee CC et al. A de novo 7.9 Mb deletion in 22q13.2-->qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings. Eur J Med Genet 2010; 53(5): 329- 332.</p><p>161. Chen GK, Kono N, Geschwind DH, Cantor RM. Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder. Mol Psychiatry 2006; 11(2): 214- 220.</p><p>162. Cheng L, Ge Q, Sun B, Yu P, Ke X, Lu Z. Polyacrylamide gel-based microarray: a novel method applied to the association Study between the polymorphisms of BDNF gene and autism. J Biomed Nanotechnol 2009; 5(5): 542-550.</p><p>163. Cheng L, Ge Q, Xiao P, Sun B, Ke X, Bai Y et al. Association study between BDNF gene polymorphisms and autism by three-dimensional gel-based microarray. Int J Mol Sci 2009; 10(6): 2487-2500.</p><p>164. Cheslack-Postava K, Fallin MD, Avramopoulos D, Connors SL, Zimmerman AW, Eberhart CG et al. beta2-Adrenergic receptor gene variants and risk for autism in the AGRE cohort. Mol Psychiatry 2007; 12(3): 283-291.</p><p>165. Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics 2001; 78(1-2): 7-11.</p><p>166. Chien WH, Gau SS, Wu YY, Huang YS, Fang JS, Chen YJ et al. Identification and molecular characterization of two novel chromosomal deletions associated with autism. Clin Genet 2010; 78(5): 449-456.</p><p>167. Chien WH, Wu YY, Gau SS, Huang YS, Soong WT, Chiu YN et al. Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan. Prog Neuropsychopharmacol Biol Psychiatry 2010; 34(1): 189-192.</p><p>168. Cho IH, Yoo HJ, Park M, Lee YS, Kim SA. Family-based association study of 5- HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios. Brain Res 2007; 1139: 34-41.</p><p>169. Cho SC, Yim SH, Yoo HK, Kim MY, Jung GY, Shin GW et al. Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization. Psychiatr Genet 2009; 19(4): 177-185.</p><p>170. Chodirker BN, Chudley AE. Routine genetic testing for Asperger syndrome. Genet Med 2008; 10(11): 843-845; author reply 845.</p><p>14 171. Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S et al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 2008; 63(12): 1111-1117.</p><p>172. Chubykin AA, Liu X, Comoletti D, Tsigelny I, Taylor P, Sudhof TC. Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism. J Biol Chem 2005; 280(23): 22365-22374.</p><p>173. Chudley AE, Gutierrez E, Jocelyn LJ, Chodirker BN. Outcomes of genetic evaluation in children with pervasive developmental disorder. J Dev Behav Pediatr 1998; 19(5): 321- 325.</p><p>174. Chung S, Hong JP, Yoo HK. Association of the DAO and DAOA gene polymorphisms with autism spectrum disorders in boys in Korea: a preliminary study. Psychiatry Res 2007; 153(2): 179-182.</p><p>175. Clifford S, Dissanayake C, Bui QM, Huggins R, Taylor AK, Loesch DZ. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord 2007; 37(4): 738-747.</p><p>176. Cochrane LE, Tansey KE, Gill M, Gallagher L, Anney RJ. Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample. Autism Res 2010; 3(6): 342-344.</p><p>177. Cohen IL, Brown WT, Jenkins EC, Krawczun MS, French JH, Raguthu S et al. Fragile X syndrome in females with autism. Am J Med Genet 1989; 34(2): 302-303.</p><p>178. Cohen IL, Liu X, Schutz C, White BN, Jenkins EC, Brown WT et al. Association of autism severity with a monoamine oxidase A functional polymorphism. Clin Genet 2003; 64(3): 190-197.</p><p>179. Collins AL, Ma D, Whitehead PL, Martin ER, Wright HH, Abramson RK et al. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics 2006; 7(3): 167-174.</p><p>180. Collins JS, Schroer RJ, Bird J, Michaelis RC. The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project. J Autism Dev Disord 2003; 33(3): 343-348.</p><p>181. Combi R, Redaelli S, Beghi M, Clerici M, Cornaggia CM, Dalpra L. Clinical and genetic evaluation of a family showing both autism and epilepsy. Brain Res Bull 2010; 82(1-2): 25-28.</p><p>182. Comings DE, Comings BG, Muhleman D, Dietz G, Shahbahrami B, Tast D et al. The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders. JAMA 1991; 266(13): 1793-1800. 15 183. Comings DE, Gade R, Muhleman D, Sverd J. No association of a tyrosine hydroxylase gene tetranucleotide repeat polymorphism in autism, Tourette syndrome, or ADHD. Biol Psychiatry 1995; 37(7): 484-486.</p><p>184. Comoletti D, De Jaco A, Jennings LL, Flynn RE, Gaietta G, Tsigelny I et al. The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. J Neurosci 2004; 24(20): 4889-4893.</p><p>185. Conciatori M, Stodgell CJ, Hyman SL, O'Bara M, Militerni R, Bravaccio C et al. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol Psychiatry 2004; 55(4): 413-419.</p><p>186. Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA. MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation. Biochem Biophys Res Commun 2010; 402(2): 443-447.</p><p>187. Connors SL, Crowell DE, Eberhart CG, Copeland J, Newschaffer CJ, Spence SJ et al. beta2-adrenergic receptor activation and genetic polymorphisms in autism: data from dizygotic twins. J Child Neurol 2005; 20(11): 876-884.</p><p>188. Conroy J, Cochrane L, Anney RJ, Sutcliffe JS, Carthy P, Dunlop A et al. Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32. Am J Med Genet B Neuropsychiatr Genet 2009; 150B(4): 535-544.</p><p>189. Conroy J, Meally E, Kearney G, Fitzgerald M, Gill M, Gallagher L. Serotonin transporter gene and autism: a haplotype analysis in an Irish autistic population. Mol Psychiatry 2004; 9(6): 587-593.</p><p>190. Cook EH, Jr., Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A et al. Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 1997; 2(3): 247-250.</p><p>191. Cook EH, Jr., Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ et al. Linkage- disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 1998; 62(5): 1077-1083.</p><p>192. Cook EH, Jr., Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997; 60(4): 928-934.</p><p>193. Coon H, Dunn D, Lainhart J, Miller J, Hamil C, Battaglia A et al. Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). Am J Med Genet B Neuropsychiatr Genet 2005; 135B(1): 42-46.</p><p>16 194. Coon H, Matsunami N, Stevens J, Miller J, Pingree C, Camp NJ et al. Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree. Hum Hered 2005; 60(4): 220-226.</p><p>195. Coon H, Villalobos ME, Robison RJ, Camp NJ, Cannon DS, Allen-Brady K et al. Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees. Mol Autism 2010; 1(1): 8.</p><p>196. Correia C, Coutinho AM, Almeida J, Lontro R, Lobo C, Miguel TS et al. Association of the alpha4 integrin subunit gene (ITGA4) with autism. Am J Med Genet B Neuropsychiatr Genet 2009; 150B(8): 1147-1151.</p><p>197. Correia C, Coutinho AM, Diogo L, Grazina M, Marques C, Miguel T et al. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. J Autism Dev Disord 2006; 36(8): 1137-1140.</p><p>198. Correia CT, Almeida JP, Santos PE, Sequeira AF, Marques CE, Miguel TS et al. Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions. Pharmacogenomics J 2010; 10(5): 418-430.</p><p>199. Correia CT, Coutinho AM, Sequeira AF, Sousa IG, Lourenco Venda L, Almeida JP et al. Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism. Genes Brain Behav 2010; 9(7): 841-848.</p><p>200. Coutinho AM, Oliveira G, Katz C, Feng J, Yan J, Yang C et al. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(4): 475-483.</p><p>201. Coutinho AM, Oliveira G, Morgadinho T, Fesel C, Macedo TR, Bento C et al. Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism. Mol Psychiatry 2004; 9(3): 264-271.</p><p>202. Coutinho AM, Sousa I, Martins M, Correia C, Morgadinho T, Bento C et al. Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. Hum Genet 2007; 121(2): 243-256.</p><p>203. Crepel A, Breckpot J, Fryns JP, De la Marche W, Steyaert J, Devriendt K et al. DISC1 duplication in two brothers with autism and mild mental retardation. Clin Genet 2010; 77(4): 389-394.</p><p>204. Cross S, Kim SJ, Weiss LA, Delahanty RJ, Sutcliffe JS, Leventhal BL et al. Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism. Neuropsychopharmacology 2008; 33(2): 353-360.</p><p>17 205. Crowe RR, Tsai LY, Murray JC, Patil SR, Quinn J. A study of autism using X chromosome DNA probes. Biol Psychiatry 1988; 24(4): 473-479.</p><p>206. Cukier HN, Rabionet R, Konidari I, Rayner-Evans MY, Baltos ML, Wright HH et al. Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. Neurogenetics 2010; 11(3): 291-303.</p><p>207. Cukier HN, Skaar DA, Rayner-Evans MY, Konidari I, Whitehead PL, Jaworski JM et al. Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility. Autism Res 2009; 2(5): 258-266.</p><p>208. Curran S, Powell J, Neale BM, Dworzynski K, Li T, Murphy D et al. An association analysis of candidate genes on chromosome 15 q11-13 and autism spectrum disorder. Mol Psychiatry 2006; 11(8): 709-713.</p><p>209. Curran S, Roberts S, Thomas S, Veltman M, Browne J, Medda E et al. An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2005; 137B(1): 25-28.</p><p>210. Cusco I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O et al. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet 2009; 18(10): 1795-1804.</p><p>211. D'Adamo P, Bacchelli E, Blasi F, Lipp HP, Toniolo D, Maestrini E. DNA variants in the human RAB3A gene are not associated with autism. Genes Brain Behav 2004; 3(2): 123- 124.</p><p>212. D'Amelio M, Ricci I, Sacco R, Liu X, D'Agruma L, Muscarella LA et al. Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interactions. Mol Psychiatry 2005; 10(11): 1006-1016.</p><p>213. Daniels WW, Warren RP, Odell JD, Maciulis A, Burger RA, Warren WL et al. Increased frequency of the extended or ancestral haplotype B44-SC30-DR4 in autism. Neuropsychobiology 1995; 32(3): 120-123.</p><p>214. Daoud H, Bonnet-Brilhault F, Vedrine S, Demattei MV, Vourc'h P, Bayou N et al. Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biol Psychiatry 2009; 66(10): 906-910.</p><p>215. Dauwerse JG, Ruivenkamp CA, Hansson K, Marijnissen GM, Peters DJ, Breuning MH et al. A complex chromosome 7q rearrangement identified in a patient with mental </p><p>18 retardation, anxiety disorder, and autistic features. Am J Med Genet A 2010; 152A(2): 427-433.</p><p>216. Davis LK, Hazlett HC, Librant AL, Nopoulos P, Sheffield VC, Piven J et al. Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(7): 1145-1151.</p><p>217. Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC et al. Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet 2008; 123(4): 371- 378.</p><p>218. Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC et al. Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord 2009; 1(4): 292-301.</p><p>219. De Braekeleer M, Tremblay M, Thivierge J. Genetic analysis of genealogies in mentally retarded autistic probands from Saguenay Lac-Saint-Jean (Quebec, Canada). Ann Genet 1996; 39(1): 47-50.</p><p>220. de Bruijn DR, van Dijk AH, Pfundt R, Hoischen A, Merkx GF, Gradek GA et al. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. Mol Syndromol 2010; 1(1): 46-57.</p><p>221. de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B et al. A common variant in DRD3 receptor is associated with autism spectrum disorder. Biol Psychiatry 2009; 65(7): 625-630.</p><p>222. de la Barra F, Skoknic V, Alliende A, Raimann E, Cortes F, Lacassie Y. [Twins with autism and mental retardation associated with balanced (7;20) chromosomal translocation]. Rev Chil Pediatr 1986; 57(6): 549-554.</p><p>223. Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M et al. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. Am J Med Genet A 2007; 143A(22): 2733-2737.</p><p>224. DeLong R. Autism and familial major mood disorder: are they related? J Neuropsychiatry Clin Neurosci 2004; 16(2): 199-213.</p><p>225. Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 2009; 66(4): 349-359.</p><p>226. Derwinska K, Bernaciak J, Wisniowiecka-Kowalnik B, Obersztyn E, Bocian E, Stankiewicz P. Autistic features with speech delay in a girl with an approximately 1.5- Mb deletion in 6q16.1, including GPR63 and FUT9. Clin Genet 2009; 75(2): 199-202. 19 227. Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P et al. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am J Med Genet A 2010; 152A(9): 2346-2354.</p><p>228. Devlin B, Bennett P, Cook EH, Jr., Dawson G, Gonen D, Grigorenko EL et al. No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. Am J Med Genet 2002; 114(6): 667-672.</p><p>229. Devlin B, Bennett P, Dawson G, Figlewicz DA, Grigorenko EL, McMahon W et al. Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet B Neuropsychiatr Genet 2004; 126B(1): 46-50.</p><p>230. Di Bella MA, Cali F, Seidita G, Mirisola M, Ragusa A, Ragalmuto A et al. Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(6): 584-590.</p><p>231. Dimitropoulos A, Schultz RT. Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings. Curr Psychiatry Rep 2007; 9(2): 159-164.</p><p>232. Dissanayake C, Bui Q, Bulhak-Paterson D, Huggins R, Loesch DZ. Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome. J Child Psychol Psychiatry 2009; 50(3): 290-299.</p><p>233. Donnelly SL, Wolpert CM, Menold MM, Bass MP, Gilbert JR, Cuccaro ML et al. Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. Am J Med Genet 2000; 96(3): 312-316.</p><p>234. dos Santos PA, Longo D, Brandalize AP, Schuler-Faccini L. MTHFR C677T is not a risk factor for autism spectrum disorders in South Brazil. Psychiatr Genet 2010; 20(4): 187- 189.</p><p>235. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007; 39(1): 25-27.</p><p>236. Dutta S, Das S, Guhathakurta S, Sen B, Sinha S, Chatterjee A et al. Glutamate receptor 6 gene (GluR6 or GRIK2) polymorphisms in the Indian population: a genetic association study on autism spectrum disorder. Cell Mol Neurobiol 2007; 27(8): 1035-1047.</p><p>237. Dutta S, Guhathakurta S, Sinha S, Chatterjee A, Ahmed S, Ghosh S et al. Reelin gene polymorphisms in the Indian population: a possible paternal 5'UTR-CGG-repeat-allele effect on autism. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(1): 106-112.</p><p>20 238. Dutta S, Sinha S, Ghosh S, Chatterjee A, Ahmed S, Usha R. Genetic analysis of reelin gene (RELN) SNPs: no association with autism spectrum disorder in the Indian population. Neurosci Lett 2008; 441(1): 56-60.</p><p>239. Dykens EM, Sutcliffe JS, Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. Ment Retard Dev Disabil Res Rev 2004; 10(4): 284-291.</p><p>240. Eagleson KL, Gravielle MC, Schlueter McFadyen-Ketchum LJ, Russek SJ, Farb DH, Levitt P. Genetic disruption of the autism spectrum disorder risk gene PLAUR induces GABAA receptor subunit changes. Neuroscience 2010; 168(3): 797-810.</p><p>241. Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T et al. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet 2007; 44(2): 136-143.</p><p>242. Eichler EE, Zimmerman AW. A hot spot of genetic instability in autism. N Engl J Med 2008; 358(7): 737-739.</p><p>243. Ekstrom AB, Hakenas-Plate L, Samuelsson L, Tulinius M, Wentz E. Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 918-926.</p><p>244. Eliez S. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry 2007; 46(4): 433-434; author reply 434-434.</p><p>245. Endo T, Kitamura H, Tamura R, Egawa J, Sugai T, Fukui N et al. 5-HTTLPR polymorphism influences prefrontal neurochemical metabolites in autism spectrum disorder. Psychiatry Res 2010; 183(2): 170-173.</p><p>246. Enstrom AM, Lit L, Onore CE, Gregg JP, Hansen RL, Pessah IN et al. Altered gene expression and function of peripheral blood natural killer cells in children with autism. Brain Behav Immun 2009; 23(1): 124-133.</p><p>247. Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z et al. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. Am J Med Genet A 2010; 152A(4): 1039-1042.</p><p>248. Eskenazi B, Huen K, Marks A, Harley KG, Bradman A, Barr DB et al. PON1 and neurodevelopment in children from the CHAMACOS study exposed to organophosphate pesticides in utero. Environ Health Perspect 2010; 118(12): 1775-1781.</p><p>249. Estecio M, Fett-Conte AC, Varella-Garcia M, Fridman C, Silva AE. Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders. J Autism Dev Disord 2002; 32(1): 35-41.</p><p>21 250. Ezugha H, Goldenthal M, Valencia I, Anderson CE, Legido A, Marks H. 5q14.3 deletion manifesting as mitochondrial disease and autism: case report. J Child Neurol 2010; 25(10): 1232-1235.</p><p>251. Fatemi SH, Snow AV, Stary JM, Araghi-Niknam M, Reutiman TJ, Lee S et al. Reelin signaling is impaired in autism. Biol Psychiatry 2005; 57(7): 777-787.</p><p>252. Fatemi SH, Stary JM, Halt AR, Realmuto GR. Dysregulation of Reelin and Bcl-2 proteins in autistic cerebellum. J Autism Dev Disord 2001; 31(6): 529-535.</p><p>253. Felder B, Radlwimmer B, Benner A, Mincheva A, Todt G, Beyer KS et al. FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am J Med Genet A 2009; 149A(5): 952-959.</p><p>254. Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A et al. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 2006; 409(1): 10-13.</p><p>255. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet 2010; 47(3): 195-203.</p><p>256. Ferrante P, Saresella M, Guerini FR, Marzorati M, Musetti MC, Cazzullo AG. Significant association of HLA A2-DR11 with CD4 naive decrease in autistic children. Biomed Pharmacother 2003; 57(8): 372-374.</p><p>257. Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M et al. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol 2003; 53(6): 801-804.</p><p>258. Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 2005; 35(4): 461-470.</p><p>259. Finelli P, Natacci F, Bonati MT, Gottardi G, Engelen JJ, de Die-Smulders CE et al. FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour. J Med Genet 2004; 41(7): e90.</p><p>260. Flax JF, Hare A, Azaro MA, Vieland VJ, Brzustowicz LM. Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci. J Neurodev Disord 2010; 2(4): 210-223.</p><p>261. Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two </p><p>22 patients with autistic disorder and mental retardation. Am J Med Genet 1996; 61(2): 182- 187.</p><p>262. Floris C, Rassu S, Boccone L, Gasperini D, Cao A, Crisponi L. Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. Eur J Hum Genet 2008; 16(6): 696-704.</p><p>263. Folstein S, Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977; 18(4): 297-321.</p><p>264. Fon EA, Sarrazin J, Meunier C, Alarcia J, Shevell MI, Philippe A et al. Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation. Am J Med Genet 1995; 60(6): 554-557.</p><p>265. Fontenelle LF, Mendlowicz MV, Bezerra de Menezes G, dos Santos Martins RR, Versiani M. Asperger Syndrome, obsessive-compulsive disorder, and major depression in a patient with 45,X/46,XY mosaicism. Psychopathology 2004; 37(3): 105-109.</p><p>266. Francke U. Discovery of the Rett syndrome gene and its function. Turk J Pediatr 2000; 42(4): 271.</p><p>267. Freitag CM, Agelopoulos K, Huy E, Rothermundt M, Krakowitzky P, Meyer J et al. Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. Eur Child Adolesc Psychiatry 2010; 19(1): 67- 74.</p><p>268. Fryns JP, Kleczkowska A. Autism and ring chromosome 18 mosaicism. Clin Genet 1992; 42(1): 55.</p><p>269. Fujita E, Dai H, Tanabe Y, Zhiling Y, Yamagata T, Miyakawa T et al. Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1. Cell Death Dis 2010; 1: e47.</p><p>270. Gadow KD, Devincent CJ, Olvet DM, Pisarevskaya V, Hatchwell E. Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder. Eur J Neurosci 2010; 32(6): 1058-1065.</p><p>271. Gadow KD, DeVincent CJ, Pisarevskaya V, Olvet DM, Xu W, Mendell NR et al. Parent- child DRD4 genotype as a potential biomarker for oppositional, anxiety, and repetitive behaviors in children with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry 2010; 34(7): 1208-1214.</p><p>272. Gadow KD, Roohi J, DeVincent CJ, Hatchwell E. Association of ADHD, tics, and anxiety with dopamine transporter (DAT1) genotype in autism spectrum disorder. J Child Psychol Psychiatry 2008; 49(12): 1331-1338. 23 273. Gadow KD, Roohi J, DeVincent CJ, Kirsch S, Hatchwell E. Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. J Autism Dev Disord 2009; 39(11): 1542- 1551.</p><p>274. Gadow KD, Roohi J, DeVincent CJ, Kirsch S, Hatchwell E. Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (rs301430) and repetitive behaviors and anxiety in children with autism spectrum disorder. J Autism Dev Disord 2010; 40(9): 1139-1145.</p><p>275. Gaita L, Manzi B, Sacco R, Lintas C, Altieri L, Lombardi F et al. Decreased serum arylesterase activity in autism spectrum disorders. Psychiatry Res 2010; 180(2-3): 105- 113.</p><p>276. Galasso C, Lo-Castro A, Lalli C, Nardone AM, Gullotta F, Curatolo P. Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism. J Child Neurol 2008; 23(7): 802-806.</p><p>277. Gallagher L, Becker K, Kearney G, Dunlop A, Stallings R, Green A et al. Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3). J Autism Dev Disord 2003; 33(1): 105-108.</p><p>278. Gallagher L, Hawi Z, Kearney G, Fitzgerald M, Gill M. No association between allelic variants of HOXA1/HOXB1 and autism. Am J Med Genet B Neuropsychiatr Genet 2004; 124B(1): 64-67.</p><p>279. Gans DJ. Additional evidence for genetic component in autism. J Autism Dev Disord 1989; 19(1): 175-176.</p><p>280. Garbett K, Ebert PJ, Mitchell A, Lintas C, Manzi B, Mirnics K et al. Immune transcriptome alterations in the temporal cortex of subjects with autism. Neurobiol Dis 2008; 30(3): 303-311.</p><p>281. Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L et al. NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. Am J Med Genet B Neuropsychiatr Genet 2005; 132B(1): 74-75.</p><p>282. Gauthier J, Joober R, Dube MP, St-Onge J, Bonnel A, Gariepy D et al. Autism spectrum disorders associated with X chromosome markers in French-Canadian males. Mol Psychiatry 2006; 11(2): 206-213.</p><p>283. Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V et al. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. Am J Med Genet A 2003; 118A(2): 172-175.</p><p>24 284. Gauthier J, Spiegelman D, Piton A, Lafreniere RG, Laurent S, St-Onge J et al. Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet 2009; 150B(3): 421-424.</p><p>285. Gharani N, Benayed R, Mancuso V, Brzustowicz LM, Millonig JH. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Mol Psychiatry 2004; 9(5): 474-484.</p><p>286. Ghaziuddin M. Autism in Down's syndrome: a family history study. J Intellect Disabil Res 2000; 44 ( Pt 5): 562-566.</p><p>287. Ghaziuddin M, Burmeister M. Deletion of chromosome 2q37 and autism: a distinct subtype? J Autism Dev Disord 1999; 29(3): 259-263.</p><p>288. Ghaziuddin M, Sheldon S, Tsai LY, Alessi N. Abnormalities of chromosome 18 in a girl with mental retardation and autistic disorder. J Intellect Disabil Res 1993; 37 ( Pt 3): 313-317.</p><p>289. Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet 2010; 86(2): 185-195.</p><p>290. Gillberg C. Identical triplets with infantile autism and the fragile-X syndrome. Br J Psychiatry 1983; 143: 256-260.</p><p>291. Gillberg C, Cederlund M. Asperger syndrome: familial and pre- and perinatal factors. J Autism Dev Disord 2005; 35(2): 159-166.</p><p>292. Gillberg C, Ohlson VA, Wahlstrom J, Steffenburg S, Blix K. Monozygotic female twins with autism and the fragile-X syndrome (AFRAX). J Child Psychol Psychiatry 1988; 29(4): 447-451.</p><p>293. Gillberg C, Persson E, Wahlstrom J. The autism-fragile-X syndrome (AFRAX): a population-based study of ten boys. J Ment Defic Res 1986; 30 ( Pt 1): 27-39.</p><p>294. Gillberg C, Steffenburg S, Wahlstrom J, Gillberg IC, Sjostedt A, Martinsson T et al. Autism associated with marker chromosome. J Am Acad Child Adolesc Psychiatry 1991; 30(3): 489-494.</p><p>295. Gillberg C, Wahlstrom J. Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases. Dev Med Child Neurol 1985; 27(3): 293-304.</p><p>296. Gillberg C, Wahlstrom J, Hagberg B. Infantile autism and Rett's syndrome: common chromosomal denominator. Lancet 1984; 2(8411): 1094-1095. 25 297. Gillberg C, Winnergard I, Wahlstrom J. The sex chromosomes--one key to autism? An XYY case of infantile autism. Appl Res Ment Retard 1984; 5(3): 353-360.</p><p>298. Gilling M, Lauritsen MB, Moller M, Henriksen KF, Vicente A, Oliveira G et al. A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet 2008; 16(3): 312-319.</p><p>299. Giunco CT, de Oliveira AB, Carvalho-Salles AB, Souza DS, Silva AE, da Rocha SS et al. Association between APOE polymorphisms and predisposition for autism. Psychiatr Genet 2009; 19(6): 338.</p><p>300. Giunco CT, Moretti-Ferreira D, Silva AE, Rocha SS, Fett-Conte AC. MOMO syndrome associated with autism: a case report. Genet Mol Res 2008; 7(4): 1223-1225.</p><p>301. Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S et al. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet 2009; 17(1): 37-43.</p><p>302. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459(7246): 569-573.</p><p>303. Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 2001; 105(6): 521-524.</p><p>304. Goin-Kochel RP, Abbacchi A, Constantino JN. Lack of evidence for increased genetic loading for autism among families of affected females: a replication from family history data in two large samples. Autism 2007; 11(3): 279-286.</p><p>305. Goin-Kochel RP, Porter AE, Peters SU, Shinawi M, Sahoo T, Beaudet AL. The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype- phenotype correlations. Autism Res 2009; 2(2): 98-108.</p><p>306. Goizet C, Excoffier E, Taine L, Taupiac E, El Moneim AA, Arveiler B et al. Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH. Am J Med Genet 2000; 96(6): 839-844.</p><p>307. Goldfine PE, McPherson PM, Heath GA, Hardesty VA, Beauregard LJ, Gordon B. Association of fragile X syndrome with autism. Am J Psychiatry 1985; 142(1): 108-110.</p><p>308. Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P et al. Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 830-835.</p><p>26 309. Gong X, Delorme R, Fauchereau F, Durand CM, Chaste P, Betancur C et al. An investigation of ribosomal protein L10 gene in autism spectrum disorders. BMC Med Genet 2009; 10: 7.</p><p>310. Gong X, Jia M, Ruan Y, Shuang M, Liu J, Wu S et al. Association between the FOXP2 gene and autistic disorder in Chinese population. Am J Med Genet B Neuropsychiatr Genet 2004; 127B(1): 113-116.</p><p>311. Goodlin-Jones BL, Tassone F, Gane LW, Hagerman RJ. Autistic spectrum disorder and the fragile X premutation. J Dev Behav Pediatr 2004; 25(6): 392-398.</p><p>312. Goodman AB. A family history study of schizophrenia spectrum disorders suggests new candidate genes in schizophrenia and autism. Psychiatr Q 1994; 65(4): 287-297.</p><p>313. Grady DL, Harxhi A, Smith M, Flodman P, Spence MA, Swanson JM et al. Sequence variants of the DRD4 gene in autism: further evidence that rare DRD4 7R haplotypes are ADHD specific. Am J Med Genet B Neuropsychiatr Genet 2005; 136B(1): 33-35.</p><p>314. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D et al. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol 2000; 15(6): 357-361.</p><p>315. Greenberg DA, Hodge SE, Sowinski J, Nicoll D. Excess of twins among affected sibling pairs with autism: implications for the etiology of autism. Am J Hum Genet 2001; 69(5): 1062-1067.</p><p>316. Gregg JP, Lit L, Baron CA, Hertz-Picciotto I, Walker W, Davis RA et al. Gene expression changes in children with autism. Genomics 2008; 91(1): 22-29.</p><p>317. Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med 2009; 7: 62.</p><p>318. Grigorenko EL, Han SS, Yrigollen CM, Leng L, Mizue Y, Anderson GM et al. Macrophage migration inhibitory factor and autism spectrum disorders. Pediatrics 2008; 122(2): e438-445.</p><p>319. Grimbacher B, Dutra AS, Holland SM, Fischer RE, Pao M, Gallin JI et al. Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med 1999; 1(5): 213-218.</p><p>320. Guerini FR, Bolognesi E, Manca S, Sotgiu S, Zanzottera M, Agliardi C et al. Family- based transmission analysis of HLA genetic markers in Sardinian children with autistic spectrum disorders. Hum Immunol 2009; 70(3): 184-190.</p><p>27 321. Guerini FR, Manca S, Sotgiu S, Tremolada S, Zanzottera M, Agliardi C et al. A family based linkage analysis of HLA and 5-HTTLPR gene polymorphisms in Sardinian children with autism spectrum disorder. Hum Immunol 2006; 67(1-2): 108-117.</p><p>322. Guhathakurta S, Ghosh S, Sinha S, Chatterjee A, Ahmed S, Chowdhury SR et al. Serotonin transporter promoter variants: Analysis in Indian autistic and control population. Brain Res 2006; 1092(1): 28-35.</p><p>323. Guhathakurta S, Singh AS, Sinha S, Chatterjee A, Ahmed S, Ghosh S et al. Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes. Neurochem Int 2009; 55(8): 754-759.</p><p>324. Guhathakurta S, Sinha S, Ghosh S, Chatterjee A, Ahmed S, Gangopadhyay PK et al. Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal. Brain Res 2008; 1240: 12-21.</p><p>325. Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009; 66(9): 947-956.</p><p>326. Gurling HM, Bolton PF, Vincent J, Melmer G, Rutter M. Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes. Hum Hered 1997; 47(5): 254-262.</p><p>327. Gutierrez RC, Hung J, Zhang Y, Kertesz AC, Espina FJ, Colicos MA. Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3. Neuroscience 2009; 162(1): 208-221.</p><p>328. Hagerman RJ, Jackson AW, 3rd, Levitas A, Rimland B, Braden M. An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet 1986; 23(1-2): 359-374.</p><p>329. Hagerman RJ, Ono MY, Hagerman PJ. Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry 2005; 18(5): 490-496.</p><p>330. Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E et al. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A 2010; 152A(1): 196-202.</p><p>331. Hallmayer J, Hebert JM, Spiker D, Lotspeich L, McMahon WM, Petersen PB et al. Autism and the X chromosome. Multipoint sib-pair analysis. Arch Gen Psychiatry 1996; 53(11): 985-989. 28 332. Hallmayer J, Pintado E, Lotspeich L, Spiker D, McMahon W, Petersen PB et al. Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families. Am J Hum Genet 1994; 55(5): 951-959.</p><p>333. Hallmayer J, Spiker D, Lotspeich L, McMahon WM, Petersen PB, Nicholas P et al. Male-to-male transmission in extended pedigrees with multiple cases of autism. Am J Med Genet 1996; 67(1): 13-18.</p><p>334. Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 2010; 87(5): 671-678.</p><p>335. Hamilton SP, Woo JM, Carlson EJ, Ghanem N, Ekker M, Rubenstein JL. Analysis of four DLX homeobox genes in autistic probands. BMC Genet 2005; 6: 52.</p><p>336. Hampton T. Scientists scan genome for autism clues. JAMA 2007; 297(12): 1303-1304.</p><p>337. Handley MT, Lian LY, Haynes LP, Burgoyne RD. Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder. PLoS One 2010; 5(5): e10534.</p><p>338. Hansen A, Brask BH, Nielsen J, Rasmussen K, Sillesen I. A case report of an autistic girl with an extra bisatellited marker chromosome. J Autism Child Schizophr 1977; 7(3): 263- 267.</p><p>339. Happe F. Autism: cognitive deficit or cognitive style? Trends Cogn Sci 1999; 3(6): 216- 222.</p><p>340. Harris SW, Hessl D, Goodlin-Jones B, Ferranti J, Bacalman S, Barbato I et al. Autism profiles of males with fragile X syndrome. Am J Ment Retard 2008; 113(6): 427-438.</p><p>341. Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ et al. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet 2005; 67(4): 341-351.</p><p>342. Hashimoto O, Shimizu Y, Kawasaki Y. Brief report: low frequency of the fragile X syndrome among Japanese autistic subjects. J Autism Dev Disord 1993; 23(1): 201-209.</p><p>343. Havlovicova M, Novotna D, Kocarek E, Novotna K, Bendova S, Petrak B et al. A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. Am J Med Genet A 2007; 143(1): 76-81.</p><p>344. Havlovicova M, Propper L, Novotna D, Musova Z, Hrdlicka M, Sedlacek Z. [Genetic study of 20 patients with autism disorders]. Cas Lek Cesk 2002; 141(12): 381-387. 29 345. Hebebrand J, Martin M, Korner J, Roitzheim B, de Braganca K, Werner W et al. Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome. Am J Med Genet 1994; 54(3): 268-270.</p><p>346. Henningsson S, Jonsson L, Ljunggren E, Westberg L, Gillberg C, Rastam M et al. Possible association between the androgen receptor gene and autism spectrum disorder. Psychoneuroendocrinology 2009; 34(5): 752-761.</p><p>347. Herault J, Martineau J, Petit E, Perrot A, Sauvage D, Barthelemy C et al. Genetic markers in autism: association study on short arm of chromosome 11. J Autism Dev Disord 1994; 24(2): 233-236.</p><p>348. Herault J, Perrot A, Barthelemy C, Buchler M, Cherpi C, Leboyer M et al. Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism. Psychiatry Res 1993; 46(3): 261-267.</p><p>349. Herault J, Petit E, Buchler M, Martineau J, Cherpi C, Perrot A et al. Lack of association between three genetic markers of brain growth factors and infantile autism. Biol Psychiatry 1994; 35(4): 281-283.</p><p>350. Herault J, Petit E, Martineau J, Perrot A, Lenoir P, Cherpi C et al. Autism and genetics: clinical approach and association study with two markers of HRAS gene. Am J Med Genet 1995; 60(4): 276-281.</p><p>351. Herbert MR, Kenet T. Brain abnormalities in language disorders and in autism. Pediatr Clin North Am 2007; 54(3): 563-583, vii.</p><p>352. Herguner S, Mukaddes NM. Autism and Williams syndrome: a case report. World J Biol Psychiatry 2006; 7(3): 186-188.</p><p>353. Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A. Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. Am J Med Genet A 2007; 143(6): 589-593.</p><p>354. Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL. Genetic testing in autism: how much is enough? Genet Med 2007; 9(5): 268-274.</p><p>355. Hessl D, Dyer-Friedman J, Glaser B, Wisbeck J, Barajas RG, Taylor A et al. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome. Pediatrics 2001; 108(5): E88.</p><p>356. Hettinger JA, Liu X, Holden JJ. The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders. J Autism Dev Disord 2008; 38(1): 14-19.</p><p>30 357. Hettinger JA, Liu X, Schwartz CE, Michaelis RC, Holden JJ. A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(5): 628-636.</p><p>358. Hilton CL, Fitzgerald RT, Jackson KM, Maxim RA, Bosworth CC, Shattuck PT et al. Brief report: Under-representation of African americans in autism genetic research: a rationale for inclusion of subjects representing diverse family structures. J Autism Dev Disord 2010; 40(5): 633-639.</p><p>359. Ho HH, Kalousek DK. Fragile X syndrome in autistic boys. J Autism Dev Disord 1989; 19(2): 343-347.</p><p>360. Hoekstra PJ, Troost PW, Lahuis BE, Mulder H, Mulder EJ, Franke B et al. Risperidone- induced weight gain in referred children with autism spectrum disorders is associated with a common polymorphism in the 5-hydroxytryptamine 2C receptor gene. J Child Adolesc Psychopharmacol 2010; 20(6): 473-477.</p><p>361. Hoekstra RA, Bartels M, Hudziak JJ, Van Beijsterveldt TC, Boomsma DI. Genetic and environmental covariation between autistic traits and behavioral problems. Twin Res Hum Genet 2007; 10(6): 853-860.</p><p>362. Hoekstra RA, Bartels M, Verweij CJ, Boomsma DI. Heritability of autistic traits in the general population. Arch Pediatr Adolesc Med 2007; 161(4): 372-377.</p><p>363. Hoekstra RA, Happe F, Baron-Cohen S, Ronald A. Association between extreme autistic traits and intellectual disability: insights from a general population twin study. Br J Psychiatry 2009; 195(6): 531-536.</p><p>364. Hoekstra RA, Happe F, Baron-Cohen S, Ronald A. Limited genetic covariance between autistic traits and intelligence: findings from a longitudinal twin study. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(5): 994-1007.</p><p>365. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet 2007; 16(6): 691-703.</p><p>366. Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 2010; 38(2): 181-191.</p><p>367. Holden JJ, Wing M, Chalifoux M, Julien-Inalsingh C, Schutz C, Robinson P et al. Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders. Am J Med Genet 1996; 64(2): 399-403.</p><p>368. Holroyd S, Reiss AL, Bryan RN. Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. Biol Psychiatry 1991; 29(3): 287-294. 31 369. Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I et al. Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet 2010; 18(9): 1013-1019.</p><p>370. Hoshino Y, Yashima Y, Tachibana R, Kaneko M, Watanabe M, Kumashiro H. Sex chromosome abnormalities in autistic children--long Y chromosome. Fukushima J Med Sci 1979; 26(1-2): 31-42.</p><p>371. Hotopf M, Bolton P. A case of autism associated with partial tetrasomy 15. J Autism Dev Disord 1995; 25(1): 41-49.</p><p>372. Howlin P. Autistic features in Cohen syndrome: a preliminary report. Dev Med Child Neurol 2001; 43(10): 692-696.</p><p>373. Hranilovic D, Blazevic S, Babic M, Smurinic M, Bujas-Petkovic Z, Jernej B. 5-HT2A receptor gene polymorphisms in Croatian subjects with autistic disorder. Psychiatry Res 2010; 178(3): 556-558.</p><p>374. Hranilovic D, Novak R, Babic M, Novokmet M, Bujas-Petkovic Z, Jernej B. Hyperserotonemia in autism: the potential role of 5HT-related gene variants. Coll Antropol 2008; 32 Suppl 1: 75-80.</p><p>375. Hu VW, Frank BC, Heine S, Lee NH, Quackenbush J. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics 2006; 7: 118.</p><p>376. Hu VW, Nguyen A, Kim KS, Steinberg ME, Sarachana T, Scully MA et al. Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS One 2009; 4(6): e5775.</p><p>377. Hu VW, Sarachana T, Kim KS, Nguyen A, Kulkarni S, Steinberg ME et al. Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res 2009; 2(2): 78-97.</p><p>378. Hu VW, Steinberg ME. Novel clustering of items from the Autism Diagnostic Interview- Revised to define phenotypes within autism spectrum disorders. Autism Res 2009; 2(2): 67-77.</p><p>379. Huang CH, Santangelo SL. Autism and serotonin transporter gene polymorphisms: a systematic review and meta-analysis. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 903-913.</p><p>32 380. Huang HS, Cheung I, Akbarian S. RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder. Autism Res 2010; 3(4): 153-161.</p><p>381. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A 2010; 152A(8): 2112-2114.</p><p>382. Hultman CM, Sparen P. Autism--prenatal insults or an epiphenomenon of a strongly genetic disorder? Lancet 2004; 364(9433): 485-487.</p><p>383. Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS et al. Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet B Neuropsychiatr Genet 2003; 117B(1): 90-96.</p><p>384. Hutcheson HB, Olson LM, Bradford Y, Folstein SE, Santangelo SL, Sutcliffe JS et al. Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes. BMC Med Genet 2004; 5: 12.</p><p>385. Idol JR, Addington AM, Long RT, Rapoport JL, Green ED. Sequencing and analyzing the t(1;7) reciprocal translocation breakpoints associated with a case of childhood-onset schizophrenia/autistic disorder. J Autism Dev Disord 2008; 38(4): 668-677.</p><p>386. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology 2000; 62(6): 393-405.</p><p>387. Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF et al. Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. Hum Mol Genet 1997; 6(8): 1241-1250.</p><p>388. Isomura M, Nakamura Y. [Positional cloning of genes responsible for epilepsy and autism using a patient with chromosomal translocation]. Tanpakushitsu Kakusan Koso 1997; 42(17 Suppl): 2786-2790.</p><p>389. Iurov I, Vorsanova SG, Saprina EA, Iurov Iu B. [Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements]. Genetika 2010; 46(10): 1348-1351.</p><p>390. Jackman C, Horn ND, Molleston JP, Sokol DK. Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatr Neurol 2009; 40(4): 310-313.</p><p>391. Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F et al. Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder. Autism Res 2009; 2(4): 232-236. 33 392. Jacob S, Brune CW, Carter CS, Leventhal BL, Lord C, Cook EH, Jr. Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neurosci Lett 2007; 417(1): 6-9.</p><p>393. Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 2006; 43(11): 843-849.</p><p>394. Jamain S, Betancur C, Quach H, Philippe A, Fellous M, Giros B et al. Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry 2002; 7(3): 302-310.</p><p>395. Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003; 34(1): 27-29.</p><p>396. Jamain S, Quach H, Quintana-Murci L, Betancur C, Philippe A, Gillberg C et al. Y chromosome haplogroups in autistic subjects. Mol Psychiatry 2002; 7(2): 217-219.</p><p>397. James SJ, Melnyk S, Jernigan S, Pavliv O, Trusty T, Lehman S et al. A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(6): 1209- 1220.</p><p>398. Jayakar P, Chudley AE, Ray M, Evans JA, Perlov J, Wand R. Fra(2) (q13) and inv(9) (p11q12) in autism: causal relationship? Am J Med Genet 1986; 23(1-2): 381-392.</p><p>399. Jellinger KA. Rett Syndrome -- an update. J Neural Transm 2003; 110(6): 681-701.</p><p>400. Jentarra GM, Olfers SL, Rice SG, Srivastava N, Homanics GE, Blue M et al. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. BMC Neurosci 2010; 11: 19.</p><p>401. Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol 2007; 11(5): 310-317.</p><p>402. Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD et al. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A 2004; 131(1): 1-10.</p><p>403. Joel V, Hans H, Dirk D. Autism and X-linked hypophosphatemia: A possible association? Indian J Hum Genet 2010; 16(1): 36-38. 34 404. Johnson WG, Buyske S, Mars AE, Sreenath M, Stenroos ES, Williams TA et al. HLA- DR4 as a risk allele for autism acting in mothers of probands possibly during pregnancy. Arch Pediatr Adolesc Med 2009; 163(6): 542-546.</p><p>405. Jones MB, Szatmari P. Stoppage rules and genetic studies of autism. J Autism Dev Disord 1988; 18(1): 31-40.</p><p>406. Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C et al. Complex segregation analysis of autism. Am J Hum Genet 1991; 49(5): 932-938.</p><p>407. Jovanovic-Privrodski JD, Kavecan, II, Obrenovic MR, Buonadonna LA, Bukvic NM. Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15. Pediatr Neurol 2009; 41(1): 65-67.</p><p>408. Judd LL, Mandell AJ. Chromosome studies in early infantile autism. Arch Gen Psychiatry 1968; 18(4): 450-457.</p><p>409. Junaid MA, Kowal D, Barua M, Pullarkat PS, Sklower Brooks S, Pullarkat RK. Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor. Am J Med Genet A 2004; 131(1): 11-17.</p><p>410. Kakinuma H, Ozaki M, Sato H, Takahashi H. Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16). Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 973-975.</p><p>411. Kakinuma H, Sato H. Copy-number variations associated with autism spectrum disorder. Pharmacogenomics 2008; 9(8): 1143-1154.</p><p>412. Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P. 2-methylbutyryl- CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. J Med Case Reports 2007; 1: 98.</p><p>413. Kantojarvi K, Onkamo P, Vanhala R, Alen R, Hedman M, Sajantila A et al. Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatr Genet 2010; 20(3): 102-108.</p><p>414. Kates WR, Burnette CP, Eliez S, Strunge LA, Kaplan D, Landa R et al. Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism. Am J Psychiatry 2004; 161(3): 539-546.</p><p>415. Kates WR, Ikuta I, Burnette CP. Gyrification patterns in monozygotic twin pairs varying in discordance for autism. Autism Res 2009; 2(5): 267-278.</p><p>35 416. Kato C, Tochigi M, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H et al. Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. Psychiatr Genet 2008; 18(3): 133-136.</p><p>417. Kato C, Tochigi M, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K et al. Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(7): 1008-1012.</p><p>418. Kawashima H, Mori T, Kashiwagi Y, Takekuma K, Hoshika A, Wakefield A. Detection and sequencing of measles virus from peripheral mononuclear cells from patients with inflammatory bowel disease and autism. Dig Dis Sci 2000; 45(4): 723-729.</p><p>419. Kelemenova S, Schmidtova E, Ficek A, Celec P, Kubranska A, Ostatnikova D. Polymorphisms of candidate genes in Slovak autistic patients. Psychiatr Genet 2010; 20(4): 137-139.</p><p>420. Keller K, Williams C, Wharton P, Paulk M, Bent-Williams A, Gray B et al. Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders. Am J Med Genet A 2003; 117A(2): 105-111.</p><p>421. Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR et al. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet 2008; 45(8): 519-524.</p><p>422. Kent L, Gallagher L, Elliott HR, Mowbray C, Chinnery PF. An investigation of mitochondrial haplogroups in autism. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 987-989.</p><p>423. Kent L, Lambert C, Pyle A, Elliott H, Wheelwright S, Baron-Cohen S et al. The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome. J Pediatr 2006; 149(2): 280-281.</p><p>424. Kerbeshian J, Burd L, Randall T, Martsolf J, Jalal S. Autism, profound mental retardation and atypical bipolar disorder in a 33-year-old female with a deletion of 15q12. J Ment Defic Res 1990; 34 ( Pt 2): 205-210.</p><p>425. Kerbeshian J, Severud R, Burd L, Larson L. Peek-a-boo fragile site at 16d associated with Tourette syndrome, bipolar disorder, autistic disorder, and mental retardation. Am J Med Genet 2000; 96(1): 69-73.</p><p>426. Kerr AM, Belichenko P, Woodcock T, Woodcock M. Mind and brain in Rett disorder. Brain Dev 2001; 23 Suppl 1: S44-49.</p><p>36 427. Kerr AM, Ravine D. Review article: breaking new ground with Rett syndrome. J Intellect Disabil Res 2003; 47(Pt 8): 580-587.</p><p>428. Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V et al. Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome. Hum Genet 2010; 127(1): 118.</p><p>429. Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S et al. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J Invest Dermatol 1998; 111(5): 791-796.</p><p>430. Kielinen M, Rantala H, Timonen E, Linna SL, Moilanen I. Associated medical disorders and disabilities in children with autistic disorder: a population-based study. Autism 2004; 8(1): 49-60.</p><p>431. Kilpinen H, Ylisaukko-Oja T, Hennah W, Palo OM, Varilo T, Vanhala R et al. Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry 2008; 13(2): 187-196.</p><p>432. Kilpinen H, Ylisaukko-oja T, Rehnstrom K, Gaal E, Turunen JA, Kempas E et al. Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. Hum Mol Genet 2009; 18(15): 2912-2921.</p><p>433. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 2008; 82(1): 199- 207.</p><p>434. Kim HW, Cho SC, Kim JW, Cho IH, Kim SA, Park M et al. Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios. Am J Med Genet B Neuropsychiatr Genet 2009; 150B(2): 300-306.</p><p>435. Kim SA, Kim JH, Park M, Cho IH, Yoo HJ. Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. Neuropsychobiology 2006; 54(3): 160- 165.</p><p>436. Kim SA, Kim JH, Park M, Cho IH, Yoo HJ. Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios. Neurosci Res 2007; 58(3): 332-335.</p><p>437. Kim SJ, Brune CW, Kistner EO, Christian SL, Courchesne EH, Cox NJ et al. Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(7): 1116-1125.</p><p>438. Kim SJ, Cox N, Courchesne R, Lord C, Corsello C, Akshoomoff N et al. Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder. Mol Psychiatry 2002; 7(3): 278-288. 37 439. Kim SJ, Herzing LB, Veenstra-VanderWeele J, Lord C, Courchesne R, Leventhal BL et al. Mutation screening and transmission disequilibrium study of ATP10C in autism. Am J Med Genet 2002; 114(2): 137-143.</p><p>440. Kim SJ, Young LJ, Gonen D, Veenstra-VanderWeele J, Courchesne R, Courchesne E et al. Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism. Mol Psychiatry 2002; 7(5): 503-507.</p><p>441. Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I et al. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol Psychiatry 2006; 11(12): 1073-1084.</p><p>442. Klauck SM, Munstermann E, Bieber-Martig B, Ruhl D, Lisch S, Schmotzer G et al. Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. Hum Genet 1997; 100(2): 224-229.</p><p>443. Klauck SM, Poustka F, Benner A, Lesch KP, Poustka A. Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet 1997; 6(13): 2233-2238.</p><p>444. Koishi S, Yamamoto K, Matsumoto H, Enseki Y, Oya A, Asakura A et al. Serotonin transporter gene promoter polymorphism and autism: a family-based genetic association study in Japanese population. Brain Dev 2006; 28(4): 257-260.</p><p>445. Koishi S, Yamazaki K, Yamamoto K, Enseki Y, Nakamura Y, Oya A et al. Notch4 gene polymorphisms are not associated with autism in Japanese population. Am J Med Genet B Neuropsychiatr Genet 2004; 125B(1): 61-62.</p><p>446. Konstantareas MM, Homatidis S. Chromosomal abnormalities in a series of children with autistic disorder. J Autism Dev Disord 1999; 29(4): 275-285.</p><p>447. Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E et al. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH. Clin Genet 2006; 69(2): 124-134.</p><p>448. Kotsopoulos S. Infantile autism in dizygotic twins. A case report. J Autism Child Schizophr 1976; 6(2): 133-138.</p><p>449. Krebs MO, Betancur C, Leroy S, Bourdel MC, Gillberg C, Leboyer M. Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism. Mol Psychiatry 2002; 7(7): 801-804.</p><p>450. Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW et al. De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. Am J Med Genet A 2004; 129A(1): 98-100. 38 451. Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA. Infantile autism and 47,XYY karyotype. Arq Neuropsiquiatr 2009; 67(3A): 717-718.</p><p>452. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17(4): 628-638.</p><p>453. Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA et al. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One 2009; 4(2): e4582.</p><p>454. Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M et al. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet 2010; 47(2): 81-90.</p><p>455. Kwasnicka-Crawford DA, Roberts W, Scherer SW. Characterization of an autism- associated segmental maternal heterodisomy of the chromosome 15q11-13 region. J Autism Dev Disord 2007; 37(4): 694-702.</p><p>456. Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R. MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. J Med Genet 2002; 39(8): 586-588.</p><p>457. Laje G, Morse R, Richter W, Ball J, Pao M, Smith AC. Autism spectrum features in Smith-Magenis syndrome. Am J Med Genet C Semin Med Genet 2010; 154C(4): 456- 462.</p><p>458. Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY et al. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet 2000; 37(12): E41.</p><p>459. Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F et al. Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. J Med Genet 2005; 42(2): 132-137.</p><p>460. Lamb JA, Moore J, Bailey A, Monaco AP. Autism: recent molecular genetic advances. Hum Mol Genet 2000; 9(6): 861-868.</p><p>461. Landa RJ, Holman KC, Garrett-Mayer E. Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. Arch Gen Psychiatry 2007; 64(7): 853-864.</p><p>462. LaSalle JM, Hogart A, Thatcher KN. Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism. Int Rev Neurobiol 2005; 71: 131-165.</p><p>39 463. Lassig JP, Vachirasomtoon K, Hartzell K, Leventhal M, Courchesne E, Courchesne R et al. Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder. Am J Med Genet 1999; 88(5): 472-475.</p><p>464. Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP et al. X- linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004; 74(3): 552-557.</p><p>465. Laumonnier F, Roger S, Guerin P, Molinari F, M'Rad R, Cahard D et al. Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry 2006; 163(9): 1622-1629.</p><p>466. Lauritsen M, Mors O, Mortensen PB, Ewald H. Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. J Child Psychol Psychiatry 1999; 40(3): 335-345.</p><p>467. Lauritsen MB, Borglum AD, Betancur C, Philippe A, Kruse TA, Leboyer M et al. Investigation of two variants in the DOPA decarboxylase gene in patients with autism. Am J Med Genet 2002; 114(4): 466-470.</p><p>468. Lauritsen MB, Nyegaard M, Betancur C, Colineaux C, Josiassen TL, Kruse TA et al. Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet 2003; 121B(1): 100-104.</p><p>469. Lauritsen MB, Pedersen CB, Mortensen PB. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 2005; 46(9): 963-971.</p><p>470. Lawler CP, Croen LA, Grether JK, Van de Water J. Identifying environmental contributions to autism: provocative clues and false leads. Ment Retard Dev Disabil Res Rev 2004; 10(4): 292-302.</p><p>471. Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet 2008; 16(5): 614-618.</p><p>472. Le Couteur A, Bailey A, Goode S, Pickles A, Robertson S, Gottesman I et al. A broader phenotype of autism: the clinical spectrum in twins. J Child Psychol Psychiatry 1996; 37(7): 785-801.</p><p>473. Leboyer M, Bouvard MP, Recasens C, Philippe A, Guilloud-Bataille M, Bondoux D et al. Difference between plasma N- and C-terminally directed beta-endorphin immunoreactivity in infantile autism. Am J Psychiatry 1994; 151(12): 1797-1801.</p><p>40 474. Lee LC, Zachary AA, Leffell MS, Newschaffer CJ, Matteson KJ, Tyler JD et al. HLA- DR4 in families with autism. Pediatr Neurol 2006; 35(5): 303-307.</p><p>475. Lepagnol-Bestel AM, Maussion G, Boda B, Cardona A, Iwayama Y, Delezoide AL et al. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol Psychiatry 2008; 13(4): 385-397.</p><p>476. Lerer E, Levi S, Israel S, Yaari M, Nemanov L, Mankuta D et al. Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study. Autism Res 2010; 3(6): 293-302.</p><p>477. Lerer E, Levi S, Salomon S, Darvasi A, Yirmiya N, Ebstein RP. Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. Mol Psychiatry 2008; 13(10): 980-988.</p><p>478. Levitas A, Hagerman RJ, Braden M, Rimland B, McBogg P, Matus I. Autism and the fragile X syndrome. J Dev Behav Pediatr 1983; 4(3): 151-158.</p><p>479. Levy SE, Giarelli E, Lee LC, Schieve LA, Kirby RS, Cunniff C et al. Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States. J Dev Behav Pediatr 2010; 31(4): 267-275.</p><p>480. Levy SE, Mandell DS, Schultz RT. Autism. Lancet 2009; 374(9701): 1627-1638.</p><p>481. Li H, Li Y, Shao J, Li R, Qin Y, Xie C et al. The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(2): 194-200.</p><p>482. Li H, Yamagata T, Mori M, Momoi MY. Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. J Hum Genet 2002; 47(5): 262-265.</p><p>483. Li H, Yamagata T, Mori M, Momoi MY. Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients. Brain Dev 2005; 27(3): 207- 210.</p><p>484. Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev 2005; 27(5): 321-325.</p><p>485. Li J, Nguyen L, Gleason C, Lotspeich L, Spiker D, Risch N et al. Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. Am J Med Genet B Neuropsychiatr Genet 2004; 126B(1): 51-57.</p><p>41 486. Li J, Tabor HK, Nguyen L, Gleason C, Lotspeich LJ, Spiker D et al. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am J Med Genet 2002; 114(1): 24-30.</p><p>487. Li SY, Chen YC, Lai TJ, Hsu CY, Wang YC. Molecular and cytogenetic analyses of autism in Taiwan. Hum Genet 1993; 92(5): 441-445.</p><p>488. Li X, Hu Z, He Y, Xiong Z, Long Z, Peng Y et al. Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population. Psychiatr Genet 2010; 20(3): 113-117.</p><p>489. Liang JS, Shimojima K, Ohno K, Sugiura C, Une Y, Yamamoto T. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion. J Med Genet 2009; 46(9): 645-647.</p><p>490. Lichtenstein P, Carlstrom E, Rastam M, Gillberg C, Anckarsater H. The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatry 2010; 167(11): 1357-1363.</p><p>491. Lim SM, Kim HJ, Nam M, Chung JH, Park YH. Association study of DISC1 in Korean population with autism spectrum disorders. Psychiatr Genet 2009; 19(3): 160.</p><p>492. Limprasert P, Zhong N, Dobkin C, Brown WT. Polymorphism of FXR1 showing lack of association with autism. Am J Med Genet 1997; 74(4): 453-454.</p><p>493. Lintas C, Altieri L, Lombardi F, Sacco R, Persico AM. Association of autism with polyomavirus infection in postmortem brains. J Neurovirol 2010; 16(2): 141-149.</p><p>494. Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C et al. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol Psychiatry 2009; 14(7): 705-718.</p><p>495. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D et al. A genomewide screen for autism susceptibility loci. Am J Hum Genet 2001; 69(2): 327-340.</p><p>496. Liu QJ, Ma F, Li D, Wang XW, Tian WY, Chen Y et al. Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005; 22(3): 254-257.</p><p>497. Liu X, Kawamura Y, Shimada T, Otowa T, Koishi S, Sugiyama T et al. Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. J Hum Genet 2010; 55(3): 137-141.</p><p>42 498. Liu X, Novosedlik N, Wang A, Hudson ML, Cohen IL, Chudley AE et al. The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. Eur J Hum Genet 2009; 17(2): 228-235.</p><p>499. Liu XQ, Paterson AD, Szatmari P. Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry 2008; 64(7): 561-570.</p><p>500. Loat CS, Curran S, Lewis CM, Duvall J, Geschwind D, Bolton P et al. Methyl-CpG- binding protein 2 polymorphisms and vulnerability to autism. Genes Brain Behav 2008; 7(7): 754-760.</p><p>501. Loat CS, Haworth CM, Plomin R, Craig IW. A model incorporating potential skewed X- inactivation in MZ girls suggests that X-linked QTLs exist for several social behaviours including autism spectrum disorder. Ann Hum Genet 2008; 72(Pt 6): 742-751.</p><p>502. Lobo-Menendez F, Sossey-Alaoui K, Bell JM, Copeland-Yates SA, Plank SM, Sanford SO et al. Absence of MeCP2 mutations in patients from the South Carolina autism project. Am J Med Genet B Neuropsychiatr Genet 2003; 117B(1): 97-101.</p><p>503. Lo-Castro A, Galasso C, Cerminara C, El-Malhany N, Benedetti S, Nardone AM et al. Association of syndromic mental retardation and autism with 22q11.2 duplication. Neuropediatrics 2009; 40(3): 137-140.</p><p>504. Lo-Castro A, Giana G, Fichera M, Castiglia L, Grillo L, Musumeci SA et al. Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH. Eur J Med Genet 2009; 52(1): 67-70.</p><p>505. Loirat C, Bellanne-Chantelot C, Husson I, Deschenes G, Guigonis V, Chabane N. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant 2010; 25(10): 3430-3433.</p><p>506. Lombroso PJ. Genetics of childhood disorders: XIV. A gene for Rett syndrome: news flash. J Am Acad Child Adolesc Psychiatry 2000; 39(5): 671-674.</p><p>507. Longo D, Schuler-Faccini L, Brandalize AP, dos Santos Riesgo R, Bau CH. Influence of the 5-HTTLPR polymorphism and environmental risk factors in a Brazilian sample of patients with autism spectrum disorders. Brain Res 2009; 1267: 9-17.</p><p>508. Lopreiato JO, Wulfsberg EA. A complex chromosome rearrangement in a boy with autism. J Dev Behav Pediatr 1992; 13(4): 281-283.</p><p>509. Losh M, Esserman D, Piven J. Rapid Automatized Naming as an Index of Genetic Liability to Autism. J Neurodev Disord 2010; 2(2): 109-116.</p><p>510. Losh M, Piven J. Social-cognition and the broad autism phenotype: identifying genetically meaningful phenotypes. J Child Psychol Psychiatry 2007; 48(1): 105-112. 43 511. Lotan M, Manor-Binyamini I, Elefant C, Wine J, Saraf E, Yoshei Y. The Israeli Rett Syndrome Center. Evaluation and transdisciplinary play-based assessment. ScientificWorldJournal 2006; 6: 1302-1313.</p><p>512. Lotan M, Merrick J. Rett syndrome management with Snoezelen or controlled multi- sensory stimulation. A review. Int J Adolesc Med Health 2004; 16(1): 5-12.</p><p>513. Lu AT, Cantor RM. Allowing for sex differences increases power in a GWAS of multiplex Autism families. Mol Psychiatry 2010.</p><p>514. Lucarelli P, Palminiello S, Saccucci P, Bottini N, De Luca D, Elia M et al. Association study of autistic disorder and chromosome 16p. Am J Med Genet A 2003; 119A(2): 242- 246.</p><p>515. Luder AS, Mamet R, Farbstein I, Schoenfeld N. Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism. Cell Mol Biol (Noisy-le-grand) 2009; 55(1): 19-22.</p><p>516. Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K. Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genet Couns 2004; 15(3): 293-301.</p><p>517. Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 2009; 73(Pt 3): 263-273.</p><p>518. Ma DQ, Cuccaro ML, Jaworski JM, Haynes CS, Stephan DA, Parod J et al. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Mol Psychiatry 2007; 12(4): 376-384.</p><p>519. Ma DQ, Jaworski J, Menold MM, Donnelly S, Abramson RK, Wright HH et al. Ordered- subset analysis of savant skills in autism for 15q11-q13. Am J Med Genet B Neuropsychiatr Genet 2005; 135B(1): 38-41.</p><p>520. Ma DQ, Rabionet R, Konidari I, Jaworski J, Cukier HN, Wright HH et al. Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(2): 477-483.</p><p>521. Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H et al. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am J Hum Genet 2005; 77(3): 377-388.</p><p>522. MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ. Ring chromosome 22 and autism: report and review. Am J Med Genet 2000; 90(5): 382-385.</p><p>44 523. Maddox LO, Menold MM, Bass MP, Rogala AR, Pericak-Vance MA, Vance JM et al. Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig. Genomics 1999; 62(3): 325-331.</p><p>524. Madokoro H, Ohdo S, Sonoda T, Ohba K, Tanaka H, Hayakawa K. Infantile autism and the fragile X syndrome in Japanese children. Acta Paediatr Jpn 1989; 31(2): 163-165.</p><p>525. Maekawa M, Iwayama Y, Arai R, Nakamura K, Ohnishi T, Toyota T et al. Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects. J Hum Genet 2010; 55(2): 127- 130.</p><p>526. Maekawa M, Iwayama Y, Nakamura K, Sato M, Toyota T, Ohnishi T et al. A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. Neurosci Lett 2009; 462(3): 267-271.</p><p>527. Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A et al. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Am J Med Genet 1999; 88(5): 492-496.</p><p>528. Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I et al. High- density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Mol Psychiatry 2010; 15(9): 954-968.</p><p>529. Malmgren H, Gustavson KH, Wahlstrom J, Arpi-Henriksson I, Bensch J, Pettersson U et al. Infantile autism--fragile X: molecular findings support genetic heterogeneity. Am J Med Genet 1992; 44(6): 830-833.</p><p>530. Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L et al. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 2004; 114(2): 451-457.</p><p>531. Mariner R, Jackson AW, 3rd, Levitas A, Hagerman RJ, Braden M, McBogg PM et al. Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord 1986; 16(4): 425-440.</p><p>532. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82(2): 477-488.</p><p>533. Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K et al. Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(7): 869-876.</p><p>45 534. Martin ER, Menold MM, Wolpert CM, Bass MP, Donnelly SL, Ravan SA et al. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet 2000; 96(1): 43-48.</p><p>535. Martin I, Gauthier J, D'Amelio M, Vedrine S, Vourc'h P, Rouleau GA et al. Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband. Neurosci Res 2007; 59(4): 426-430.</p><p>536. Martin-Ruiz CM, Lee M, Perry RH, Baumann M, Court JA, Perry EK. Molecular analysis of nicotinic receptor expression in autism. Brain Res Mol Brain Res 2004; 123(1-2): 81-90.</p><p>537. Martinsson T, Johannesson T, Vujic M, Sjostedt A, Steffenburg S, Gillberg C et al. Maternal origin of inv dup(15) chromosomes in infantile autism. Eur Child Adolesc Psychiatry 1996; 5(4): 185-192.</p><p>538. Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O et al. Association between autism and variants in the wingless-type MMTV integration site family member 2 ( WNT2) gene. Int J Neuropsychopharmacol 2010; 13(4): 443-449.</p><p>539. Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O et al. Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism: a case-control study. Brain Dev 2007; 29(8): 510-513.</p><p>540. Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O et al. Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropsychopharmacol 2009; 12(1): 1-10.</p><p>541. Marui T, Hashimoto O, Nanba E, Kato C, Tochigi M, Umekage T et al. Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. Am J Med Genet B Neuropsychiatr Genet 2004; 131B(1): 43-47.</p><p>542. Marui T, Hashimoto O, Nanba E, Kato C, Tochigi M, Umekage T et al. Gastrin-releasing peptide receptor (GRPR) locus in Japanese subjects with autism. Brain Dev 2004; 26(1): 5-7.</p><p>543. Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O et al. No association between the neuronal pentraxin II gene polymorphism and autism. Prog Neuropsychopharmacol Biol Psychiatry 2007; 31(4): 940-943.</p><p>544. Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O et al. No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. Neurosci Res 2005; 53(1): 91-94.</p><p>46 545. Mas C, Bourgeois F, Bulfone A, Levacher B, Mugnier C, Simonneau M. Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16. Genomics 2000; 65(1): 70-74.</p><p>546. Matsuishi T, Shiotsuki Y, Niikawa N, Katafuchi Y, Otaki E, Ando H et al. Fragile X syndrome in Japanese patients with infantile autism. Pediatr Neurol 1987; 3(5): 284-287.</p><p>547. Maussion G, Carayol J, Lepagnol-Bestel AM, Tores F, Loe-Mie Y, Milbreta U et al. Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism. Hum Mol Genet 2008; 17(16): 2541-2551.</p><p>548. Mazefsky CA, Goin-Kochel RP, Riley BP, Maes HH. Genetic and Environmental Influences on Symptom Domains in Twins and Siblings with Autism. Res Autism Spectr Disord 2008; 2(2): 320-331.</p><p>549. Mazzocco MM, Kates WR, Baumgardner TL, Freund LS, Reiss AL. Autistic behaviors among girls with fragile X syndrome. J Autism Dev Disord 1997; 27(4): 415-435.</p><p>550. Mbarek O, Marouillat S, Martineau J, Barthelemy C, Muh JP, Andres C. Association study of the NF1 gene and autistic disorder. Am J Med Genet 1999; 88(6): 729-732.</p><p>551. McBride KL, Varga EA, Pastore MT, Prior TW, Manickam K, Atkin JF et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res 2010; 3(3): 137-141.</p><p>552. McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K et al. Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 2005; 6: 1.</p><p>553. McCauley JL, Olson LM, Delahanty R, Amin T, Nurmi EL, Organ EL et al. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet B Neuropsychiatr Genet 2004; 131B(1): 51-59.</p><p>554. McCauley JL, Olson LM, Dowd M, Amin T, Steele A, Blakely RD et al. Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. Am J Med Genet B Neuropsychiatr Genet 2004; 127B(1): 104-112.</p><p>555. McCoy PA, Shao Y, Wolpert CM, Donnelly SL, Ashley-Koch A, Abel HL et al. No association between the WNT2 gene and autistic disorder. Am J Med Genet 2002; 114(1): 106-109.</p><p>556. McCracken JT, Aman MG, McDougle CJ, Tierney E, Shiraga S, Whelan F et al. Possible influence of variant of the P-glycoprotein gene (MDR1/ABCB1) on clinical response to guanfacine in children with pervasive developmental disorders and hyperactivity. J Child Adolesc Psychopharmacol 2010; 20(1): 1-5.</p><p>47 557. McGillivray BC, Herbst DS, Dill FJ, Sandercock HJ, Tischler B. Infantile autism: an occasional manifestation of fragile (X) mental retardation. Am J Med Genet 1986; 23(1- 2): 353-358.</p><p>558. McInnes LA, Gonzalez PJ, Manghi ER, Esquivel M, Monge S, Delgado MF et al. A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases. BMC Psychiatry 2005; 5: 15.</p><p>559. McInnes LA, Nakamine A, Pilorge M, Brandt T, Jimenez Gonzalez P, Fallas M et al. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Mol Autism 2010; 1(1): 5.</p><p>560. McInnes LA, Ouchanov L, Nakamine A, Jimenez P, Esquivel M, Fallas M et al. The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica. BMC Psychiatry 2007; 7: 21.</p><p>561. McQuaid PE. Infantile autism in twins. Br J Psychiatry 1975; 127: 530-534.</p><p>562. Melin M, Carlsson B, Anckarsater H, Rastam M, Betancur C, Isaksson A et al. Constitutional downregulation of SEMA5A expression in autism. Neuropsychobiology 2006; 54(1): 64-69.</p><p>563. Melke J, Goubran Botros H, Chaste P, Betancur C, Nygren G, Anckarsater H et al. Abnormal melatonin synthesis in autism spectrum disorders. Mol Psychiatry 2008; 13(1): 90-98.</p><p>564. Menold MM, Shao Y, Wolpert CM, Donnelly SL, Raiford KL, Martin ER et al. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. J Neurogenet 2001; 15(3-4): 245-259.</p><p>565. Merritt JL, 2nd, Jalal SM, Barbaresi WJ, Babovic-Vuksanovic D. 14q32.3 deletion syndrome with autism. Am J Med Genet A 2005; 133A(1): 99-100.</p><p>566. Meryash DL, Szymanski LS, Gerald PS. Infantile autism associated with the fragile-X syndrome. J Autism Dev Disord 1982; 12(3): 295-301.</p><p>567. Meyer GA, Blum NJ, Hitchcock W, Fortina P. Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder. J Pediatr 1998; 133(3): 363-365.</p><p>568. Meyer-Lindenberg A, Kolachana B, Gold B, Olsh A, Nicodemus KK, Mattay V et al. Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans. Mol Psychiatry 2009; 14(10): 968-975.</p><p>48 569. Michaelis RC. 'A patient with autistic disorder and a 20/22 chromosomal translocation'. Dev Med Child Neurol 1998; 40(11): 785.</p><p>570. Michaelis RC, Copeland-Yates SA, Sossey-Alaoui K, Skinner C, Friez MJ, Longshore JW et al. The HOPA gene dodecamer duplication is not a significant etiological factor in autism. J Autism Dev Disord 2000; 30(4): 355-358.</p><p>571. Michaelis RC, Skinner SA, Deason R, Skinner C, Moore CL, Phelan MC. Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism? Am J Med Genet 1997; 71(3): 298-304.</p><p>572. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009; 46(4): 242-248.</p><p>573. Miller FA, Hayeems RZ, Bytautas JP. What is a meaningful result? Disclosing the results of genomic research in autism to research participants. Eur J Hum Genet 2010; 18(8): 867-871.</p><p>574. Minderaa RB, Stroink H, Blom W, Gunning WB, van Hemel JO. [Children with autism and related contact disorders: medical aspects]. Ned Tijdschr Geneeskd 1989; 133(5): 225-229.</p><p>575. Ming X, Johnson WG, Stenroos ES, Mars A, Lambert GH, Buyske S. Genetic variant of glutathione peroxidase 1 in autism. Brain Dev 2010; 32(2): 105-109.</p><p>576. Mitchell SR, Reiss AL, Tatusko DH, Ikuta I, Kazmerski DB, Botti JA et al. Neuroanatomic alterations and social and communication deficits in monozygotic twins discordant for autism disorder. Am J Psychiatry 2009; 166(8): 917-925.</p><p>577. Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007; 81(6): 1289- 1297.</p><p>578. Mohammad NS, Jain JM, Chintakindi KP, Singh RP, Naik U, Akella RR. Aberrations in folate metabolic pathway and altered susceptibility to autism. Psychiatr Genet 2009; 19(4): 171-176.</p><p>579. Molloy CA, Keddache M, Martin LJ. Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. Mol Psychiatry 2005; 10(8): 741-746.</p><p>580. Moog U, Engelen JJ, Weber BW, Van Gelderen M, Steyaert J, Baas F et al. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Genet Couns 2004; 15(1): 73-80.</p><p>49 581. Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010; 87(5): 618-630.</p><p>582. Morey-Canellas J, Sivagamasundari U, Barton H. A case of autism in a child with Apert's syndrome. Eur Child Adolesc Psychiatry 2003; 12(2): 100-102.</p><p>583. Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008; 321(5886): 218-223.</p><p>584. Morrow JD, Whitman BY, Accardo PJ. Autistic disorder in Sotos syndrome: a case report. Eur J Pediatr 1990; 149(8): 567-569.</p><p>585. Mostafa GA, Shehab AA. The link of C4B null allele to autism and to a family history of autoimmunity in Egyptian autistic children. J Neuroimmunol 2010; 223(1-2): 115-119.</p><p>586. Mouridsen SE, Rich B, Isager T. A comparative study of genetic and neurobiological findings in disintegrative psychosis and infantile autism. Psychiatry Clin Neurosci 2000; 54(4): 441-446.</p><p>587. Mukaddes NM, Herguner S. Autistic disorder and 22q11.2 duplication. World J Biol Psychiatry 2007; 8(2): 127-130.</p><p>588. Mulder EJ, Anderson GM, Kema IP, Brugman AM, Ketelaars CE, de Bildt A et al. Serotonin transporter intron 2 polymorphism associated with rigid-compulsive behaviors in Dutch individuals with pervasive developmental disorder. Am J Med Genet B Neuropsychiatr Genet 2005; 133B(1): 93-96.</p><p>589. Munesue T, Yokoyama S, Nakamura K, Anitha A, Yamada K, Hayashi K et al. Two genetic variants of CD38 in subjects with autism spectrum disorder and controls. Neurosci Res 2010; 67(2): 181-191.</p><p>590. Muscarella LA, Guarnieri V, Sacco R, Curatolo P, Manzi B, Alessandrelli R et al. Candidate gene study of HOXB1 in autism spectrum disorder. Mol Autism 2010; 1(1): 9.</p><p>591. Muscarella LA, Guarnieri V, Sacco R, Militerni R, Bravaccio C, Trillo S et al. HOXA1 gene variants influence head growth rates in humans. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(3): 388-390.</p><p>592. Nabi R, Serajee FJ, Chugani DC, Zhong H, Huq AH. Association of tryptophan 2,3 dioxygenase gene polymorphism with autism. Am J Med Genet B Neuropsychiatr Genet 2004; 125B(1): 63-68.</p><p>593. Nabi R, Zhong H, Serajee FJ, Huq AH. No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism. Am J Med Genet B Neuropsychiatr Genet 2003; 119B(1): 98-101. 50 594. Nagai K, Miyake K, Kubota T. A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth. Brain Res Dev Brain Res 2005; 157(1): 103-106.</p><p>595. Nagarajan RP, Hogart AR, Gwye Y, Martin MR, LaSalle JM. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics 2006; 1(4): e1-11.</p><p>596. Nagarajan RP, Patzel KA, Martin M, Yasui DH, Swanberg SE, Hertz-Picciotto I et al. MECP2 promoter methylation and X chromosome inactivation in autism. Autism Res 2008; 1(3): 169-178.</p><p>597. Naidu SB. Rett syndrome. Indian J Pediatr 1997; 64(5): 651-659.</p><p>598. Nair-Miranda K, Murch A, Petterson B, Hill W, Nikolova-Hill A, Bradley L et al. An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders. Am J Med Genet B Neuropsychiatr Genet 2004; 125B(1): 99- 104.</p><p>599. Nakamine A, Ouchanov L, Jimenez P, Manghi ER, Esquivel M, Monge S et al. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A 2008; 146A(5): 636-643.</p><p>600. Nakamura K, Anitha A, Yamada K, Tsujii M, Iwayama Y, Hattori E et al. Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism. Int J Neuropsychopharmacol 2008; 11(8): 1073-1084.</p><p>601. Nakashima N, Yamagata T, Mori M, Kuwajima M, Suwa K, Momoi MY. Expression analysis and mutation detection of DLX5 and DLX6 in autism. Brain Dev 2010; 32(2): 98-104.</p><p>602. Nasr A, Roy M. Association of a balanced chromosomal translocation (4; 12)(q21.3; q15), affective disorder and autism. J Intellect Disabil Res 2000; 44 ( Pt 2): 170-174.</p><p>603. Nelson EC. No evidence of partial trisomy 16p in an autistic calendar savant with Tourette syndrome. Am J Med Genet 1997; 74(4): 450.</p><p>604. Neves-Pereira M, Muller B, Massie D, Williams JH, O'Brien PC, Hughes A et al. Deregulation of EIF4E: a novel mechanism for autism. J Med Genet 2009; 46(11): 759- 765.</p><p>605. Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai CS, Baird G et al. FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet 2002; 70(5): 1318-1327.</p><p>51 606. Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S, Lamb JA et al. Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. Am J Med Genet A 2009; 149A(4): 588-597.</p><p>607. Newmeyer A, deGrauw T, Clark J, Chuck G, Salomons G. Screening of male patients with autism spectrum disorder for creatine transporter deficiency. Neuropediatrics 2007; 38(6): 310-312.</p><p>608. Ng SS, Chow BK, Wong VC. The human secretin gene in children with autistic spectrum disorder: screening for polymorphisms and mutations. J Child Neurol 2005; 20(8): 701- 704.</p><p>609. Nguyen A, Rauch TA, Pfeifer GP, Hu VW. Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J 2010; 24(8): 3036-3051.</p><p>610. Nicholas B, Rudrasingham V, Nash S, Kirov G, Owen MJ, Wimpory DC. Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis. Mol Psychiatry 2007; 12(6): 581-592.</p><p>611. Nicolson R, Bhalerao S, Sloman L. 47,XYY karyotypes and pervasive developmental disorders. Can J Psychiatry 1998; 43(6): 619-622.</p><p>612. Nijmeijer JS, Arias-Vasquez A, Rommelse NN, Altink ME, Anney RJ, Asherson P et al. Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approach. J Am Acad Child Adolesc Psychiatry 2010; 49(7): 675-685.</p><p>613. Niklasson L, Gillberg C. The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Res Dev Disabil 2010; 31(1): 185-194.</p><p>614. Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C. Neuropsychiatric disorders in the 22q11 deletion syndrome. Genet Med 2001; 3(1): 79-84.</p><p>615. Nishimura K, Nakamura K, Anitha A, Yamada K, Tsujii M, Iwayama Y et al. Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism. Biochem Biophys Res Commun 2007; 356(1): 200-206.</p><p>616. Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet 2007; 16(14): 1682-1698.</p><p>52 617. Nishiyama T, Notohara M, Sumi S, Takami S, Kishino H. Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families. J Hum Genet 2009; 54(12): 721-726.</p><p>618. Nishiyama T, Taniai H, Miyachi T, Ozaki K, Tomita M, Sumi S. Genetic correlation between autistic traits and IQ in a population-based sample of twins with autism spectrum disorders (ASDs). J Hum Genet 2009; 54(1): 56-61.</p><p>619. Noor A, Gianakopoulos PJ, Fernandez B, Marshall CR, Szatmari P, Roberts W et al. Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. Psychiatr Genet 2009; 19(3): 154-155.</p><p>620. Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2010; 2(49): 49ra68.</p><p>621. Noterdaeme MA, Hutzelmeyer-Nickels A. [Comorbidity in autism spectrum disorders - II. Genetic syndromes and neurological problems]. Z Kinder Jugendpsychiatr Psychother 2010; 38(4): 267-272.</p><p>622. Nurmi EL, Amin T, Olson LM, Jacobs MM, McCauley JL, Lam AY et al. Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism. Mol Psychiatry 2003; 8(6): 624-634, 570.</p><p>623. Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB et al. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics 2001; 77(1-2): 105-113.</p><p>624. Nurmi EL, Dowd M, Tadevosyan-Leyfer O, Haines JL, Folstein SE, Sutcliffe JS. Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13. J Am Acad Child Adolesc Psychiatry 2003; 42(7): 856- 863.</p><p>625. Nyden A, Carlsson M, Carlsson A, Gillberg C. Interhemispheric transfer in high- functioning children and adolescents with autism spectrum disorders: a controlled pilot study. Dev Med Child Neurol 2004; 46(7): 448-454.</p><p>626. Odell D, Maciulis A, Cutler A, Warren L, McMahon WM, Coon H et al. Confirmation of the association of the C4B null allelle in autism. Hum Immunol 2005; 66(2): 140-145.</p><p>627. O'Donnell L, Soileau B, Heard P, Carter E, Sebold C, Gelfond J et al. Genetic determinants of autism in individuals with deletions of 18q. Hum Genet 2010; 128(2): 155-164.</p><p>53 628. Ogilvie CM, Moore J, Daker M, Palferman S, Docherty Z. Chromosome 22q11 deletions are not found in autistic patients identified using strict diagnostic criteria. IMGSAC. International Molecular Genetics Study of Autism Consortium. Am J Med Genet 2000; 96(1): 15-17.</p><p>629. Oliveira G, Matoso E, Vicente A, Ribeiro P, Marques C, Ataide A et al. Partial tetrasomy of chromosome 3q and mosaicism in a child with autism. J Autism Dev Disord 2003; 33(2): 177-185.</p><p>630. Omar AO, Ahmad AE, El Bashir H, Al Jaber MJ. Trisomy 13 in a 7-year-old girl with cerebellar tumor, eye abnormalities, and autistic features. Am J Med Genet A 2009; 149A(5): 1056-1057.</p><p>631. Orabona GM, Griesi-Oliveira K, Vadasz E, Bulcao VL, Takahashi VN, Moreira ES et al. HTR1B and HTR2C in autism spectrum disorders in Brazilian families. Brain Res 2009; 1250: 14-19.</p><p>632. Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V. Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. Clin Genet 2009; 75(2): 195-198.</p><p>633. Orstavik KH, Stromme P, Ek J, Torvik A, Skjeldal OH. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome? J Med Genet 1997; 34(10): 849-851.</p><p>634. Ouldim K, Natiq A, Jonveaux P, Sefiani A. Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder. J Biomed Biotechnol 2007; 2007(3): 61538.</p><p>635. Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA et al. A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation. J Autism Dev Disord 2009; 39(2): 322-329.</p><p>636. Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L et al. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin Genet 2009; 76(4): 348-356.</p><p>637. Pagnamenta AT, Bacchelli E, de Jonge MV, Mirza G, Scerri TS, Minopoli F et al. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry 2010; 68(4): 320-328.</p><p>638. Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bolte S, Schmotzer G et al. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 2009; 17(5): 687-692.</p><p>639. Palermo MT, Pasqualetti P, Barbati G, Intelligente F, Rossini PM. Recognition of schematic facial displays of emotion in parents of children with autism. Autism 2006; 10(4): 353-364.</p><p>54 640. Palmen SJ, van Engeland H, Hof PR, Schmitz C. Neuropathological findings in autism. Brain 2004; 127(Pt 12): 2572-2583.</p><p>641. Palmieri L, Papaleo V, Porcelli V, Scarcia P, Gaita L, Sacco R et al. Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Mol Psychiatry 2010; 15(1): 38-52.</p><p>642. Pampanos A, Volaki K, Kanavakis E, Papandreou O, Youroukos S, Thomaidis L et al. A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. Genet Test Mol Biomarkers 2009; 13(5): 611-615.</p><p>643. Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O et al. Mitochondrial myopathy associated with a novel mutation in mtDNA. Neuromuscul Disord 2007; 17(8): 651-654.</p><p>644. Papanikolaou K, Paliokosta E, Gyftodimou J, Kolaitis G, Vgenopoulou S, Sarri C et al. A case of partial trisomy of chromosome 8p associated with autism. J Autism Dev Disord 2006; 36(5): 705-709.</p><p>645. Pasca SP, Dronca E, Kaucsar T, Craciun EC, Endreffy E, Ferencz BK et al. One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders. J Cell Mol Med 2009; 13(10): 4229-4238.</p><p>646. Pasca SP, Dronca E, Nemes B, Kaucsar T, Endreffy E, Iftene F et al. Paraoxonase 1 activities and polymorphisms in autism spectrum disorders. J Cell Mol Med 2010; 14(3): 600-607.</p><p>647. Payton JB, Steele MW, Wenger SL, Minshew NJ. The fragile X marker and autism in perspective. J Am Acad Child Adolesc Psychiatry 1989; 28(3): 417-421.</p><p>648. Persico AM, D'Agruma L, Maiorano N, Totaro A, Militerni R, Bravaccio C et al. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 2001; 6(2): 150-159.</p><p>649. Persico AM, D'Agruma L, Zelante L, Militerni R, Bravaccio C, Schneider C et al. Enhanced APOE2 transmission rates in families with autistic probands. Psychiatr Genet 2004; 14(2): 73-82.</p><p>650. Persico AM, Militerni R, Bravaccio C, Schneider C, Melmed R, Conciatori M et al. Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. Am J Med Genet 2000; 96(1): 123-127.</p><p>651. Persico AM, Militerni R, Bravaccio C, Schneider C, Melmed R, Trillo S et al. No association between the 4g/5G polymorphism of the plasminogen activator inhibitor-1 gene promoter and autistic disorder. Psychiatr Genet 2001; 11(2): 99-103. 55 652. Persico AM, Militerni R, Bravaccio C, Schneider C, Melmed R, Trillo S et al. Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. Am J Med Genet 2000; 96(6): 784-790.</p><p>653. Persico AM, Pascucci T, Puglisi-Allegra S, Militerni R, Bravaccio C, Schneider C et al. Serotonin transporter gene promoter variants do not explain the hyperserotoninemia in autistic children. Mol Psychiatry 2002; 7(7): 795-800.</p><p>654. Persson C, Niklasson L, Oskarsdottir S, Johansson S, Jonsson R, Soderpalm E. Language skills in 5-8-year-old children with 22q11 deletion syndrome. Int J Lang Commun Disord 2006; 41(3): 313-333.</p><p>655. Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F et al. Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. Clin Genet 2003; 64(6): 497-501.</p><p>656. Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S et al. Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics 2007; 277(1): 71-81.</p><p>657. Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet 2004; 66(6): 530-536.</p><p>658. Petersen MB, Vejerslev LO, Beck B. Trisomy 14 mosaicism in a 2 year old girl. J Med Genet 1986; 23(1): 86-88.</p><p>659. Peterson E, Schmidt GL, Tregellas JR, Winterrowd E, Kopelioff L, Hepburn S et al. A voxel-based morphometry study of gray matter in parents of children with autism. Neuroreport 2006; 17(12): 1289-1292.</p><p>660. Petit E, Herault J, Martineau J, Perrot A, Barthelemy C, Hameury L et al. Association study with two markers of a human homeogene in infantile autism. J Med Genet 1995; 32(4): 269-274.</p><p>661. Petit E, Herault J, Raynaud M, Cherpi C, Perrot A, Barthelemy C et al. X chromosome and infantile autism. Biol Psychiatry 1996; 40(6): 457-464.</p><p>662. Philippe A, Guilloud-Bataille M, Martinez M, Gillberg C, Rastam M, Sponheim E et al. Analysis of ten candidate genes in autism by association and linkage. Am J Med Genet 2002; 114(2): 125-128.</p><p>663. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E et al. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet 1999; 8(5): 805-812.</p><p>56 664. Philippi A, Roschmann E, Tores F, Lindenbaum P, Benajou A, Germain-Leclerc L et al. Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism. Mol Psychiatry 2005; 10(10): 950-960.</p><p>665. Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E et al. Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. BMC Med Genet 2007; 8: 74.</p><p>666. Piccione M, Antona V, Antona R, Gambino G, Pierluigi M, Malacarne M et al. Array- CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features. Am J Med Genet A 2010; 152A(2): 486-489.</p><p>667. Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann 2009; 38(1): 26-29.</p><p>668. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH et al. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 1995; 57(3): 717-726.</p><p>669. Pilowsky T, Yirmiya N, Doppelt O, Gross-Tsur V, Shalev RS. Social and emotional adjustment of siblings of children with autism. J Child Psychol Psychiatry 2004; 45(4): 855-865.</p><p>670. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466(7304): 368-372.</p><p>671. Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet 2008; 17(24): 3965-3974.</p><p>672. Piven J, Palmer P. Cognitive deficits in parents from multiple-incidence autism families. J Child Psychol Psychiatry 1997; 38(8): 1011-1021.</p><p>673. Plank SM, Copeland-Yates SA, Sossey-Alaoui K, Bell JM, Schroer RJ, Skinner C et al. Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism. Am J Med Genet 2001; 105(5): 404-405.</p><p>674. Pons R, Andreu AL, Checcarelli N, Vila MR, Engelstad K, Sue CM et al. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr 2004; 144(1): 81-85.</p><p>675. Poo-Arguelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A et al. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 2006; 29(1): 220-223.</p><p>57 676. Poon PM, Chen QL, Lai KY, Wong CK, Pang CP. CGG repeat interruptions in the FMR1 gene in patients with infantile autism. Clin Chem Lab Med 1998; 36(8): 649-653.</p><p>677. Poot M, Beyer V, Schwaab I, Damatova N, Van't Slot R, Prothero J et al. Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 2010; 11(1): 81-89.</p><p>678. Prasad HC, Steiner JA, Sutcliffe JS, Blakely RD. Enhanced activity of human serotonin transporter variants associated with autism. Philos Trans R Soc Lond B Biol Sci 2009; 364(1514): 163-173.</p><p>679. Pueschel SM, Herman R, Groden G. Brief report: screening children with autism for fragile-X syndrome and phenylketonuria. J Autism Dev Disord 1985; 15(3): 335-338.</p><p>680. Qiao Y, Harvard C, Riendeau N, Fawcett C, Liu X, Holden JJ et al. Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability. Cytogenet Genome Res 2008; 123(1-4): 79-87.</p><p>681. Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ et al. Autism- associated familial microdeletion of Xp11.22. Clin Genet 2008; 74(2): 134-144.</p><p>682. Qiao Y, Riendeau N, Koochek M, Liu X, Harvard C, Hildebrand MJ et al. Phenomic determinants of genomic variation in autism spectrum disorders. J Med Genet 2009; 46(10): 680-688.</p><p>683. Qin J, Jia M, Wang L, Lu T, Ruan Y, Liu J et al. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population. BMC Med Genet 2009; 10: 61.</p><p>684. Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. Am J Med Genet A 2010; 152A(10): 2459-2467.</p><p>685. Rabionet R, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL et al. Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. Neurosci Lett 2004; 372(3): 209-214.</p><p>686. Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS et al. Lack of association between autism and SLC25A12. Am J Psychiatry 2006; 163(5): 929- 931.</p><p>687. Raiford KL, Shao Y, Allen IC, Martin ER, Menold MM, Wright HH et al. No association between the APOE gene and autism. Am J Med Genet B Neuropsychiatr Genet 2004; 125B(1): 57-60.</p><p>688. Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB et al. A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes 58 encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC Med Genet 2004; 5: 10.</p><p>689. Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. Dev Med Child Neurol 2008; 50(12): 953-955.</p><p>690. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 2009; 66(6): 771-782.</p><p>691. Ramoz N, Cai G, Reichert JG, Corwin TE, Kryzak LA, Smith CJ et al. Family-based association study of TPH1 and TPH2 polymorphisms in autism. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(8): 861-867.</p><p>692. Ramoz N, Cai G, Reichert JG, Silverman JM, Buxbaum JD. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(7): 1152-1158.</p><p>693. Ramoz N, Reichert JG, Corwin TE, Smith CJ, Silverman JM, Hollander E et al. Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism. Biol Psychiatry 2006; 60(2): 186-191.</p><p>694. Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL et al. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry 2004; 161(4): 662-669.</p><p>695. Rasmussen K, Nielsen J, Sillesen I, Brask BH, Saldana-Garcia P. A bisatellited marker chromosome in a mentally retarded girl with infantile autism. Hereditas 1976; 82(1): 37- 42.</p><p>696. Raznahan A, Pugliese L, Barker GJ, Daly E, Powell J, Bolton PF et al. Serotonin transporter genotype and neuroanatomy in autism spectrum disorders. Psychiatr Genet 2009; 19(3): 147-150.</p><p>697. Raznahan A, Toro R, Proitsi P, Powell J, Paus T, P FB et al. A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder. J Neurodev Disord 2009; 1(3): 215-223.</p><p>698. Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 2005; 6: 3.</p><p>699. Redfern RE, Daou MC, Li L, Munson M, Gericke A, Ross AH. A mutant form of PTEN linked to autism. Protein Sci 2010; 19(10): 1948-1956.</p><p>59 700. Rehnstrom K, Ylisaukko-oja T, Nieminen-von Wendt T, Sarenius S, Kallman T, Kempas E et al. Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome. J Med Genet 2006; 43(2): e6.</p><p>701. Rehnstrom K, Ylisaukko-oja T, Nummela I, Ellonen P, Kempas E, Vanhala R et al. Allelic variants in HTR3C show association with autism. Am J Med Genet B Neuropsychiatr Genet 2009; 150B(5): 741-746.</p><p>702. Rehnstrom K, Ylisaukko-Oja T, Vanhala R, von Wendt L, Peltonen L, Hovatta I. No association between common variants in glyoxalase 1 and autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(1): 124-127.</p><p>703. Reiersen AM, Constantino JN, Grimmer M, Martin NG, Todd RD. Evidence for shared genetic influences on self-reported ADHD and autistic symptoms in young adult Australian twins. Twin Res Hum Genet 2008; 11(6): 579-585.</p><p>704. Richler E, Reichert JG, Buxbaum JD, McInnes LA. Autism and ultraconserved non- coding sequence on chromosome 7q. Psychiatr Genet 2006; 16(1): 19-23.</p><p>705. Rineer S, Finucane B, Simon EW. Autistic symptoms among children and young adults with isodicentric chromosome 15. Am J Med Genet 1998; 81(5): 428-433.</p><p>706. Rippon G, Brock J, Brown C, Boucher J. Disordered connectivity in the autistic brain: challenges for the "new psychophysiology". Int J Psychophysiol 2007; 63(2): 164-172.</p><p>707. Ritvo ER, Freeman BJ, Mason-Brothers A, Mo A, Ritvo AM. Concordance for the syndrome of autism in 40 pairs of afflicted twins. Am J Psychiatry 1985; 142(1): 74-77.</p><p>708. Ritvo ER, Spence MA, Freeman BJ, Mason-Brothers A, Mo A, Marazita ML. Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism. Am J Psychiatry 1985; 142(2): 187-192.</p><p>709. Robinson PD, Schutz CK, Macciardi F, White BN, Holden JJ. Genetically determined low maternal serum dopamine beta-hydroxylase levels and the etiology of autism spectrum disorders. Am J Med Genet 2001; 100(1): 30-36.</p><p>710. Rogers SJ, Wehner DE, Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 2001; 22(6): 409-417.</p><p>711. Rogers T, Kalaydjieva L, Hallmayer J, Petersen PB, Nicholas P, Pingree C et al. Exclusion of linkage to the HLA region in ninety multiplex sibships with autism. J Autism Dev Disord 1999; 29(3): 195-201.</p><p>60 712. Romano V, Cali F, Mirisola M, Gambino G, R DA, Di Rosa P et al. Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients. Mol Psychiatry 2003; 8(8): 716-717.</p><p>713. Romano V, Cali F, Seidita G, Mirisola M, D'Anna RP, Gambino G et al. Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families. Psychiatr Genet 2005; 15(2): 149-150.</p><p>714. Ronald A, Butcher LM, Docherty S, Davis OS, Schalkwyk LC, Craig IW et al. A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples. Behav Genet 2010; 40(1): 31-45.</p><p>715. Ronald A, Happe F, Bolton P, Butcher LM, Price TS, Wheelwright S et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 2006; 45(6): 691-699.</p><p>716. Ronald A, Happe F, Plomin R. The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Dev Sci 2005; 8(5): 444-458.</p><p>717. Ronald A, Happe F, Plomin R. A twin study investigating the genetic and environmental aetiologies of parent, teacher and child ratings of autistic-like traits and their overlap. Eur Child Adolesc Psychiatry 2008; 17(8): 473-483.</p><p>718. Ronald A, Happe F, Price TS, Baron-Cohen S, Plomin R. Phenotypic and genetic overlap between autistic traits at the extremes of the general population. J Am Acad Child Adolesc Psychiatry 2006; 45(10): 1206-1214.</p><p>719. Ronald A, Larsson H, Anckarsater H, Lichtenstein P. A twin study of autism symptoms in Sweden. Mol Psychiatry 2010.</p><p>720. Ronald A, Simonoff E, Kuntsi J, Asherson P, Plomin R. Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample. J Child Psychol Psychiatry 2008; 49(5): 535-542.</p><p>721. Roohi J, DeVincent CJ, Hatchwell E, Gadow KD. Association of a monoamine oxidase-a gene promoter polymorphism with ADHD and anxiety in boys with autism spectrum disorder. J Autism Dev Disord 2009; 39(1): 67-74.</p><p>722. Roohi J, Montagna C, Tegay DH, Palmer LE, DeVincent C, Pomeroy JC et al. Disruption of contactin 4 in three subjects with autism spectrum disorder. J Med Genet 2009; 46(3): 176-182.</p><p>723. Roohi J, Tegay DH, Pomeroy JC, Burkett S, Stone G, Stanyon R et al. A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 </p><p>61 identifies a potential candidate gene for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(4): 411-417.</p><p>724. Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R et al. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med 2010; 12(11): 694-702.</p><p>725. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A et al. A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 2008; 51(6): 631-638.</p><p>726. Russell G, Steer C, Golding J. Social and demographic factors that influence the diagnosis of autistic spectrum disorders. Soc Psychiatry Psychiatr Epidemiol 2010.</p><p>727. Russo AJ, Neville L, Wroge C. Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype. Biomark Insights 2009; 4: 45-56.</p><p>728. Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E et al. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 2009; 10(3): 241-250.</p><p>729. Rutter M, Kreppner J, Croft C, Murin M, Colvert E, Beckett C et al. Early adolescent outcomes of institutionally deprived and non-deprived adoptees. III. Quasi-autism. J Child Psychol Psychiatry 2007; 48(12): 1200-1207.</p><p>730. Sabaratnam M, Murthy NV, Wijeratne A, Buckingham A, Payne S. Autistic-like behaviour profile and psychiatric morbidity in Fragile X Syndrome: a prospective ten- year follow-up study. Eur Child Adolesc Psychiatry 2003; 12(4): 172-177.</p><p>731. Sabaratnam M, Turk J, Vroegop P. Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13. Eur Child Adolesc Psychiatry 2000; 9(4): 307-311.</p><p>732. Sabry MA, Farag TI. Chromosome 15q11-13 region and the autistic disorder. J Intellect Disabil Res 1998; 42 ( Pt 3): 259.</p><p>733. Sacco R, Papaleo V, Hager J, Rousseau F, Moessner R, Militerni R et al. Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1. BMC Med Genet 2007; 8: 11.</p><p>734. Sakurai T, Ramoz N, Reichert JG, Corwin TE, Kryzak L, Smith CJ et al. Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive- compulsive or self-stimulatory behaviors. Psychiatr Genet 2006; 16(6): 251-257.</p><p>62 735. Sakurai T, Reichert J, Hoffman EJ, Cai G, Jones HB, Faham M et al. A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders. Autism Res 2008; 1(4): 251-257.</p><p>736. Saliba JR, Griffiths M. Brief report: autism of the Asperger type associated with an autosomal fragile site. J Autism Dev Disord 1990; 20(4): 569-575.</p><p>737. Salmon B, Hallmayer J, Rogers T, Kalaydjieva L, Petersen PB, Nicholas P et al. Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism. Am J Med Genet 1999; 88(5): 551-556.</p><p>738. Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R et al. Variants in several genomic regions associated with asperger disorder. Autism Res 2010; 3(6): 303-310.</p><p>739. Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 2005; 14(4): 483-492.</p><p>740. Sankar DV. Chromosome breakage in infantile autism. Dev Med Child Neurol 1970; 12(5): 572-575.</p><p>741. Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T et al. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. Am J Med Genet A 2003; 120A(4): 533-536.</p><p>742. Sbacchi S, Acquadro F, Calo I, Cali F, Romano V. Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding. Curr Genomics 2010; 11(2): 136-145.</p><p>743. Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med 2006; 8(9): 549-556.</p><p>744. Schaefer GB, Starr L, Pickering D, Skar G, Dehaai K, Sanger WG. Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. J Child Neurol 2010; 25(12): 1498-1503.</p><p>745. Schaevitz LR, Moriuchi JM, Nag N, Mellot TJ, Berger-Sweeney J. Cognitive and social functions and growth factors in a mouse model of Rett syndrome. Physiol Behav 2010; 100(3): 255-263.</p><p>746. Schellenberg GD, Dawson G, Sung YJ, Estes A, Munson J, Rosenthal E et al. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 2006; 11(11): 1049-1060, 1979.</p><p>63 747. Schinzel A. Autistic disorder and additional inv dup(15)(pter----q13) chromosome. Am J Med Genet 1990; 35(3): 447-448.</p><p>748. Schnetz-Boutaud NC, Anderson BM, Brown KD, Wright HH, Abramson RK, Cuccaro ML et al. Examination of tetrahydrobiopterin pathway genes in autism. Genes Brain Behav 2009; 8(8): 753-757.</p><p>749. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M et al. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998; 76(4): 327-336.</p><p>750. Schutz CK, Polley D, Robinson PD, Chalifoux M, Macciardi F, White BN et al. Autism and the X chromosome: no linkage to microsatellite loci detected using the affected sibling pair method. Am J Med Genet 2002; 109(1): 36-41.</p><p>751. Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D et al. Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med 2010; 2(56): 56ra80.</p><p>752. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T et al. Strong association of de novo copy number mutations with autism. Science 2007; 316(5823): 445-449.</p><p>753. Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M, Gallagher L. Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31. Am J Psychiatry 2005; 162(11): 2182-2184.</p><p>754. Seidita G, Mirisola M, D'Anna RP, Gallo A, Jensen RT, Mantey SA et al. Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 807-813.</p><p>755. Sen B, Singh AS, Sinha S, Chatterjee A, Ahmed S, Ghosh S et al. Family-based studies indicate association of Engrailed 2 gene with autism in an Indian population. Genes Brain Behav 2010; 9(2): 248-255.</p><p>756. Serajee FJ, Mahbubul Huq AH. Association of Y chromosome haplotypes with autism. J Child Neurol 2009; 24(10): 1258-1261.</p><p>757. Serajee FJ, Nabi R, Zhong H, Huq M. Polymorphisms in xenobiotic metabolism genes and autism. J Child Neurol 2004; 19(6): 413-417.</p><p>758. Serajee FJ, Nabi R, Zhong H, Mahbubul Huq AH. Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. J Med Genet 2003; 40(11): e119.</p><p>64 759. Serajee FJ, Zhong H, Mahbubul Huq AH. Association of Reelin gene polymorphisms with autism. Genomics 2006; 87(1): 75-83.</p><p>760. Serajee FJ, Zhong H, Nabi R, Huq AH. The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism. J Med Genet 2003; 40(4): e42.</p><p>761. Seshadri K, Wallerstein R, Burack G. 18q- chromosomal abnormality in a phenotypically normal 2 1/2-year-old male with autism. Dev Med Child Neurol 1992; 34(11): 1005- 1009.</p><p>762. Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002; 35(2): 243-254.</p><p>763. Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 2002; 71(6): 1259-1272.</p><p>764. Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM et al. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 2003; 72(3): 539-548.</p><p>765. Shao Y, Raiford KL, Wolpert CM, Cope HA, Ravan SA, Ashley-Koch AA et al. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 2002; 70(4): 1058-1061.</p><p>766. Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA et al. Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 2002; 114(1): 99- 105.</p><p>767. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125(4): e727-735.</p><p>768. Shetty AK, Chatters R, Tilton AH, Lacassie Y. Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome. J Child Neurol 2000; 15(1): 61-63.</p><p>769. Shibayama A, Cook EH, Jr., Feng J, Glanzmann C, Yan J, Craddock N et al. MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet B Neuropsychiatr Genet 2004; 128B(1): 50-53.</p><p>770. Shinahara K, Saijo T, Mori K, Kuroda Y. Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. J Med Invest 2004; 51(1-2): 52-58. 65 771. Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F. The Xp contiguous deletion syndrome and autism. Am J Med Genet A 2009; 149A(6): 1138-1148.</p><p>772. Shuang M, Liu J, Jia MX, Yang JZ, Wu SP, Gong XH et al. Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios. Am J Med Genet B Neuropsychiatr Genet 2004; 131B(1): 48-50.</p><p>773. Sieg KG. Co-occurrence of X-linked congenital adrenal hypoplasia and autistic disorder. J Neuropsychiatry Clin Neurosci 2009; 21(2): 227-228.</p><p>774. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A 2006; 140(14): 1511-1518.</p><p>775. Silva AE, Vayego-Lourenco SA, Fett-Conte AC, Goloni-Bertollo EM, Varella-Garcia M. Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder. Arq Neuropsiquiatr 2002; 60(2-A): 290-294.</p><p>776. Silverman JM, Buxbaum JD, Ramoz N, Schmeidler J, Reichenberg A, Hollander E et al. Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. Am J Med Genet B Neuropsychiatr Genet 2008; 147(3): 408-410.</p><p>777. Silverman JM, Smith CJ, Schmeidler J, Hollander E, Lawlor BA, Fitzgerald M et al. Symptom domains in autism and related conditions: evidence for familiality. Am J Med Genet 2002; 114(1): 64-73.</p><p>778. Simic M, Turk J. Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports. Eur Child Adolesc Psychiatry 2004; 13(6): 389-393.</p><p>779. Simon EW, Haas-Givler B, Finucane B. A longitudinal follow-up study of autistic symptoms in children and adults with duplications of 15q11-13. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(2): 463-467.</p><p>780. Sivendran S, Patterson D, Spiegel E, McGown I, Cowley D, Colman RF. Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL. J Biol Chem 2004; 279(51): 53789-53797.</p><p>781. Sizoo B, van den Brink W, Franke B, Vasquez AA, van Wijngaarden-Cremers P, van der Gaag RJ. Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders? World J Biol Psychiatry 2010; 11(5): 699-708.</p><p>66 782. Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER et al. Analysis of the RELN gene as a genetic risk factor for autism. Mol Psychiatry 2005; 10(6): 563-571.</p><p>783. Slow E. Looping out links Rett syndrome with loss of imprinting error. Clin Genet 2005; 67(5): 391-392.</p><p>784. Smalley SL. Genetic influences in childhood-onset psychiatric disorders: autism and attention-deficit/hyperactivity disorder. Am J Hum Genet 1997; 60(6): 1276-1282.</p><p>785. Smalley SL, Kustanovich V, Minassian SL, Stone JL, Ogdie MN, McGough JJ et al. Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism. Am J Hum Genet 2002; 71(4): 959-963.</p><p>786. Smalley SL, Tanguay PE, Smith M, Gutierrez G. Autism and tuberous sclerosis. J Autism Dev Disord 1992; 22(3): 339-355.</p><p>787. Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P et al. Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR. Cytogenet Cell Genet 2001; 94(1-2): 15- 22.</p><p>788. Smith M, Filipek PA, Wu C, Bocian M, Hakim S, Modahl C et al. Analysis of a 1- megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Am J Med Genet 2000; 96(6): 765-770.</p><p>789. Smith M, Spence MA, Flodman P. Nuclear and mitochondrial genome defects in autisms. Ann N Y Acad Sci 2009; 1151: 102-132.</p><p>790. Smith M, Woodroffe A, Smith R, Holguin S, Martinez J, Filipek PA et al. Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. Cytogenet Genome Res 2002; 98(4): 233-239.</p><p>791. Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Long- term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. Clin Dysmorphol 2006; 15(2): 95-99.</p><p>792. Solis-Anez E, Delgado-Luengo W, Borjas-Fuentes L, Zabala W, Arraiz N, Pineda L et al. [Molecular analysis of the GABRB3 gene in autistic patients: an exploratory study]. Invest Clin 2007; 48(2): 225-242.</p><p>793. Sousa I, Clark TG, Holt R, Pagnamenta AT, Mulder EJ, Minderaa RB et al. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Mol Autism 2010; 1(1): 7.</p><p>67 794. Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R et al. MET and autism susceptibility: family and case-control studies. Eur J Hum Genet 2009; 17(6): 749-758.</p><p>795. Spence MA, Ritvo ER, Marazita ML, Funderburk SJ, Sparkes RS, Freeman BJ. Gene mapping studies with the syndrome of autism. Behav Genet 1985; 15(1): 1-13.</p><p>796. Spence SJ, Cantor RM, Chung L, Kim S, Geschwind DH, Alarcon M. Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(6): 591-598.</p><p>797. Spiker D, Lotspeich L, Hallmayer J, Kraemer HC, Ciaranello RD. Failure to find cytogenetic abnormalities in autistic children whose parents grew up near plastics manufacturing sites. J Autism Dev Disord 1993; 23(4): 681-682.</p><p>798. Spiker D, Lotspeich L, Kraemer HC, Hallmayer J, McMahon W, Petersen PB et al. Genetics of autism: characteristics of affected and unaffected children from 37 multiplex families. Am J Med Genet 1994; 54(1): 27-35.</p><p>799. Spiker D, Lotspeich LJ, Dimiceli S, Szatmari P, Myers RM, Risch N. Birth order effects on nonverbal IQ scores in autism multiplex families. J Autism Dev Disord 2001; 31(5): 449-460.</p><p>800. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119(1): 19-31.</p><p>801. Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. CACNA1H mutations in autism spectrum disorders. J Biol Chem 2006; 281(31): 22085-22091.</p><p>802. Sporn AL, Addington AM, Gogtay N, Ordonez AE, Gornick M, Clasen L et al. Pervasive developmental disorder and childhood-onset schizophrenia: comorbid disorder or a phenotypic variant of a very early onset illness? Biol Psychiatry 2004; 55(10): 989-994.</p><p>803. St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM et al. Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 2010; 167(11): 1364-1372.</p><p>804. Stark Z, Bruno DL, Mountford H, Lockhart PJ, Amor DJ. De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features. Eur J Med Genet 2010; 53(5): 337-339.</p><p>805. State MW. Another piece of the autism puzzle. Nat Genet 2010; 42(6): 478-479.</p><p>806. Stathis SL, Cowley DM, Broe D. Autism and adenylosuccinase deficiency. J Am Acad Child Adolesc Psychiatry 2000; 39(3): 274-275.</p><p>68 807. Steele MM, Al-Adeimi M, Siu VM, Fan YS. Brief report: A case of autism with interstitial deletion of chromosome 13. J Autism Dev Disord 2001; 31(2): 231-234.</p><p>808. Stein MT, Elias ER, Saenz M, Pickler L, Reynolds A. Autistic spectrum disorder in a 9- year-old girl with macrocephaly. J Dev Behav Pediatr 2010; 31(7): 632-634.</p><p>809. Steiner CE, Acosta AX, Guerreiro MM, Marques-de-Faria AP. Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior. Arq Neuropsiquiatr 2007; 65(2A): 202-205.</p><p>810. Steiner CE, Guerreiro MM, Marques-de-Faria AP. Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders. Arq Neuropsiquiatr 2003; 61(2A): 176-180.</p><p>811. Steiner CE, Guerreiro MM, Marques-de-Faria AP, Lopes-Cendes I. Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders. Arq Neuropsiquiatr 2005; 63(3A): 564-570.</p><p>812. Stilp RL, Gernsbacher MA, Schweigert EK, Arneson CL, Goldsmith HH. Genetic variance for autism screening items in an unselected sample of toddler-age twins. J Am Acad Child Adolesc Psychiatry 2010; 49(3): 267-276.</p><p>813. Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF. High density SNP association study of a major autism linkage region on chromosome 17. Hum Mol Genet 2007; 16(6): 704-715.</p><p>814. Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH et al. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 2004; 75(6): 1117-1123.</p><p>815. Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H et al. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet 1992; 1(1): 59-63.</p><p>816. Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH et al. High- density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Mol Psychiatry 2010; 15(10): 996-1005.</p><p>817. Strutz-Seebohm N, Korniychuk G, Schwarz R, Baltaev R, Ureche ON, Mack AF et al. Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism. Cell Physiol Biochem 2006; 18(4-5): 287-294.</p><p>818. Stuart SW, King CH, Pai GS. Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report. MedGenMed 2007; 9(4): 60.</p><p>69 819. Sugie Y, Sugie H, Fukuda T, Ito M, Ohzeki T. [Studies on the adverse effects of fluvoxamine treatment in children with autistic disorder: correlation with genetic polymorphism in serotonin related genes]. No To Hattatsu 2003; 35(3): 233-237.</p><p>820. Sugie Y, Sugie H, Fukuda T, Ito M, Ohzeki T. [Serotonin 2A receptor gene polymorphism and clinical efficacy of fluvoxamine in children with autistic disorder]. No To Hattatsu 2003; 35(1): 23-28.</p><p>821. Sugie Y, Sugie H, Fukuda T, Ito M, Sasada Y, Nakabayashi M et al. Clinical efficacy of fluvoxamine and functional polymorphism in a serotonin transporter gene on childhood autism. J Autism Dev Disord 2005; 35(3): 377-385.</p><p>822. Sugie Y, Sugie H, Fukuda T, Osawa J. Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length. Brain Dev 2010; 32(5): 356-361.</p><p>823. Sukumar S, Wang S, Hoang K, Vanchiere CM, England K, Fick R et al. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH. Am J Med Genet 1999; 87(1): 17-22.</p><p>824. Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W et al. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 2002; 80(2): 129-134.</p><p>825. Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L et al. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. Am J Hum Genet 2005; 77(2): 265-279.</p><p>826. Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM. Reciprocal co- regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet 2009; 18(3): 525-534.</p><p>827. Sweeten TL, Odell DW, Odell JD, Torres AR. C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism. BMC Med Genet 2008; 9: 1.</p><p>828. Swillen A, Hellemans H, Steyaert J, Fryns JP. Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium. Am J Med Genet 1996; 67(3): 315-316.</p><p>829. Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT et al. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet 2009; 17(10): 1347-1353.</p><p>830. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39(3): 319-328. 70 831. Talebizadeh Z, Bittel DC, Miles JH, Takahashi N, Wang CH, Kibiryeva N et al. No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet 2002; 39(11): e70.</p><p>832. Talebizadeh Z, Bittel DC, Veatch OJ, Butler MG, Takahashi TN, Miles JH. Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism? J Autism Dev Disord 2004; 34(6): 735-736.</p><p>833. Talebizadeh Z, Bittel DC, Veatch OJ, Kibiryeva N, Butler MG. Brief report: non-random X chromosome inactivation in females with autism. J Autism Dev Disord 2005; 35(5): 675-681.</p><p>834. Talebizadeh Z, Butler MG, Theodoro MF. Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism. Autism Res 2008; 1(4): 240-250.</p><p>835. Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG. Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J Med Genet 2006; 43(5): e21.</p><p>836. Tan GC, Doke TF, Ashburner J, Wood NW, Frackowiak RS. Normal variation in fronto- occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. Neuroimage 2010; 53(3): 1030-1042.</p><p>837. Taniai H, Nishiyama T, Miyachi T, Imaeda M, Sumi S. Genetic influences on the broad spectrum of autism: study of proband-ascertained twins. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(6): 844-849.</p><p>838. Tansey KE, Brookes KJ, Hill MJ, Cochrane LE, Gill M, Skuse D et al. Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies. Neurosci Lett 2010; 474(3): 163-167.</p><p>839. Tarelho LG, Assumpcao FB, Jr. A case of pervasive developmental disorder with chromosomal translocation 1-4. Arq Neuropsiquiatr 2007; 65(1): 153-156.</p><p>840. Taurines R, Thome J, Duvigneau JC, Forbes-Robertson S, Yang L, Klampfl K et al. Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia. Eur Child Adolesc Psychiatry 2010; 19(5): 441-448.</p><p>841. Tentler D, Brandberg G, Betancur C, Gillberg C, Anneren G, Orsmark C et al. A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint. Am J Med Genet 2001; 105(8): 729- 736.</p><p>71 842. Tentler D, Johannesson T, Johansson M, Rastam M, Gillberg C, Orsmark C et al. A candidate region for Asperger syndrome defined by two 17p breakpoints. Eur J Hum Genet 2003; 11(2): 189-195.</p><p>843. Thanseem I, Nakamura K, Miyachi T, Toyota T, Yamada S, Tsujii M et al. Further evidence for the role of MET in autism susceptibility. Neurosci Res 2010; 68(2): 137- 141.</p><p>844. Thatcher KN, Peddada S, Yasui DH, Lasalle JM. Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Hum Mol Genet 2005; 14(6): 785-797.</p><p>845. Thomas NS, Sharp AJ, Browne CE, Skuse D, Hardie C, Dennis NR. Xp deletions associated with autism in three females. Hum Genet 1999; 104(1): 43-48.</p><p>846. Thompson RJ, Bolton PF. Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. J Autism Dev Disord 2003; 33(2): 171-176.</p><p>847. Tierney E, Bukelis I, Thompson RE, Ahmed K, Aneja A, Kratz L et al. Abnormalities of cholesterol metabolism in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(6): 666-668.</p><p>848. Tiganov AS, Bashina VM. [Current approaches to understanding of autism in childhood]. Zh Nevrol Psikhiatr Im S S Korsakova 2005; 105(8): 4-13.</p><p>849. Tochigi M, Kato C, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H et al. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population. J Hum Genet 2007; 52(12): 985-989.</p><p>850. Tochigi M, Kato C, Ohashi J, Koishi S, Kawakubo Y, Yamamoto K et al. No association between the ryanodine receptor 3 gene and autism in a Japanese population. Psychiatry Clin Neurosci 2008; 62(3): 341-344.</p><p>851. Toma C, Rossi M, Sousa I, Blasi F, Bacchelli E, Alen R et al. Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. Mol Psychiatry 2007; 12(11): 977-979.</p><p>852. Tordjman S, Drapier D, Bonnot O, Graignic R, Fortes S, Cohen D et al. Animal models relevant to schizophrenia and autism: validity and limitations. Behav Genet 2007; 37(1): 61-78.</p><p>853. Tordjman S, Gutknecht L, Carlier M, Spitz E, Antoine C, Slama F et al. Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry 2001; 6(4): 434-439. 72 854. Torres AR. Is fever suppression involved in the etiology of autism and neurodevelopmental disorders? BMC Pediatr 2003; 3: 9.</p><p>855. Torres AR, Maciulis A, Stubbs EG, Cutler A, Odell D. The transmission disequilibrium test suggests that HLA-DR4 and DR13 are linked to autism spectrum disorder. Hum Immunol 2002; 63(4): 311-316.</p><p>856. Torres AR, Sweeten TL, Cutler A, Bedke BJ, Fillmore M, Stubbs EG et al. The association and linkage of the HLA-A2 class I allele with autism. Hum Immunol 2006; 67(4-5): 346-351.</p><p>857. Toyoda T, Nakamura K, Yamada K, Thanseem I, Anitha A, Suda S et al. SNP analyses of growth factor genes EGF, TGFbeta-1, and HGF reveal haplotypic association of EGF with autism. Biochem Biophys Res Commun 2007; 360(4): 715-720.</p><p>858. Trad PV, Schlefer E, Hertzig M, Kernberg PF. Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism. J Am Acad Child Adolesc Psychiatry 1991; 30(3): 499-506.</p><p>859. Tranebjaerg L, Kure P. Prevalence of fra(X) and other specific diagnoses in autistic individuals in a Danish county. Am J Med Genet 1991; 38(2-3): 212-214.</p><p>860. Trikalinos TA, Karvouni A, Zintzaras E, Ylisaukko-oja T, Peltonen L, Jarvela I et al. A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry 2006; 11(1): 29-36.</p><p>861. Trillingsgaard A, JR OS. Autism in Angelman syndrome: an exploration of comorbidity. Autism 2004; 8(2): 163-174.</p><p>862. Tsai LY, Crowe RR, Patil SR, Murray J, Quinn J. Search for DNA markers in two autistic males with the fragile X syndrome. J Autism Dev Disord 1988; 18(4): 681-685.</p><p>863. Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet 2002; 112(4): 405-411.</p><p>864. Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C et al. Aminoacylase 1 deficiency associated with autistic behavior. J Inherit Metab Dis 2010.</p><p>865. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007; 28(7): 674-682.</p><p>866. Vallipuram J, Grenville J, Crawford DA. The E646D-ATP13A4 mutation associated with autism reveals a defect in calcium regulation. Cell Mol Neurobiol 2010; 30(2): 233-246. 73 867. van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, Vorstman JA et al. Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS One 2009; 4(5): e5324.</p><p>868. van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV et al. A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(4): 960-966.</p><p>869. Varga EA, Pastore M, Prior T, Herman GE, McBride KL. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med 2009; 11(2): 111-117.</p><p>870. Vazna A, Havlovicova M, Sedlacek Z. Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism. Gene 2008; 407(1-2): 186-192.</p><p>871. Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M et al. FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. Am J Med Genet A 2010; 152A(5): 1273-1277.</p><p>872. Veenstra-VanderWeele J, Gonen D, Leventhal BL, Cook EH, Jr. Mutation screening of the UBE3A/E6-AP gene in autistic disorder. Mol Psychiatry 1999; 4(1): 64-67.</p><p>873. Veenstra-VanderWeele J, Kim SJ, Lord C, Courchesne R, Akshoomoff N, Leventhal BL et al. Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism. Am J Med Genet 2002; 114(3): 277-283.</p><p>874. Veltman MW, Craig EE, Bolton PF. Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatr Genet 2005; 15(4): 243-254.</p><p>875. Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF. Prader- Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. Eur Child Adolesc Psychiatry 2004; 13(1): 42-50.</p><p>876. Verri A, Maraschio P, Devriendt K, Uggetti C, Spadoni E, Haeusler E et al. Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet 2004; 47(3): 281-287.</p><p>877. Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ et al. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Psychiatr Genet 2008; 18(3): 101- 109.</p><p>74 878. Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW. Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 2000; 67(2): 510-514.</p><p>879. Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P et al. An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. J Med Genet 2006; 43(5): 429-434.</p><p>880. Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Am J Med Genet B Neuropsychiatr Genet 2004; 129B(1): 82-84.</p><p>881. Vincent JB, Konecki DS, Munstermann E, Bolton P, Poustka A, Poustka F et al. Point mutation analysis of the FMR-1 gene in autism. Mol Psychiatry 1996; 1(3): 227-231.</p><p>882. Vincent JB, Melmer G, Bolton PF, Hodgkinson S, Holmes D, Curtis D et al. Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region. Psychiatr Genet 2005; 15(2): 83-90.</p><p>883. Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE et al. Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. Am J Med Genet B Neuropsychiatr Genet 2009; 150B(6): 817-826.</p><p>884. Vincent JB, Thevarkunnel S, Kolozsvari D, Paterson AD, Roberts W, Scherer SW. Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism. Am J Med Genet B Neuropsychiatr Genet 2004; 125B(1): 54-56.</p><p>885. Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Mol Hum Reprod 2007; 13(9): 685-689.</p><p>886. Vorsanova SG, Iurov I, Demidova IA, Voinova-Ulas V, Kravets VS, Solov'ev IV et al. [Variations of heterochromatic chromosomal regions and chromosome abnormalities in children with autism: identification of genetic markers in autistic spectrum disorders]. Zh Nevrol Psikhiatr Im S S Korsakova 2006; 106(6): 52-57.</p><p>887. Vorsanova SG, Yurov IY, Demidova IA, Voinova-Ulas VY, Kravets VS, Solov'ev IV et al. Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: identification of genetic markers of autistic spectrum disorders. Neurosci Behav Physiol 2007; 37(6): 553-558.</p><p>888. Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006; 45(9): 1104-1113. 75 889. Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11(1): 1, 18-28.</p><p>890. Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthelemy C, Muh JP et al. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet 2001; 9(7): 556-558.</p><p>891. Vourc'h P, Martin I, Bonnet-Brilhault F, Marouillat S, Barthelemy C, Pierre Muh J et al. Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder. Psychiatr Genet 2003; 13(4): 221-225.</p><p>892. Vourc'h P, Martin I, Marouillat S, Adrien JL, Barthelemy C, Moraine C et al. Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder. Neurosci Lett 2003; 338(2): 115-118.</p><p>893. Vourc'h P, Petit E, Muh JP, Andres C, Bienvenu T, Beldjord C et al. Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder. Am J Med Genet 2002; 108(2): 164-167.</p><p>894. Wahlstrom J, Gillberg C, Gustavson KH, Holmgren G. Infantile autism and the fragile X. A Swedish multicenter study. Am J Med Genet 1986; 23(1-2): 403-408.</p><p>895. Wahlstrom J, Steffenburg S, Hellgren L, Gillberg C. Chromosome findings in twins with early-onset autistic disorder. Am J Med Genet 1989; 32(1): 19-21.</p><p>896. Wall DP, Esteban FJ, Deluca TF, Huyck M, Monaghan T, Velez de Mendizabal N et al. Comparative analysis of neurological disorders focuses genome-wide search for autism genes. Genomics 2009; 93(2): 120-129.</p><p>897. Walsh CA, Morrow EM, Rubenstein JL. Autism and brain development. Cell 2008; 135(3): 396-400.</p><p>898. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459(7246): 528-533.</p><p>899. Wang L, Jia M, Yue W, Tang F, Qu M, Ruan Y et al. Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(4): 434-438.</p><p>900. Wang LS, Hranilovic D, Wang K, Lindquist IE, Yurcaba L, Petkovic ZB et al. Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. BMC Med Genet 2010; 11: 134.</p><p>76 901. Warburton P, Baird G, Chen W, Morris K, Jacobs BW, Hodgson S et al. Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet 2000; 96(2): 228-234.</p><p>902. Warren RP, Odell JD, Warren WL, Burger RA, Maciulis A, Daniels WW et al. Strong association of the third hypervariable region of HLA-DR beta 1 with autism. J Neuroimmunol 1996; 67(2): 97-102.</p><p>903. Warren RP, Singh VK, Averett RE, Odell JD, Maciulis A, Burger RA et al. Immunogenetic studies in autism and related disorders. Mol Chem Neuropathol 1996; 28(1-3): 77-81.</p><p>904. Warren RP, Singh VK, Cole P, Odell JD, Pingree CB, Warren WL et al. Possible association of the extended MHC haplotype B44-SC30-DR4 with autism. Immunogenetics 1992; 36(4): 203-207.</p><p>905. Warren RP, Singh VK, Cole P, Odell JD, Pingree CB, Warren WL et al. Increased frequency of the null allele at the complement C4b locus in autism. Clin Exp Immunol 1991; 83(3): 438-440.</p><p>906. Wassink TH, Hazlett HC, Epping EA, Arndt S, Dager SR, Schellenberg GD et al. Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism. Arch Gen Psychiatry 2007; 64(6): 709-717.</p><p>907. Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J et al. A case of autism and uniparental disomy of chromosome 1. Hum Genet 2005; 117(2-3): 200-206.</p><p>908. Wassink TH, Losh M, Piven J, Sheffield VC, Ashley E, Westin ER et al. Systematic screening for subtelomeric anomalies in a clinical sample of autism. J Autism Dev Disord 2007; 37(4): 703-708.</p><p>909. Wassink TH, Piven J, Patil SR. Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatr Genet 2001; 11(2): 57-63.</p><p>910. Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J et al. Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 2001; 105(5): 406- 413.</p><p>911. Wassink TH, Piven J, Vieland VJ, Jenkins L, Frantz R, Bartlett CW et al. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet 2005; 136B(1): 36-44.</p><p>912. Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE et al. Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet 2002; 114(5): 566-569.</p><p>77 913. Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE et al. Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry 2004; 9(10): 968-972.</p><p>914. Wassink TH, Vieland VJ, Sheffield VC, Bartlett CW, Goedken R, Childress D et al. Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16. Psychiatr Genet 2008; 18(2): 85-91.</p><p>915. Watson MS, Leckman JF, Annex B, Breg WR, Boles D, Volkmar FR et al. Fragile X in a survey of 75 autistic males. N Engl J Med 1984; 310(22): 1462.</p><p>916. Weidmer-Mikhail E, Sheldon S, Ghaziuddin M. Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. J Intellect Disabil Res 1998; 42 ( Pt 1): 8-12.</p><p>917. Weiss LA. Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans. Expert Rev Mol Diagn 2009; 9(8): 795-803.</p><p>918. Weiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461(7265): 802-808.</p><p>919. Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry 2003; 8(2): 186-194.</p><p>920. Weiss LA, Kosova G, Delahanty RJ, Jiang L, Cook EH, Ober C et al. Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility. Eur J Hum Genet 2006; 14(8): 923-931.</p><p>921. Weiss LA, Ober C, Cook EH, Jr. ITGB3 shows genetic and expression interaction with SLC6A4. Hum Genet 2006; 120(1): 93-100.</p><p>922. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358(7): 667-675.</p><p>923. Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL et al. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One 2008; 3(11): e3815.</p><p>924. Wendland JR, DeGuzman TB, McMahon F, Rudnick G, Detera-Wadleigh SD, Murphy DL. SERT Ileu425Val in autism, Asperger syndrome and obsessive-compulsive disorder. Psychiatr Genet 2008; 18(1): 31-39.</p><p>925. Wermter AK, Kamp-Becker I, Hesse P, Schulte-Korne G, Strauch K, Remschmidt H. Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) </p><p>78 in the etiology of autistic disorders on high-functioning level. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(2): 629-639.</p><p>926. Wermter AK, Kamp-Becker I, Strauch K, Schulte-Korne G, Remschmidt H. No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level. Am J Med Genet B Neuropsychiatr Genet 2008; 147B(4): 535-537.</p><p>927. Wessels WH, Pompe van Meerdervoort M. Monozygotic twins with early infantile autism. A case report. S Afr Med J 1979; 55(23): 955-957.</p><p>928. Wier ML, Yoshida CK, Odouli R, Grether JK, Croen LA. Congenital anomalies associated with autism spectrum disorders. Dev Med Child Neurol 2006; 48(6): 500-507.</p><p>929. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R et al. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet 2010; 18(4): 429-435.</p><p>930. Williams JM, Beck TF, Pearson DM, Proud MB, Cheung SW, Scott DA. A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am J Med Genet A 2009; 149A(8): 1758-1762.</p><p>931. Williams PG, Hersh JH. Brief report: the association of neurofibromatosis type 1 and autism. J Autism Dev Disord 1998; 28(6): 567-571.</p><p>932. Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. J Med Genet 2010; 47(4): 223-229.</p><p>933. Williams TA, Mars AE, Buyske SG, Stenroos ES, Wang R, Factura-Santiago MF et al. Risk of autistic disorder in affected offspring of mothers with a glutathione S-transferase P1 haplotype. Arch Pediatr Adolesc Med 2007; 161(4): 356-361.</p><p>934. Wimpory D, Nicholas B, Nash S. Social timing, clock genes and autism: a new hypothesis. J Intellect Disabil Res 2002; 46(Pt 4): 352-358.</p><p>935. Wisniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, Savage S et al. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(5): 983-993.</p><p>936. Wolff DJ, Clifton K, Karr C, Charles J. Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion. Genet Med 2002; 4(1): 10-14.</p><p>79 937. Wolf-Schein EG, Jenkins EC, Sklower S, Cohen IL, Wisniewski KE, Brown WT. On the association of fragile X with autism. J Autism Dev Disord 1988; 18(3): 457-458.</p><p>938. Wolpert CM, Donnelly SL, Cuccaro ML, Hedges DJ, Poole CP, Wright HH et al. De novo partial duplication of chromosome 7p in a male with autistic disorder. Am J Med Genet 2001; 105(3): 222-225.</p><p>939. Wolpert CM, Menold MM, Bass MP, Qumsiyeh MB, Donnelly SL, Ravan SA et al. Three probands with autistic disorder and isodicentric chromosome 15. Am J Med Genet 2000; 96(3): 365-372.</p><p>940. Wolraich M, Bzostek B, Neu RL, Gardner LI. Lack of chromosome aberrations in autism. N Engl J Med 1970; 283(22): 1231.</p><p>941. Wong V. Study of the relationship between tuberous sclerosis complex and autistic disorder. J Child Neurol 2006; 21(3): 199-204.</p><p>942. Wong VC, Lam ST. Fragile X positivity in Chinese children with autistic spectrum disorder. Pediatr Neurol 1992; 8(4): 272-274.</p><p>943. Wright HH, Young SR, Edwards JG, Abramson RK, Duncan J. Fragile X syndrome in a population of autistic children. J Am Acad Child Psychiatry 1986; 25(5): 641-644.</p><p>944. Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M et al. Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report. Mol Cytogenet 2009; 2: 27.</p><p>945. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 2005; 20(10): 790-795.</p><p>946. Wu S, Guo Y, Jia M, Ruan Y, Shuang M, Liu J et al. Lack of evidence for association between the serotonin transporter gene (SLC6A4) polymorphisms and autism in the Chinese trios. Neurosci Lett 2005; 381(1-2): 1-5.</p><p>947. Wu S, Jia M, Ruan Y, Liu J, Guo Y, Shuang M et al. Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Biol Psychiatry 2005; 58(1): 74-77.</p><p>948. Wu S, Yue W, Jia M, Ruan Y, Lu T, Gong X et al. Association of the neuropilin-2 (NRP2) gene polymorphisms with autism in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 2007; 144B(4): 492-495.</p><p>949. Wu YY, Chien WH, Huang YS, Gau SS, Chen CH. Lack of evidence to support the glyoxalase 1 gene (GLO1) as a risk gene of autism in Han Chinese patients from Taiwan. Prog Neuropsychopharmacol Biol Psychiatry 2008; 32(7): 1740-1744.</p><p>80 950. Xi CY, Ma HW, Lu Y, Zhao YJ, Hua TY, Zhao Y et al. MeCP2 gene mutation analysis in autistic boys with developmental regression. Psychiatr Genet 2007; 17(2): 113-116.</p><p>951. Xiao GH, Lai FY, Chen Z, Chen ZH, Lu BQ. [Fragile X syndrome complicated by autism]. Zhonghua Yi Xue Za Zhi 1989; 69(5): 284-285.</p><p>952. Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS. Characterization of 11p14- p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. Cytogenet Genome Res 2008; 122(2): 181-187.</p><p>953. Yamagata T, Aradhya S, Mori M, Inoue K, Momoi MY, Nelson DL. The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism. Genomics 2002; 80(2): 185-194.</p><p>954. Yamakawa H, Oyama S, Mitsuhashi H, Sasagawa N, Uchino S, Kohsaka S et al. Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations. Biochem Biophys Res Commun 2007; 355(1): 41-46.</p><p>955. Yan G, Liang Y, Wang Y, Huang W, Zou X, Zhong N. [Copy number variation analysis of a Chinese Han family with autism spectrum disorder]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010; 27(6): 654-658.</p><p>956. Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE et al. Analysis of the neuroligin 4Y gene in patients with autism. Psychiatr Genet 2008; 18(4): 204-207.</p><p>957. Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C et al. Neurexin 1alpha structural variants associated with autism. Neurosci Lett 2008; 438(3): 368-370.</p><p>958. Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C et al. Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol Psychiatry 2005; 10(4): 329-332.</p><p>959. Yan WL, Guan XY, Green ED, Nicolson R, Yap TK, Zhang J et al. Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21. Am J Med Genet 2000; 96(6): 749-753.</p><p>960. Yang MS, Cochrane L, Conroy J, Hawi Z, Fitzgerald M, Gallagher L et al. Protein kinase C-beta 1 gene variants are not associated with autism in the Irish population. Psychiatr Genet 2007; 17(1): 39-41.</p><p>961. Yang P, Lung FW, Jong YJ, Hsieh HY, Liang CL, Juo SH. Association of the homeobox transcription factor gene ENGRAILED 2 with autistic disorder in Chinese children. Neuropsychobiology 2008; 57(1-2): 3-8.</p><p>81 962. Yang P, Shu BC, Hallmayer JF, Lung FW. Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population. Neuropsychobiology 2010; 62(2): 104-115.</p><p>963. Yang SY, Cho SC, Yoo HJ, Cho IH, Park M, Kim BN et al. Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. Neurosci Lett 2010; 479(3): 197-200.</p><p>964. Yirmiya N, Pilowsky T, Nemanov L, Arbelle S, Feinsilver T, Fried I et al. Evidence for an association with the serotonin transporter promoter region polymorphism and autism. Am J Med Genet 2001; 105(4): 381-386.</p><p>965. Yirmiya N, Pilowsky T, Tidhar S, Nemanov L, Altmark L, Ebstein RP. Family-based and population study of a functional promoter-region monoamine oxidase A polymorphism in autism: possible association with IQ. Am J Med Genet 2002; 114(3): 284-287.</p><p>966. Yirmiya N, Rosenberg C, Levi S, Salomon S, Shulman C, Nemanov L et al. Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family- based study: mediation by socialization skills. Mol Psychiatry 2006; 11(5): 488-494.</p><p>967. Ylisaukko-oja T, Alarcon M, Cantor RM, Auranen M, Vanhala R, Kempas E et al. Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Ann Neurol 2006; 59(1): 145-155.</p><p>968. Ylisaukko-oja T, Nieminen-von Wendt T, Kempas E, Sarenius S, Varilo T, von Wendt L et al. Genome-wide scan for loci of Asperger syndrome. Mol Psychiatry 2004; 9(2): 161- 168.</p><p>969. Ylisaukko-Oja T, Peyrard-Janvid M, Lindgren CM, Rehnstrom K, Vanhala R, Peltonen L et al. Family-based association study of DYX1C1 variants in autism. Eur J Hum Genet 2005; 13(1): 127-130.</p><p>970. Ylisaukko-oja T, Rehnstrom K, Auranen M, Vanhala R, Alen R, Kempas E et al. Analysis of four neuroligin genes as candidates for autism. Eur J Hum Genet 2005; 13(12): 1285-1292.</p><p>971. Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA et al. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 2003; 73(4): 886-897.</p><p>972. Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM et al. Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav 2003; 2(5): 303-320.</p><p>82 973. Yoo HJ, Cho IH, Park M, Cho E, Cho SC, Kim BN et al. Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios. Neurosci Res 2008; 62(1): 66-69.</p><p>974. Yoo HJ, Lee SK, Park M, Cho IH, Hyun SH, Lee JC et al. Family- and population-based association studies of monoamine oxidase A and autism spectrum disorders in Korean. Neurosci Res 2009; 63(3): 172-176.</p><p>975. Young DM, Schenk AK, Yang SB, Jan YN, Jan LY. Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism. Proc Natl Acad Sci U S A 2010; 107(24): 11074-11079.</p><p>976. Young LJ, Pitkow LJ, Ferguson JN. Neuropeptides and social behavior: animal models relevant to autism. Mol Psychiatry 2002; 7 Suppl 2: S38-39.</p><p>977. Yrigollen CM, Han SS, Kochetkova A, Babitz T, Chang JT, Volkmar FR et al. Genes controlling affiliative behavior as candidate genes for autism. Biol Psychiatry 2008; 63(10): 911-916.</p><p>978. Yu CE, Dawson G, Munson J, D'Souza I, Osterling J, Estes A et al. Presence of large deletions in kindreds with autism. Am J Hum Genet 2002; 71(1): 100-115.</p><p>979. Yurov YB, Vorsanova SG, Iourov IY, Demidova IA, Beresheva AK, Kravetz VS et al. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet 2007; 44(8): 521-525.</p><p>980. Yvonneau M, Grasset M, Ben Hamida M, Germe G. [Fragile X and autistic mental retardation]. Encephale 1984; 10(2): 93-97.</p><p>981. Zafeiriou DI, Ververi A, Salomons GS, Vargiami E, Haas D, Papadopoulou V et al. L-2- Hydroxyglutaric aciduria presenting with severe autistic features. Brain Dev 2008; 30(4): 305-307.</p><p>982. Zappella M. Autism and hypomelanosis of Ito in twins. Dev Med Child Neurol 1993; 35(9): 826-832.</p><p>983. Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L et al. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet 2003; 119B(1): 102-107.</p><p>984. Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher TA et al. A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci 2009; 29(35): 10843-10854.</p><p>985. Zhang H, Liu X, Zhang C, Mundo E, Macciardi F, Grayson DR et al. Reelin gene alleles and susceptibility to autism spectrum disorders. Mol Psychiatry 2002; 7(9): 1012-1017. 83 986. Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY. Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. Biochem Biophys Res Commun 2008; 377(3): 926-929.</p><p>987. Zhong H, Serajee FJ, Nabi R, Huq AH. No association between the EN2 gene and autistic disorder. J Med Genet 2003; 40(1): e4.</p><p>988. Zhong N, Ye L, Ju W, Brown WT, Tsiouris J, Cohen I. 5-HTTLPR variants not associated with autistic spectrum disorders. Neurogenetics 1999; 2(2): 129-131.</p><p>989. Zhou XL, Giacobini M, Anderlid BM, Anckarsater H, Omrani D, Gillberg C et al. Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). Am J Med Genet B Neuropsychiatr Genet 2007; 144B(3): 351- 354.</p><p>990. Zwaigenbaum L, Sonnenberg LK, Heshka T, Eastwood S, Xu J. A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p. J Autism Dev Disord 2005; 35(3): 393-399.</p><p>Reviews or hypothesis papers</p><p>1. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008; 9(5): 341-355.</p><p>2. Abrahams BS, Geschwind DH. Connecting genes to brain in the autism spectrum disorders. Arch Neurol 2010; 67(4): 395-399.</p><p>3. Amano K, Nomura Y, Segawa M, Yamakawa K. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J Hum Genet 2000; 45(4): 231-236.</p><p>4. Andres C. Molecular genetics and animal models in autistic disorder. Brain Res Bull 2002; 57(1): 109-119.</p><p>5. Annett M. Schizophrenia and autism considered as the products of an agnosic right shift gene. Cogn Neuropsychiatry 1997; 2(3): 195-214.</p><p>6. Annett M. The theory of an agnosic right shift gene in schizophrenia and autism. Schizophr Res 1999; 39(3): 177-182.</p><p>7. Anvret M, Clarke A. Genetics and Rett syndrome. Eur Child Adolesc Psychiatry 1997; 6 Suppl 1: 89-90.</p><p>84 8. Anvret M, Wahlstrom J. Genetics of the Rett syndrome. Brain Dev 1992; 14 Suppl: S101-103.</p><p>9. Anvret M, Zhang ZP. Current status of genetic research in Rett syndrome. Neuropediatrics 1995; 26(2): 88-89.</p><p>10. Artigas-Pallares J, Gabau-Vila E, Guitart-Feliubadalo M. [Syndromic autism: II. Genetic syndromes associated with autism]. Rev Neurol 2005; 40 Suppl 1: S151-162.</p><p>11. Bacchelli E, Maestrini E. Autism spectrum disorders: molecular genetic advances. Am J Med Genet C Semin Med Genet 2006; 142C(1): 13-23.</p><p>12. Badcock C, Crespi B. Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism. J Evol Biol 2006; 19(4): 1007-1032.</p><p>13. Balmer D, Arredondo J, Samaco RC, LaSalle JM. MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Hum Genet 2002; 110(6): 545-552.</p><p>14. Barnby G, Monaco AP. Strategies for autism candidate gene analysis. Novartis Found Symp 2003; 251: 48-63; discussion 63-49, 109-111, 281-197.</p><p>15. Bartlett CW, Gharani N, Millonig JH, Brzustowicz LM. Three autism candidate genes: a synthesis of human genetic analysis with other disciplines. Int J Dev Neurosci 2005; 23(2-3): 221-234.</p><p>16. Basu SN, Kollu R, Banerjee-Basu S. AutDB: a gene reference resource for autism research. Nucleic Acids Res 2009; 37(Database issue): D832-836.</p><p>17. Battaglia A. On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies. Am J Med Genet A 2007; 143A(8): 789- 790.</p><p>18. Bayes M, Ramos JA, Cormand B, Hervas-Zuniga A, del Campo M, Duran-Tauleria E et al. [Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. Rev Neurol 2005; 40 Suppl 1: S187-190.</p><p>19. Bayou N, M'Rad R, Ahlem B, Bechir Helayem M, Chaabouni H. Autism: an overview of genetic aetiology. Tunis Med 2008; 86(6): 573-578.</p><p>20. Beaudet AL. Autism: highly heritable but not inherited. Nat Med 2007; 13(5): 534-536.</p><p>21. Belmonte MK, Bourgeron T. Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci 2006; 9(10): 1221-1225.</p><p>85 22. Benedetti L, Munnich A, Melki J, Tardieu M, Turleau C. Parental origin of the X chromosomes in Rett syndrome. Am J Med Genet 1992; 44(1): 121-123.</p><p>23. Benvenuto A, Manzi B, Alessandrelli R, Galasso C, Curatolo P. Recent advances in the pathogenesis of syndromic autisms. Int J Pediatr 2009; 2009: 198736.</p><p>24. Benvenuto A, Moavero R, Alessandrelli R, Manzi B, Curatolo P. Syndromic autism: causes and pathogenetic pathways. World J Pediatr 2009; 5(3): 169-176.</p><p>25. Bespalova IN, Buxbaum JD. Disease susceptibility genes for autism. Ann Med 2003; 35(4): 274-281.</p><p>26. Betancur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci 2009; 32(7): 402-412.</p><p>27. Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000; 9(9): 1377-1384.</p><p>28. Bill BR, Geschwind DH. Genetic advances in autism: heterogeneity and convergence on shared pathways. Curr Opin Genet Dev 2009; 19(3): 271-278.</p><p>29. Bohm HV, Stewart MG. Brief report: on the concordance percentages for Autistic Spectrum Disorder of twins. J Autism Dev Disord 2009; 39(5): 806-808.</p><p>30. Bourgeron T. The possible interplay of synaptic and clock genes in autism spectrum disorders. Cold Spring Harb Symp Quant Biol 2007; 72: 645-654.</p><p>31. Bourgeron T. A synaptic trek to autism. Curr Opin Neurobiol 2009; 19(2): 231-234.</p><p>32. Bourgeron T, Leboyer M, Delorme R. [Autism: more evidence of a genetic cause]. Bull Acad Natl Med 2009; 193(2): 299-304; discussion 304-295.</p><p>33. Buhler EM, Malik NJ, Alkan M. Another model for the inheritance of Rett syndrome. Am J Med Genet 1990; 36(1): 126-131.</p><p>34. Buhler EM, Malik NJ, Alkan M. Rett syndrome and genetic drift. Brain Dev 1999; 21(3): 175-178.</p><p>35. Buxbaum JD. Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci 2009; 11(1): 35-43.</p><p>36. Caglayan AO. Genetic causes of syndromic and non-syndromic autism. Dev Med Child Neurol 2010; 52(2): 130-138.</p><p>86 37. Cantor RM. Molecular genetics of autism. Curr Psychiatry Rep 2009; 11(2): 137-142.</p><p>38. Carroll LS, Owen MJ. Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med 2009; 1(10): 102.</p><p>39. Casanova MF. Neuropathological and genetic findings in autism: the significance of a putative minicolumnopathy. Neuroscientist 2006; 12(5): 435-441.</p><p>40. Castermans D, Wilquet V, Steyaert J, Van de Ven W, Fryns JP, Devriendt K. Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism. Autism 2004; 8(2): 141-161.</p><p>41. Chamak B. [Autism: overestimation of the genetic origins]. Med Sci (Paris) 2010; 26(6- 7): 659-662.</p><p>42. Chudley AE. Genetic landmarks through philately - autism spectrum disorders: a genetic update. Clin Genet 2004; 65(5): 352-357.</p><p>43. Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E et al. Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord 2005; 35(1): 103-116.</p><p>44. Comings DE. The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. Am J Med Genet Suppl 1986; 1: 383-388.</p><p>45. Cook EH, Jr. Genetics of autism. Child Adolesc Psychiatr Clin N Am 2001; 10(2): 333- 350.</p><p>46. Cordeiro Q, Vallada H. Genetics of autism. Rev Bras Psiquiatr 2005; 27(3): 257.</p><p>47. Crespi B, Stead P, Elliot M. Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. Proc Natl Acad Sci U S A 2010; 107 Suppl 1: 1736-1741.</p><p>48. Delong R. GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. Autism 2007; 11(2): 135-147.</p><p>49. Demonceau N, Roubertie A, Cheminal R, Leydet J, Rivier F, Echenne B. [Genetics contribution to the understanding of autism]. Arch Pediatr 2005; 12(10): 1509-1512.</p><p>50. El-Fishawy P, State MW. The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am 2010; 33(1): 83-105.</p><p>51. el-Hazmi MA. Autism and mental retardation: the genetic relationship and contribution. East Mediterr Health J 2001; 7(3): 536-543. 87 52. Ellaway C, Christodoulou J. Rett syndrome: clinical update and review of recent genetic advances. J Paediatr Child Health 1999; 35(5): 419-426.</p><p>53. Ellaway C, Christodoulou J. Rett syndrome: clinical characteristics and recent genetic advances. Disabil Rehabil 2001; 23(3-4): 98-106.</p><p>54. Fatemi SH, Reutiman TJ, Folsom TD, Sidwell RW. The role of cerebellar genes in pathology of autism and schizophrenia. Cerebellum 2008; 7(3): 279-294.</p><p>55. Fischer KM. Expanded (CAG)n, (CGG)n and (GAA)n trinucleotide repeat microsatellites, and mutant purine synthesis and pigmentation genes cause schizophrenia and autism. Med Hypotheses 1998; 51(3): 223-233.</p><p>56. Folstein SE. Genetic aspects of infantile autism. Annu Rev Med 1985; 36: 415-419.</p><p>57. Folstein SE, Bisson E, Santangelo SL, Piven J. Finding specific genes that cause autism: a combination of approaches will be needed to maximize power. J Autism Dev Disord 1998; 28(5): 439-445.</p><p>58. Folstein SE, Dowd M, Mankoski R, Tadevosyan O. How might genetic mechanisms operate in autism? Novartis Found Symp 2003; 251: 70-80; discussion 80-73, 109-111, 281-197.</p><p>59. Folstein SE, Mankoski RE. Chromosome 7q: where autism meets language disorder? Am J Hum Genet 2000; 67(2): 278-281.</p><p>60. Folstein SE, Piven J. Etiology of autism: genetic influences. Pediatrics 1991; 87(5 Pt 2): 767-773.</p><p>61. Folstein SE, Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2001; 2(12): 943-955.</p><p>62. Folstein SE, Rutter ML. Autism: familial aggregation and genetic implications. J Autism Dev Disord 1988; 18(1): 3-30.</p><p>63. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007; 12(1): 2-22.</p><p>64. Freitag CM. [The genetics of autistic disorders]. Z Kinder Jugendpsychiatr Psychother 2008; 36(1): 7-14; quiz 14-15.</p><p>65. Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R. Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 2010; 19(3): 169-178.</p><p>88 66. Gargus JJ. Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism. Ann N Y Acad Sci 2009; 1151: 133-156.</p><p>67. Geschwind DH. Autism: many genes, common pathways? Cell 2008; 135(3): 391-395.</p><p>68. Gillberg C. Chromosomal disorders and autism. J Autism Dev Disord 1998; 28(5): 415- 425.</p><p>69. Grice DE, Buxbaum JD. The genetics of autism spectrum disorders. Neuromolecular Med 2006; 8(4): 451-460.</p><p>70. Grigorenko EL. Pathogenesis of autism: a patchwork of genetic causes. Future Neurol 2009; 4(5): 591-599.</p><p>71. Gupta AR, State MW. [Autism: genetics]. Rev Bras Psiquiatr 2006; 28 Suppl 1: S29-38.</p><p>72. Gupta AR, State MW. Recent advances in the genetics of autism. Biol Psychiatry 2007; 61(4): 429-437.</p><p>73. Gurling H. Candidate genes and favoured loci: strategies for molecular genetic research into schizophrenia, manic depression, autism, alcoholism and Alzheimer's disease. Psychiatr Dev 1986; 4(4): 289-309.</p><p>74. Gutknecht L. Full-genome scans with autistic disorder: a review. Behav Genet 2001; 31(1): 113-123.</p><p>75. Ham AL, Kumar A, Deeter R, Schanen NC. Does genotype predict phenotype in Rett syndrome? J Child Neurol 2005; 20(9): 768-778.</p><p>76. Hanson DR, Gottesman, II. The genetics, if any, of infantile autism and childhood schizophrenia. J Autism Child Schizophr 1976; 6(3): 209-234.</p><p>77. Hillig U. On the genetics of the Rett syndrome. Brain Dev 1985; 7(3): 368-371.</p><p>78. Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001; 56(11): 1486-1495.</p><p>79. Hou M, Wang MJ, Zhong N. Principal genetic syndromes and autism: from phenotypes, proteins to genes. Beijing Da Xue Xue Bao 2006; 38(1): 110-115.</p><p>80. Huppke P, Gartner J. Molecular diagnosis of Rett syndrome. J Child Neurol 2005; 20(9): 732-736.</p><p>89 81. Ijichi S, Ijichi N. Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. Med Hypotheses 2002; 58(4): 337-339.</p><p>82. Iourov IY, Yurov YB, Vorsanova SG. Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism. Med Hypotheses 2008; 70(2): 456.</p><p>83. Israel S, Lerer E, Shalev I, Uzefovsky F, Reibold M, Bachner-Melman R et al. Molecular genetic studies of the arginine vasopressin 1a receptor (AVPR1a) and the oxytocin receptor (OXTR) in human behaviour: from autism to altruism with some notes in between. Prog Brain Res 2008; 170: 435-449.</p><p>84. Jamain S, Betancur C, Giros B, Leboyer M, Bourgeron T. [Genetics of autism: from genome scans to candidate genes]. Med Sci (Paris) 2003; 19(11): 1081-1090.</p><p>85. Jordan BR, Tsai DF. Whole-genome association studies for multigenic diseases: ethical dilemmas arising from commercialization--the case of genetic testing for autism. J Med Ethics 2010; 36(7): 440-444.</p><p>86. Junaid MA, Pullarkat RK. Proteomic approach for the elucidation of biological defects in autism. J Autism Dev Disord 2001; 31(6): 557-560.</p><p>87. Kendler KS. Advances in our understanding of genetic risk factors for autism spectrum disorders. Am J Psychiatry 2010; 167(11): 1291-1293.</p><p>88. Kinney DK, Barch DH, Chayka B, Napoleon S, Munir KM. Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder? Med Hypotheses 2010; 74(1): 102-106.</p><p>89. Klauck SM. Genetics of autism spectrum disorder. Eur J Hum Genet 2006; 14(6): 714- 720.</p><p>90. Kumar RA, Christian SL. Genetics of autism spectrum disorders. Curr Neurol Neurosci Rep 2009; 9(3): 188-197.</p><p>91. Kusenda M, Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 2008; 123(1-4): 36-43.</p><p>92. Lamb JA, Parr JR, Bailey AJ, Monaco AP. Autism: in search of susceptibility genes. Neuromolecular Med 2002; 2(1): 11-28.</p><p>93. Lasalle JM, Yasui DH. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics 2009; 1(1): 119-130.</p><p>94. Lauritsen M, Ewald H. The genetics of autism. Acta Psychiatr Scand 2001; 103(6): 411- 427. 90 95. Leonard H, Fyfe S, Dye D, Leonard S. Using genetic epidemiology to study Rett syndrome: the design of a case-control study. Paediatr Perinat Epidemiol 2000; 14(1): 85-95.</p><p>96. Levitt P, Campbell DB. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest 2009; 119(4): 747-754.</p><p>97. Lewis MJ, Dictenberg JB. Genes, brain, and behavior: development gone awry in autism? A report on the 23rd Annual International Symposium of the Center for the Study of Gene Structure and Function. Ann N Y Acad Sci 2010; 1205 Suppl 1: E21-36.</p><p>98. Lintas C, Persico AM. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet 2009; 46(1): 1-8.</p><p>99. Lintas C, Sacco R, Persico AM. Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome. Neurobiol Dis 2010.</p><p>100. Loddo S. Autism: multiple genes acting on a distributed neural target? Can J Psychiatry 2004; 49(11): 784-785.</p><p>101. Losh M, Sullivan PF, Trembath D, Piven J. Current developments in the genetics of autism: from phenome to genome. J Neuropathol Exp Neurol 2008; 67(9): 829-837.</p><p>102. Maestrini E, Marlow AJ, Weeks DE, Monaco AP. Molecular genetic investigations of autism. J Autism Dev Disord 1998; 28(5): 427-437.</p><p>103. Maestrini E, Paul A, Monaco AP, Bailey A. Identifying autism susceptibility genes. Neuron 2000; 28(1): 19-24.</p><p>104. Marco EJ, Skuse DH. Autism-lessons from the X chromosome. Soc Cogn Affect Neurosci 2006; 1(3): 183-193.</p><p>105. Martin CL, Ledbetter DH. Autism and cytogenetic abnormalities: solving autism one chromosome at a time. Curr Psychiatry Rep 2007; 9(2): 141-147.</p><p>106. Matijevic T, Knezevic J, Slavica M, Pavelic J. Rett syndrome: from the gene to the disease. Eur Neurol 2009; 61(1): 3-10.</p><p>107. Matuszek G, Talebizadeh Z. Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet 2009; 10: 102.</p><p>108. McCarthy AA. The genetics of autism. Chem Biol 2004; 11(10): 1325-1326.</p><p>91 109. Mendelsohn NJ, Schaefer GB. Genetic evaluation of autism. Semin Pediatr Neurol 2008; 15(1): 27-31.</p><p>110. Midro AT, Panasiuk B. [Genetic basis for Rett disease]. Postepy Hig Med Dosw 1997; 51(4): 399-419.</p><p>111. Miller DT. Genetic testing for autism: recent advances and clinical implications. Expert Rev Mol Diagn 2010; 10(7): 837-840.</p><p>112. Miller MT, Stromland K, Ventura L, Johansson M, Bandim JM, Gillberg C. Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. Int J Dev Neurosci 2005; 23(2-3): 201-219.</p><p>113. Momoi T, Fujita E, Senoo H, Momoi M. Genetic factors and epigenetic factors for autism: endoplasmic reticulum stress and impaired synaptic function. Cell Biol Int 2010; 34(1): 13-19.</p><p>114. Monaco AP, Bailey AJ. Autism. The search for susceptibility genes. Lancet 2001; 358 Suppl: S3.</p><p>115. Moraine C, Bonnet-Brilhault F, Laumonnier F, Gomot M. Could autism with mental retardation result from digenism and frequent de novo mutations? World J Biol Psychiatry 2009; 10(4 Pt 3): 1030-1036.</p><p>116. Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006; 16(3): 276-281.</p><p>117. Moy SS, Nadler JJ. Advances in behavioral genetics: mouse models of autism. Mol Psychiatry 2008; 13(1): 4-26.</p><p>118. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113(5): e472-486.</p><p>119. Munoz-Yunta JA, Palau-Baduell M, Salvado-Salvado B, Valls-Santasusana A, Rosendo- Moreno N, Clofent-Torrento M et al. [Autism, epilepsy and genetics]. Rev Neurol 2008; 46 Suppl 1: S71-77.</p><p>120. Nakakami R. [Genetic factors in disturbed social behavior in children with autism spectrum disorder]. Seishin Shinkeigaku Zasshi 2009; 111(11): 1404-1406.</p><p>121. Nakayama A, Masaki S, Aoki E. [Genetics and epigenetics in autism]. Nihon Shinkei Seishin Yakurigaku Zasshi 2006; 26(5-6): 209-212.</p><p>122. Nan X, Bird A. The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome. Brain Dev 2001; 23 Suppl 1: S32-37.</p><p>92 123. Nicolson R, Szatmari P. Genetic and neurodevelopmental influences in autistic disorder. Can J Psychiatry 2003; 48(8): 526-537.</p><p>124. O'Roak BJ, State MW. Autism genetics: strategies, challenges, and opportunities. Autism Res 2008; 1(1): 4-17.</p><p>125. Peedicayil J, Thangavelu P. Purkinje cell loss in autism may involve epigenetic changes in the gene encoding GAD. Med Hypotheses 2008; 71(6): 978.</p><p>126. Percy AK. The Rett Syndrome: the recent advances in genetic studies in the USA. Brain Dev 1992; 14 Suppl: S104-105.</p><p>127. Percy AK. Genetics of Rett syndrome: properties of the newly discovered gene and pathobiology of the disorder. Curr Opin Pediatr 2000; 12(6): 589-595.</p><p>128. Percy AK. Rett syndrome: clinical correlates of the newly discovered gene. Brain Dev 2001; 23 Suppl 1: S202-205.</p><p>129. Percy AK. Rett syndrome. Current status and new vistas. Neurol Clin 2002; 20(4): 1125- 1141.</p><p>130. Perrot A, Lenoir P, Carmagnat F, Sauvage D. [Genetic factors in autism]. Soins Psychiatr 1992; (140-141): 27-33.</p><p>131. Persico AM, Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006; 29(7): 349-358.</p><p>132. Piggot J, Shirinyan D, Shemmassian S, Vazirian S, Alarcon M. Neural systems approaches to the neurogenetics of autism spectrum disorders. Neuroscience 2009; 164(1): 247-256.</p><p>133. Piven J. The broad autism phenotype: a complementary strategy for molecular genetic studies of autism. Am J Med Genet 2001; 105(1): 34-35.</p><p>134. Purcell AE, Jeon OH, Pevsner J. The abnormal regulation of gene expression in autistic brain tissue. J Autism Dev Disord 2001; 31(6): 545-549.</p><p>135. Qiu Z, Cheng J. The role of calcium-dependent gene expression in autism spectrum disorders: lessons from MeCP2, Ube3a and beyond. Neurosignals 2010; 18(2): 72-81.</p><p>136. Reiss AL, Feinstein C, Rosenbaum KN. Autism and genetic disorders. Schizophr Bull 1986; 12(4): 724-738.</p><p>137. Remschmidt H, Oehler C. [The significance of genetic factors in the etiology of early infantile autism]. Z Kinder Jugendpsychiatr 1990; 18(4): 216-223.</p><p>93 138. Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C et al. Rett syndrome: the complex nature of a monogenic disease. J Mol Med (Berl) 2003; 81(6): 346-354.</p><p>139. Riccardi VM. The Rett syndrome: genetics and the future. Am J Med Genet Suppl 1986; 1: 389-402.</p><p>140. Ritvo ER, Ritvo EC, Brothers AM. Genetic and immunohematologic factors in autism. J Autism Dev Disord 1982; 12(2): 109-114.</p><p>141. Ruggieri V, Arberas C. [Pervasive developmental disorders. Clinical and genetics aspects]. Medicina (B Aires) 2007; 67(6 Pt 1): 569-585.</p><p>142. Rutter M. Genetic studies of autism: from the 1970s into the millennium. J Abnorm Child Psychol 2000; 28(1): 3-14.</p><p>143. Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C et al. Italian Rett database and biobank. Hum Mutat 2007; 28(4): 329-335.</p><p>144. Santangelo SL, Tsatsanis K. What is known about autism: genes, brain, and behavior. Am J Pharmacogenomics 2005; 5(2): 71-92.</p><p>145. Sasaki T. [Genetic factors in Asperger syndrome]. Nihon Rinsho 2007; 65(3): 443-448.</p><p>146. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 2008; 10(4): 301-305.</p><p>147. Schaefer GB, Mendelsohn NJ. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med 2008; 10(1): 4-12.</p><p>148. Schanen C. Rethinking the fate of males with mutations in the gene that causes Rett syndrome. Brain Dev 2001; 23 Suppl 1: S144-146.</p><p>149. Schanen NC. Molecular approaches to the Rett syndrome gene. J Child Neurol 1999; 14(12): 806-814.</p><p>150. Sedlacek Z, Havlovicova M, Hrdlicka M. [Genetics of autism]. Cas Lek Cesk 2002; 141(12): 376-380.</p><p>151. Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 2001; 14(2): 171-176.</p><p>152. Shastry BS. Molecular genetics of Rett syndrome. Neurochem Int 2001; 38(6): 503-508.</p><p>153. Shastry BS. Molecular genetics of autism spectrum disorders. J Hum Genet 2003; 48(10): 495-501.</p><p>94 154. Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr 2003; 15(6): 567-571.</p><p>155. Simonic I, Gericke GS, Lippert M, Schoeman JF. Additional clinical and cytogenetic findings associated with Rett syndrome. Am J Med Genet 1997; 74(3): 331-337.</p><p>156. Simonoff E. Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord 1998; 28(5): 447-456.</p><p>157. Sinzig J, Lehmkuhl G. What do we know about the serotonergic genetic heterogeneity in attention-deficit/hyperactivity and autistic disorders? Psychopathology 2007; 40(5): 329- 337.</p><p>158. Skuse DH. Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res 2000; 47(1): 9-16.</p><p>159. Skuse DH. Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet 2007; 23(8): 387-395.</p><p>160. Slopien A, Rajewski A. [Genetic studies in autistic disorders]. Psychiatr Pol 2000; 34(3): 435-446.</p><p>161. Smalley SL. Genetic influences in autism. Psychiatr Clin North Am 1991; 14(1): 125- 139.</p><p>162. Smalley SL. Autism and tuberous sclerosis. J Autism Dev Disord 1998; 28(5): 407-414.</p><p>163. Smalley SL, Asarnow RF, Spence MA. Autism and genetics. A decade of research. Arch Gen Psychiatry 1988; 45(10): 953-961.</p><p>164. Smith CL, Bolton A, Nguyen G. Genomic and epigenomic instability, fragile sites, schizophrenia and autism. Curr Genomics 2010; 11(6): 447-469.</p><p>165. Solis-Anez E, Delgado-Luengo W, Hernandez ML. [Autism, chromosome 15 and the GAbaergic dysfunction hypothesis]. Invest Clin 2007; 48(4): 529-541.</p><p>166. Solomon M, Hessl D, Chiu S, Hagerman R, Hendren R. A genetic etiology of pervasive developmental disorder guides treatment. Am J Psychiatry 2007; 164(4): 575-580.</p><p>167. Spence MA. The genetics of autism. Curr Opin Pediatr 2001; 13(6): 561-565.</p><p>168. Spence SJ. The genetics of autism. Semin Pediatr Neurol 2004; 11(3): 196-204.</p><p>169. State MW. A surprising METamorphosis: autism genetics finds a common functional variant. Proc Natl Acad Sci U S A 2006; 103(45): 16621-16622. 95 170. State MW. The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron 2010; 68(2): 254-269.</p><p>171. Stoltenberg C, Schjolberg S, Bresnahan M, Hornig M, Hirtz D, Dahl C et al. The Autism Birth Cohort: a paradigm for gene-environment-timing research. Mol Psychiatry 2010; 15(7): 676-680.</p><p>172. Sturt E. Is autism the expression of a recessive gene? Am J Psychiatry 1985; 142(12): 1520-1521.</p><p>173. Sutcliffe JS. Genetics. Insights into the pathogenesis of autism. Science 2008; 321(5886): 208-209.</p><p>174. Sutcliffe JS, Nurmi EL, Lombroso PJ. Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism. J Am Acad Child Adolesc Psychiatry 2003; 42(2): 253-256.</p><p>175. Swackhammer R, Tatum OL. Survey of candidate genes for autism susceptibility. J Assoc Genet Technol 2007; 33(1): 8-16.</p><p>176. Sykes NH, Lamb JA. Autism: the quest for the genes. Expert Rev Mol Med 2007; 9(24): 1-15.</p><p>177. Szatmari P. Heterogeneity and the genetics of autism. J Psychiatry Neurosci 1999; 24(2): 159-165.</p><p>178. Szatmari P, Jones MB. IQ and the genetics of autism. J Child Psychol Psychiatry 1991; 32(6): 897-908.</p><p>179. Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE. Genetics of autism: overview and new directions. J Autism Dev Disord 1998; 28(5): 351-368.</p><p>180. Tabares-Seisdedos R, Rubenstein JL. Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer. Mol Psychiatry 2009; 14(6): 563-589.</p><p>181. Temudo T, Maciel P. [Rett's syndrome. Clinical features and advances in genetics]. Rev Neurol 2002; 34 Suppl 1: S54-58.</p><p>182. Todd RD. Genetic advances in autism hinge on the method of measuring symptoms. Curr Psychiatry Rep 2005; 7(2): 133-137.</p><p>183. Tomas Vila M. [Diagnostic yield in studies of autism. The contribution made by neuroimaging, metabolic tests and genetic studies]. Rev Neurol 2004; 38 Suppl 1: S15- 20. 96 184. Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 2010; 26(8): 363-372.</p><p>185. Torres AR, Maciulis A, Odell D. The association of MHC genes with autism. Front Biosci 2001; 6: D936-943.</p><p>186. Trottier G, Srivastava L, Walker CD. Etiology of infantile autism: a review of recent advances in genetic and neurobiological research. J Psychiatry Neurosci 1999; 24(2): 103-115.</p><p>187. Turner M, Barnby G, Bailey A. Genetic clues to the biological basis of autism. Mol Med Today 2000; 6(6): 238-244.</p><p>188. Vaccarino FM, Grigorenko EL, Smith KM, Stevens HE. Regulation of cerebral cortical size and neuron number by fibroblast growth factors: implications for autism. J Autism Dev Disord 2009; 39(3): 511-520.</p><p>189. van de Lagemaat LN, Grant SG. Genome variation and complexity in the autism spectrum. Neuron 2010; 67(1): 8-10.</p><p>190. Van den Veyver IB, Zoghbi HY. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev 2000; 10(3): 275-279.</p><p>191. Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev 2001; 23 Suppl 1: S147-151.</p><p>192. Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8(2): 82-86.</p><p>193. Veenstra-Vanderweele J, Christian SL, Cook EH, Jr. Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 2004; 5: 379-405.</p><p>194. Veenstra-Vanderweele J, Cook E, Jr., Lombroso PJ. Genetics of childhood disorders: XLVI. Autism, part 5: genetics of autism. J Am Acad Child Adolesc Psychiatry 2003; 42(1): 116-118.</p><p>195. Veenstra-VanderWeele J, Cook EH, Jr. Molecular genetics of autism spectrum disorder. Mol Psychiatry 2004; 9(9): 819-832.</p><p>196. Volkmar FR, Klin A, Pauls D. Nosological and genetic aspects of Asperger syndrome. J Autism Dev Disord 1998; 28(5): 457-463.</p><p>197. Vorsanova SG, Voinova V, Iurov I, Kurinnaia OS, Demidova IA, Iurov Iu B. [Cytogenetic, molecular cytogenetic, clinical and genealogical study of mothers of 97 children with autism: a search for family genetic markers of autistic disorders]. Zh Nevrol Psikhiatr Im S S Korsakova 2009; 109(6): 54-64.</p><p>198. Vorsanova SG, Voinova VY, Yurov IY, Kurinnaya OS, Demidova IA, Yurov YB. Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders. Neurosci Behav Physiol 2010; 40(7): 745-756.</p><p>199. Wahlstrom J. Practical and theoretical considerations concerning the genetics of the Rett syndrome. Brain Dev 1987; 9(5): 466-468.</p><p>200. Wassink TH, Brzustowicz LM, Bartlett CW, Szatmari P. The search for autism disease genes. Ment Retard Dev Disabil Res Rev 2004; 10(4): 272-283.</p><p>201. Wassink TH, Piven J. The molecular genetics of autism. Curr Psychiatry Rep 2000; 2(2): 170-175.</p><p>202. Weaving LS, Ellaway CJ, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42(1): 1-7.</p><p>203. Webb T, Latif F. Rett syndrome and the MECP2 gene. J Med Genet 2001; 38(4): 217- 223.</p><p>204. Wetterberg L. [Mental disease a heritage. New genetic knowledge can reveal "public diseases" such as autism, dyslexia, alcoholism, anorexia, schizophrenia]. Lakartidningen 2000; 97(6): 558-562, 565-557.</p><p>205. Yang MS, Gill M. A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. Int J Dev Neurosci 2007; 25(2): 69-85.</p><p>206. Yardin C, Esclaire F, Laroche C, Terro F, Barthe D, Bonnefont JP et al. Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic- like syndrome? Clin Genet 2002; 61(4): 310-313.</p><p>207. Yirmiya N, Charman T. The prodrome of autism: early behavioral and biological signs, regression, peri- and post-natal development and genetics. J Child Psychol Psychiatry 2010; 51(4): 432-458.</p><p>208. Zafeiriou DI, Ververi A, Vargiami E. Childhood autism and associated comorbidities. Brain Dev 2007; 29(5): 257-272.</p><p>209. Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep 2009; 9(2): 129-136.</p><p>98 210. Zhang JJ, Bao XH. [Research progress of Rett syndrome causing gene MECP2--the structure, function and modulation of MECP2]. Beijing Da Xue Xue Bao 2009; 41(6): 712-715.</p><p>211. Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K et al. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A 2007; 104(31): 12831-12836.</p><p>212. Zhu XW, Pan H, Li MR, Bao XH, Zhang JJ, Wu XR. [Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome]. Zhonghua Er Ke Za Zhi 2009; 47(8): 565-569.</p><p>213. Zoghbi H. Genetic aspects of Rett syndrome. J Child Neurol 1988; 3 Suppl: S76-78.</p><p>Rett syndrome</p><p>1. Abuhatzira L, Makedonski K, Galil YP, Gak E, Ben Zeev B, Razin A et al. Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis. Hum Genet 2005; 118(1): 91-98.</p><p>2. Akbarian S, Chen RZ, Gribnau J, Rasmussen TP, Fong H, Jaenisch R et al. Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol Dis 2001; 8(5): 784-791.</p><p>3. Akefeldt A, Ekman R, Gillberg C, Mansson JE. Cerebrospinal fluid monoamines in Prader-Willi syndrome. Biol Psychiatry 1998; 44(12): 1321-1328.</p><p>4. Akesson HO, Hagberg B, Wahlstrom J. Rett syndrome, classical and atypical: genealogical support for common origin. J Med Genet 1996; 33(9): 764-766.</p><p>5. Akesson HO, Hagberg B, Wahlstrom J. Rett syndrome: presumptive carriers of the gene defect. Sex ratio among their siblings. Eur Child Adolesc Psychiatry 1997; 6 Suppl 1: 101-102.</p><p>6. Akesson HO, Hagberg B, Wahlstrom J, Engerstrom IW. Rett syndrome: a search for gene sources. Am J Med Genet 1992; 42(1): 104-108.</p><p>7. Akesson HO, Wahlstrom J, Engerstrom IW, Hagberg B. Rett syndrome: potential gene sources--phenotypical variability. Clin Genet 1995; 48(4): 169-172.</p><p>8. Alembik Y, Dott B, Stoll C. Rett-like syndrome in fragile X syndrome. Genet Couns 1995; 6(3): 207-210.</p><p>99 9. Alvarez-Nava F, Gonzalez-Ferrer S, Soto M. [Diagnosis and management of patients with sex differentiation disorders: experience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela]. Invest Clin 1998; 39(4): 273-292.</p><p>10. Amano K, Nomura Y, Segawa M, Yamakawa K. R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis. Brain Dev 2001; 23 Suppl 1: S152-156.</p><p>11. Amir R, Dahle EJ, Toriolo D, Zoghbi HY. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. Am J Med Genet 2000; 90(1): 69-71.</p><p>12. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY et al. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 2005; 42(2): e15.</p><p>13. Amir RE, Sutton VR, Van den Veyver IB. Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. J Child Neurol 2005; 20(9): 779-783.</p><p>14. Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000; 47(5): 670-679.</p><p>15. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23(2): 185-188.</p><p>16. Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 2000; 97(2): 147-152.</p><p>17. Anvret M, Johansson IM, Wahlstrom J, Hagberg B. Linkage analysis of the Rett syndrome using human chromosomal specific probes. Brain Dev 1985; 7(3): 361-364.</p><p>18. Anvret M, Wahlstrom J. Rett syndrome: random X chromosome inactivation. Clin Genet 1994; 45(5): 274-275.</p><p>19. Anvret M, Wahlstrom J, Skogsberg P, Hagberg B. Segregation analysis of the X- chromosome in a family with Rett syndrome in two generations. Am J Med Genet 1990; 37(1): 31-35.</p><p>20. Anvret M, Zhang ZP, Hagberg B. Rett syndrome: the bcl-2 gene--a mediator of neurotrophic mechanisms? Neuropediatrics 1994; 25(6): 323-324.</p><p>21. Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J et al. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet 2007; 44(2): 148-152.</p><p>100 22. Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H et al. NTNG1 mutations are a rare cause of Rett syndrome. Am J Med Genet A 2006; 140(7): 691-694.</p><p>23. Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet 2006; 43(5): 451-456.</p><p>24. Archidiacono N, Lerone M, Rocchi M, Anvret M, Ozcelik T, Francke U et al. Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum Genet 1991; 86(6): 604-606.</p><p>25. Archidiacono N, Rett A, Rocchi M, Rolando S, Lugaresi E, Romeo G. Rett syndrome and fragile site in Xp22. Lancet 1985; 2(8466): 1242-1243.</p><p>26. Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83(1): 89-93.</p><p>27. Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I et al. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat 2004; 24(2): 172-177.</p><p>28. Armstrong J, Pineda M, Aibar E, Gean E, Monros E. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol 2001; 50(5): 692.</p><p>29. Armstrong J, Pineda M, Monros E. Mutation analysis of 16S rRNA in patients with Rett syndrome. Pediatr Neurol 2000; 23(1): 85-87.</p><p>30. Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T et al. An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient. Clin Genet 2010; 77(6): 593-597.</p><p>31. Augenstein K, Lane JB, Horton A, Schanen C, Percy AK. Variable phenotypic expression of a MECP2 mutation in a family. J Neurodev Disord 2009; 1(4): 313.</p><p>32. August GJ, Lockhart LH. Familial autism and the fragile-X chromosome. J Autism Dev Disord 1984; 14(2): 197-204.</p><p>33. Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M et al. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 2001; 56(5): 611-617.</p><p>34. Ausio J, Levin DB, De Amorim GV, Bakker S, Macleod PM. Syndromes of disordered chromatin remodeling. Clin Genet 2003; 64(2): 83-95.</p><p>101 35. Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2010; 11(2): 241-249.</p><p>36. Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R et al. The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. Hum Genet 2005; 116(1-2): 91-104.</p><p>37. Ballestar E, Yusufzai TM, Wolffe AP. Effects of Rett syndrome mutations of the methyl- CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry 2000; 39(24): 7100-7106.</p><p>38. Bao XH, Pan H, Song FY, Wu XR. [Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis]. Zhonghua Er Ke Za Zhi 2004; 42(4): 252-255.</p><p>39. Bapat S, Galande S. Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome. Bioessays 2005; 27(7): 676-680.</p><p>40. Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E et al. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clin Genet 2006; 69(4): 319-326.</p><p>41. Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008; 70(11): 868-875.</p><p>42. Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P et al. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet 2010; 47(4): 242- 248.</p><p>43. Beck DJ, Brubaker RR. Mutagenic properties of cis-plantinum(II)diammino-dichloride in Escherichia coli. Mutat Res 1975; 27(2): 181-189.</p><p>44. Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J et al. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy. Hum Mutat 2001; 18(3): 251-252.</p><p>45. Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C et al. Spectrum of MECP2 mutations in Rett syndrome. Genet Test 2002; 6(1): 1-6.</p><p>46. Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F et al. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet 2005; 13(8): 921-927.</p><p>102 47. Borghgraef M, Fryns JP, Dielkens A, Pyck K, Van den Berghe H. Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients. Clin Genet 1987; 32(3): 179-186.</p><p>48. Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J et al. Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications. J Med Genet 2001; 38(12): 867-871.</p><p>49. Bourdon V, Philippe C, Grandemenge A, Reichwald K, Jonveaux P. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Ann Genet 2001; 44(4): 191-194.</p><p>50. Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet 2001; 108(1): 43-50.</p><p>51. Bourdon V, Philippe C, Martin D, Verloes A, Grandemenge A, Jonveaux P. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. Mol Diagn 2003; 7(1): 3-7.</p><p>52. Brodkin ES. Social behavior phenotypes in fragile X syndrome, autism, and the Fmr1 knockout mouse: theoretical comment on McNaughton et al. (2008). Behav Neurosci 2008; 122(2): 483-489.</p><p>53. Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B et al. EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome. Clin Neurophysiol 2010; 121(5): 652-657.</p><p>54. Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT et al. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clin Neurophysiol 2008; 119(11): 2455-2458.</p><p>55. Buschdorf JP, Stratling WH. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. J Mol Med (Berl) 2004; 82(2): 135-143.</p><p>56. Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet 2000; 67(6): 1428- 1436.</p><p>57. Buyse IM, Roa BB. Denaturing high-performance liquid chromatography and sequence analyses for MECP2 mutations in Rett syndrome. Methods Mol Biol 2003; 217: 119-130.</p><p>58. Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J et al. A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene. Bratisl Lek Listy 2004; 105(9): 299-302. 103 59. Camus P, Abbadi N, Perrier MC, Chery M, Gilgenkrantz S. X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe. Hum Genet 1996; 97(2): 247- 250.</p><p>60. Carvalho CM, Camargos W, Pena SD. Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation. Clin Chem 2006; 52(3): 539-540.</p><p>61. Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ. Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. J Child Neurol 2004; 19(7): 503-508.</p><p>62. Chae JH, Hwang YS, Kim KJ. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 2002; 17(1): 33-36.</p><p>63. Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP et al. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet 2005; 13(10): 1121-1130.</p><p>64. Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000; 9(7): 1119-1129.</p><p>65. Chunshu Y, Endoh K, Soutome M, Kawamura R, Kubota T. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. Clin Genet 2006; 70(6): 530-531.</p><p>66. Clarke A, Gardner-Medwin D, Richardson J, McGann A, Bonham JR, Carpenter KH et al. Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome. Brain Dev 1990; 12(1): 119-124.</p><p>67. Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V et al. Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiol Dis 2001; 8(5): 847-865.</p><p>68. Coleman M, Naidu S, Murphy M, Pines M, Bias W. A set of monozygotic twins with Rett syndrome. Brain Dev 1987; 9(5): 475-478.</p><p>69. Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M et al. Mutation analysis of the MECP2 gene in patients with Rett syndrome. Am J Med Genet A 2003; 117A(2): 184-187.</p><p>70. Cummings CJ, Dahle EJ, Zoghbi HY. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Am J Med Genet 1998; 78(2): 176-178.</p><p>104 71. Curtis AR, Headland S, Lindsay S, Thomas NS, Boye E, Kamakari S et al. X chromosome linkage studies in familial Rett syndrome. Hum Genet 1993; 90(5): 551- 555.</p><p>72. Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA et al. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain Dev 2007; 29(1): 47-50.</p><p>73. De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M et al. Preserved speech variant is allelic of classic Rett syndrome. Eur J Hum Genet 2000; 8(5): 325-330.</p><p>74. Delgado IJ, Kim DS, Thatcher KN, LaSalle JM, Van den Veyver IB. Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients. BMC Med Genet 2006; 7: 61.</p><p>75. Delobel B, Delannoy V, Pini G, Zapella M, Tardieu M, Vallee L et al. Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations. Am J Med Genet 1998; 80(3): 273-280.</p><p>76. Deng V, Matagne V, Banine F, Frerking M, Ohliger P, Budden S et al. FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2- null mice. Hum Mol Genet 2007; 16(6): 640-650.</p><p>77. Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V. [Clinical and molecular genetic findings in four girls with Rett syndrome]. Klin Padiatr 2002; 214(5): 291-294.</p><p>78. Djarmati A, Dobricic V, Kecmanovic M, Marsh P, Jancic-Stefanovic J, Klein C et al. MECP2 mutations in Serbian Rett syndrome patients. Acta Neurol Scand 2007; 116(6): 413-419.</p><p>79. Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet 2000; 9(16): 2365-2375.</p><p>80. Dykens EM. Psychopathology in children with intellectual disability. J Child Psychol Psychiatry 2000; 41(4): 407-417.</p><p>81. Dykens EM. Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome? J Child Psychol Psychiatry 2002; 43(3): 343-352.</p><p>82. Ellaway C, Buchholz T, Smith A, Leonard H, Christodoulou J. Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. J Child Neurol 1998; 13(9): 448-451.</p><p>105 83. Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clin Dysmorphol 2001; 10(3): 185-188.</p><p>84. Ellaway CJ, McQuade LR, Christodoulou J. Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome. J Inherit Metab Dis 1999; 22(8): 946-947.</p><p>85. Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M et al. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 1992; 50(2): 278-287.</p><p>86. Ellison KA, Roth EJ, McCabe ER, Chinault AC, Zoghbi HY. Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet 1993; 47(7): 1124-1134.</p><p>87. Erlandson A, Hallberg B, Hagberg B, Wahlstrom J, Martinsson T. MECP2 mutation screening in Swedish classical Rett syndrome females. Eur Child Adolesc Psychiatry 2001; 10(2): 117-121.</p><p>88. Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M, Wahlstrom J. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test 2003; 7(4): 329-332.</p><p>89. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 2005; 13(10): 1113-1120.</p><p>90. Evans JC, Archer HL, Whatley SD, Clarke A. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clin Genet 2006; 70(4): 336-338.</p><p>91. Evans JC, Archer HL, Whatley SD, Kerr A, Clarke A, Butler R. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. Eur J Hum Genet 2005; 13(1): 124-126.</p><p>92. Fehr S, Downs J, Bebbington A, Leonard H. Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome. Am J Med Genet A 2010; 152A(10): 2535-2542.</p><p>93. Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F. A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome. Genet Test Mol Biomarkers 2009; 13(1): 109-113.</p><p>94. Fendri-Kriaa N, Mkaouar-Rebai E, Moalla D, Belguith N, Louhichi N, Zemni R et al. Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. J Child Neurol 2010; 25(8): 1042-1046.</p><p>106 95. Ferlini A, Ansaloni L, Nobile C, Forabosco A. Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe. Brain Dev 1990; 12(1): 136-139.</p><p>96. Ferrari P. [Multidisciplinary approach to autism and early childhood psychoses]. Neuropsychiatr Enfance Adolesc 1983; 31(5-6): 225-237.</p><p>97. Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006; 79(5): 965-972.</p><p>98. Fichou Y, Nectoux J, Bahi-Buisson N, Rosas-Vargas H, Girard B, Chelly J et al. The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform. Neurogenetics 2009; 10(2): 127-133.</p><p>99. Fong CB, Thong MK, Sam CK, Mohamed Noor MN, Ariffin R. MECP2 mutations in Malaysian Rett syndrome patients. Singapore Med J 2009; 50(5): 529-533.</p><p>100. Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R et al. The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Hum Mol Genet 2010; 19(16): 3114-3123.</p><p>101. Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I et al. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. Brain Dev 2005; 27(3): 211-217.</p><p>102. Gamerdinger U, Eggermann T, Schubert R, Schwanitz G, Kreiss-Nachtsheim M. Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years. Am J Med Genet A 2008; 146A(9): 1180-1184.</p><p>103. Gartler SM, Varadarajan KR, Luo P, Canfield TK, Traynor J, Francke U et al. Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins. BMC Biol 2004; 2: 21.</p><p>104. Giampietro PF, Schowalter DB, Merchant S, Campbell LR, Swink T, Roa BB. Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. Childs Nerv Syst 2006; 22(3): 320-324.</p><p>105. Gibson JH, Williamson SL, Arbuckle S, Christodoulou J. X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. Brain Dev 2005; 27(4): 266-270.</p><p>106. Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T et al. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. J Med Genet 2003; 40(5): 380-384.</p><p>107 107. Gillberg C, Wahlstrom J, Hagberg B. A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome. Brain Dev 1985; 7(3): 365-367.</p><p>108. Girard M, Couvert P, Carrie A, Tardieu M, Chelly J, Beldjord C et al. Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet 2001; 9(3): 231-236.</p><p>109. Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S et al. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. Brain Dev 2001; 23 Suppl 1: S242-245.</p><p>110. Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO et al. Epilepsy and the natural history of Rett syndrome. Neurology 2010; 74(11): 909-912.</p><p>111. Gomot M, Gendrot C, Verloes A, Raynaud M, David A, Yntema HG et al. MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A 2003; 123A(2): 129-139.</p><p>112. Gordon K, Siu VM, Sergovich F, Jung J. 18q-mosaicism associated with Rett syndrome phenotype. Am J Med Genet 1993; 46(2): 142-144.</p><p>113. Gustavsson P, Kimber E, Wahlstrom J, Anneren G. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). Am J Med Genet 1999; 82(4): 348-351.</p><p>114. Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG et al. A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet 2006; 14(12): 1313- 1316.</p><p>115. Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M. Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat 2002; 20(1): 75-76.</p><p>116. Haas RH, Nasirian F, Hua X, Nakano K, Hennessy M. Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies. Neuropediatrics 1995; 26(2): 95-99.</p><p>117. Hammer S, Dorrani N, Hartiala J, Stein S, Schanen NC. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. Am J Med Genet A 2003; 122A(3): 223-226.</p><p>118. Hampson K, Woods CG, Latif F, Webb T. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J Med Genet 2000; 37(8): 610-612.</p><p>119. Hanefeld F, Hanefeld U, Wilichowski E, Schmidtke J. Rett syndrome--search for genetic markers. Am J Med Genet Suppl 1986; 1: 377-382. 108 120. Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K et al. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet 2007; 15(12): 1218-1229.</p><p>121. Hebebrand J, Warnke A, Remschmidt H. [Significant progress in the genetic origin of Martin-Bell syndrome including diagnostic consequences]. Z Kinder Jugendpsychiatr 1992; 20(3): 197-202.</p><p>122. Heidary G, Hampton LL, Schanen NC, Rivkin MJ, Darras BT, Battey J et al. Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. Am J Med Genet 1998; 78(2): 173-175.</p><p>123. Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 2002; 8(2): 99-105.</p><p>124. Hofferbert S, Schanen NC, Budden SS, Francke U. Is Rett syndrome caused by a triplet repeat expansion? Neuropediatrics 1997; 28(3): 179-183.</p><p>125. Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 2005; 37(1): 31- 40.</p><p>126. Horska A, Farage L, Bibat G, Nagae LM, Kaufmann WE, Barker PB et al. Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. Ann Neurol 2009; 65(1): 90-97.</p><p>127. Hung AY, Futai K, Sala C, Valtschanoff JG, Ryu J, Woodworth MA et al. Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J Neurosci 2008; 28(7): 1697-1708.</p><p>128. Hung CC, Yeh JI, Fang JS, Chen CH. No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan. Psychiatry Res 2003; 119(1-2): 163-166.</p><p>129. Huppke P, Bohlander S, Kramer N, Laccone F, Hanefeld F. Altered methylation pattern of the G6 PD promoter in Rett syndrome. Neuropediatrics 2002; 33(2): 105-108.</p><p>130. Huppke P, Held M, Hanefeld F, Engel W, Laccone F. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002; 33(2): 63-68.</p><p>131. Huppke P, Kohler K, Laccone F, Hanefeld F. Indication for genetic testing: a checklist for Rett syndrome. J Pediatr 2003; 142(3): 332-335.</p><p>109 132. Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000; 9(9): 1369- 1375.</p><p>133. Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gartner J. Very mild cases of Rett syndrome with skewed X inactivation. J Med Genet 2006; 43(10): 814-816.</p><p>134. Huppke P, Ohlenbusch A, Brendel C, Laccone F, Gartner J. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Am J Med Genet A 2005; 137(2): 136-138.</p><p>135. Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T et al. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain Dev 2001; 23(4): 212- 215.</p><p>136. Ishii T, Makita Y, Ogawa A, Amamiya S, Yamamoto M, Miyamoto A et al. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain Dev 2001; 23 Suppl 1: S161-164.</p><p>137. Itaba-Matsumoto N, Maegawa S, Yamagata H, Kondo I, Oshimura M, Nanba E. Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome. Brain Dev 2007; 29(8): 491-495.</p><p>138. Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M et al. Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains. J Neuropathol Exp Neurol 2007; 66(2): 117-123.</p><p>139. Iurov I, Vorsanova SG, Voinova-Ulas V, Villard L, Demidova IA, Giunti L et al. [Epigenetic study of Rett's syndrome as an adequate model for autistic disorders]. Zh Nevrol Psikhiatr Im S S Korsakova 2005; 105(7): 4-11.</p><p>140. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet 2009; 17(12): 1577-1581.</p><p>141. Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J et al. p.R270X MECP2 mutation and mortality in Rett syndrome. Eur J Hum Genet 2005; 13(11): 1235- 1238.</p><p>142. Jiang SL, Bao XH, Song FY, Pan H, Li MR, Wu XR. [X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome]. Zhonghua Er Ke Za Zhi 2006; 44(9): 648-652.</p><p>143. Jones W, Bellugi U, Lai Z, Chiles M, Reilly J, Lincoln A et al. II. Hypersociability in Williams Syndrome. J Cogn Neurosci 2000; 12 Suppl 1: 30-46. 110 144. Journel H, Melki J, Turleau C, Munnich A, de Grouchy J. Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. Am J Med Genet 1990; 35(1): 142-147.</p><p>145. Kammoun F, de Roux N, Boespflug-Tanguy O, Vallee L, Seng R, Tardieu M et al. Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. J Med Genet 2004; 41(6): e85.</p><p>146. Karall D, Haberlandt E, Scholl-Burgi S, Baumgartner S, Naudo M, Martorell L. Homozygosity for MECP2 gene in a girl with classical Rett syndrome. Eur J Med Genet 2007; 50(6): 465-468.</p><p>147. Karteszi J, Hollody K, Bene J, Morava E, Hadzsiev K, Czako M et al. [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]. Orv Hetil 2004; 145(17): 909-911.</p><p>148. Karteszi J, Hollody K, Bene J, Morava E, Hadzsiev K, Czako M et al. Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients. Am J Med Genet A 2004; 131(1): 106.</p><p>149. Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G et al. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation. Brain Dev 2005; 27(5): 331-339.</p><p>150. Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V et al. Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. Genet Test Mol Biomarkers 2009; 13(2): 277-280.</p><p>151. Killian W. On the genetics of Rett syndrome: analysis of family and pedigree data. Am J Med Genet Suppl 1986; 1: 369-376.</p><p>152. Kim IJ, Kim YJ, Son BH, Nam SO, Kang HC, Kim HD et al. Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. Exp Mol Med 2006; 38(2): 119-125.</p><p>153. Kim SJ, Cook EH, Jr. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. Hum Mutat 2000; 15(4): 382-383.</p><p>154. Kishi N, Macklis JD. Dissecting MECP2 function in the central nervous system. J Child Neurol 2005; 20(9): 753-759.</p><p>155. Kishi N, Macklis JD. MeCP2 functions largely cell-autonomously, but also non-cell- autonomously, in neuronal maturation and dendritic arborization of cortical pyramidal neurons. Exp Neurol 2010; 222(1): 51-58. 111 156. Kondo I, Yamagata H. [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome]. No To Hattatsu 2002; 34(3): 219-223.</p><p>157. Kondo M, Gray LJ, Pelka GJ, Christodoulou J, Tam PP, Hannan AJ. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome-- Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci 2008; 27(12): 3342- 3350.</p><p>158. Kormann-Bortolotto MH, Webb T. Alterations in replication timing of X-chromosome bands in Rett syndrome. J Intellect Disabil Res 1995; 39 ( Pt 2): 91-96.</p><p>159. Kormann-Bortolotto MH, Woods CG, Green SH, Webb T. X-inactivation in girls with Rett syndrome. Clin Genet 1992; 42(6): 296-301.</p><p>160. Krepischi AC, Kok F, Otto PG. X chromosome-inactivation patterns in patients with Rett syndrome. Hum Genet 1998; 102(3): 319-321.</p><p>161. Kriaucionis S, Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 2004; 32(5): 1818-1823.</p><p>162. Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Dragich J et al. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Brain Dev 2001; 23 Suppl 1: S165-173.</p><p>163. Kumar A, Kamboj S, Malone BM, Kudo S, Twiss JL, Czymmek KJ et al. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J Cell Sci 2008; 121(Pt 7): 1128-1137.</p><p>164. Laccone F, Huppke P, Hanefeld F, Meins M. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum Mutat 2001; 17(3): 183-190.</p><p>165. Laccone F, Junemann I, Whatley S, Morgan R, Butler R, Huppke P et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 2004; 23(3): 234-244.</p><p>166. Lane R, He Y, Morris C, Leverenz JB, Emre M, Ballard C. BuChE-K and APOE epsilon4 allele frequencies in Lewy body dementias, and influence of genotype and hyperhomocysteinemia on cognitive decline. Mov Disord 2009; 24(3): 392-400.</p><p>167. Langford PR, Loynds BM, Kroll JS. Cloning and molecular characterization of Cu,Zn superoxide dismutase from Actinobacillus pleuropneumoniae. Infect Immun 1996; 64(12): 5035-5041.</p><p>112 168. Largo RH, Schinzel A. Developmental and behavioural disturbances in 13 boys with fragile X syndrome. Eur J Pediatr 1985; 143(4): 269-275.</p><p>169. Larimore JL, Chapleau CA, Kudo S, Theibert A, Percy AK, Pozzo-Miller L. Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett- associated MECP2 mutations. Neurobiol Dis 2009; 34(2): 199-211.</p><p>170. LaSalle JM, Goldstine J, Balmer D, Greco CM. Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum Mol Genet 2001; 10(17): 1729-1740.</p><p>171. Lebo RV, Ikuta T, Milunsky JM, Milunsky A. Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region. Clin Genet 2001; 59(6): 406-417.</p><p>172. Ledbetter DH. Cytogenetic technology--genotype and phenotype. N Engl J Med 2008; 359(16): 1728-1730.</p><p>173. Ledenev BA, Shevchenko Iu S. [Clinical picture and dynamics of mosaic variants of schizoid (autistic) psychopathy in childhood and adolescence]. Zh Nevropatol Psikhiatr Im S S Korsakova 1983; 83(10): 1526-1533.</p><p>174. Lee SS, Wan M, Francke U. Spectrum of MECP2 mutations in Rett syndrome. Brain Dev 2001; 23 Suppl 1: S138-143.</p><p>175. Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M et al. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet 2003; 40(5): e52.</p><p>176. Leonard H, Fyfe S, Dye D, Hockey A, Christodoulou J. Family data in Rett syndrome: association with other genetic disorders. J Paediatr Child Health 2000; 36(4): 336-339.</p><p>177. Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L et al. Genotype and early development in Rett syndrome: the value of international data. Brain Dev 2005; 27 Suppl 1: S59-S68.</p><p>178. Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, Raffaele LS et al. Occurrence of Rett syndrome in boys. J Child Neurol 2001; 16(5): 333-338.</p><p>179. Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerstrom I et al. Trisomy 21 and Rett syndrome: a double burden. J Paediatr Child Health 2004; 40(7): 406-409.</p><p>180. Levenson D. The AJMG SEQUENCE: Decoding news and trends for the medical genetics community. Too much? Not enough? Am J Med Genet A 2010; 152A(7): fmvii- fmviii. 113 181. Levin ED, Aschner M, Heberlein U, Ruden D, Welsh-Bohmer KA, Bartlett S et al. Genetic aspects of behavioral neurotoxicology. Neurotoxicology 2009; 30(5): 741-753.</p><p>182. Levin JH, Kaler SG. Non-random maternal X-chromosome inactivation associated with PHACES. Clin Genet 2007; 72(4): 345-350.</p><p>183. Levin R, Heresco-Levy U, Bachner-Melman R, Israel S, Shalev I, Ebstein RP. Association between arginine vasopressin 1a receptor (AVPR1a) promoter region polymorphisms and prepulse inhibition. Psychoneuroendocrinology 2009; 34(6): 901- 908.</p><p>184. Lewis JC, Thomas HV, Murphy KC, Sampson JR. Genotype and psychological phenotype in tuberous sclerosis. J Med Genet 2004; 41(3): 203-207.</p><p>185. Lewis KE, Lubetsky MJ, Wenger SL, Steele MW. Chromosomal abnormalities in a psychiatric population. Am J Med Genet 1995; 60(1): 53-54.</p><p>186. Lewis M, Kim SJ. The pathophysiology of restricted repetitive behavior. J Neurodev Disord 2009; 1(2): 114-132.</p><p>187. Lewis ME. HotSpots. Clin Genet 2002; 61(1): 7-12.</p><p>188. Lewis MH. Environmental complexity and central nervous system development and function. Ment Retard Dev Disabil Res Rev 2004; 10(2): 91-95.</p><p>189. Li MR, Pan H, Bao XH, Cao GN, Wu XR. [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. Zhonghua Er Ke Za Zhi 2007; 45(8): 579-582.</p><p>190. Li MR, Pan H, Bao XH, Zhang YZ, Jiang SL, Wu XR. [MECP2 gene mutations in twenty-six cases with atypical Rett syndrome]. Zhonghua Er Ke Za Zhi 2006; 44(4): 285- 288.</p><p>191. Li MR, Pan H, Bao XH, Zhang YZ, Wu XR. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet 2007; 52(1): 38-47.</p><p>192. Li MR, Pan H, Bao XH, Zhu XW, Cao GN, Zhang YZ et al. [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. Zhonghua Er Ke Za Zhi 2009; 47(2): 124-128.</p><p>193. Li MR, Pan H, Bao XH, Zhu XW, Cao GN, Zhang YZ et al. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. Zhonghua Yi Xue Za Zhi 2009; 89(4): 224-229.</p><p>114 194. Lima FT, Brunoni D, Schwartzman JS, Pozzi MC, Kok F, Juliano Y et al. Genotype- phenotype correlation in Brazillian Rett syndrome patients. Arq Neuropsiquiatr 2009; 67(3A): 577-584.</p><p>195. Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C et al. Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements. Eur J Hum Genet 2004; 12(8): 682-685.</p><p>196. Lundvall M, Samuelsson L, Kyllerman M. Male Rett phenotypes in T158M and R294X MeCP2-mutations. Neuropediatrics 2006; 37(5): 296-301.</p><p>197. Maiwald R, Bonte A, Jung H, Bitter P, Storm Z, Laccone F et al. De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. Neurogenetics 2002; 4(2): 107- 108.</p><p>198. Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigo R et al. Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Hum Mutat 2009; 30(9): E866-879.</p><p>199. Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE et al. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features. Clin Genet 2010; 78(2): 175-180.</p><p>200. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14(14): 1935-1946.</p><p>201. Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I et al. Germline mosaicism in Rett syndrome identified by prenatal diagnosis. Clin Genet 2005; 67(3): 258-260.</p><p>202. Martinho PS, Otto PG, Kok F, Diament A, Marques-Dias MJ, Gonzalez CH. In search of a genetic basis for the Rett syndrome. Hum Genet 1990; 86(2): 131-134.</p><p>203. Masuyama T, Matsuo M, Jing JJ, Tabara Y, Kitsuki K, Yamagata H et al. Classic Rett syndrome in a boy with R133C mutation of MECP2. Brain Dev 2005; 27(6): 439-442.</p><p>204. Matijevic T, Knezevic J, Barisic I, Resic B, Culic V, Pavelic J. The MECP2 gene mutation screening in Rett syndrome patients from Croatia. Ann N Y Acad Sci 2006; 1091: 225-232.</p><p>205. Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 2005; 42(2): e12.</p><p>115 206. Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P et al. A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 2000; 67(4): 982-985.</p><p>207. Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R et al. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet 2009; 52(2-3): 148-152.</p><p>208. Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi- Buisson N et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 2010; 47(1): 49-53.</p><p>209. Migeon BR, Dunn MA, Thomas G, Schmeckpeper BJ, Naidu S. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet 1995; 56(3): 647-653.</p><p>210. Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D. Another patient with MECP2 mutation without classic Rett syndrome phenotype. Pediatr Neurol 2005; 32(5): 355-357.</p><p>211. Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Mutation analysis in Rett syndrome. Genet Test 2001; 5(4): 321-325.</p><p>212. Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004; 36(4): 339-341.</p><p>213. Monnerat LS, Moreira Ados S, Alves MC, Bonvicino CR, Vargas FR. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain Dev 2010; 32(10): 843-848.</p><p>214. Monros E, Armstrong J, Aibar E, Poo P, Canos I, Pineda M. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 2001; 23 Suppl 1: S251-253.</p><p>215. Moog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood- Lenssen AM et al. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol 2003; 7(1): 5-12.</p><p>216. Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV et al. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients. Brain Dev 2006; 28(5): 305-310.</p><p>217. Moore JW, Tuck-Muller CM, Murphy M, Naidu S, Thomas GH. Chromosome studies in 10 patients with the Rett syndrome. Am J Med Genet Suppl 1986; 1: 345-354.</p><p>218. Narayanan V, Olinsky S, Dahle E, Naidu S, Zoghbi HY. Mutation analysis of the M6b gene in patients with Rett syndrome. Am J Med Genet 1998; 78(2): 165-168. 116 219. Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, Rosas H et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008; 70(22 Pt 2): 2145-2151.</p><p>220. Nectoux J, Fichou Y, Rosas-Vargas H, Cagnard N, Bahi-Buisson N, Nusbaum P et al. Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. J Cell Mol Med 2010; 14(7): 1962- 1974.</p><p>221. Nectoux J, Girard B, Bahi-Buisson N, Prieur F, Afenjar A, Rosas-Vargas H et al. Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy. Pediatr Neurol 2007; 37(4): 270-274.</p><p>222. Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Maternal origin of a novel C- terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 2006; 70(1): 29-33.</p><p>223. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70(16): 1313-1321.</p><p>224. Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML et al. DHPLC analysis of the MECP2 gene in Italian Rett patients. Hum Mutat 2001; 18(2): 132-140.</p><p>225. Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet 2001; 9(3): 178-184.</p><p>226. Nielsen JB, Ravn K, Schwartz M. A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. Brain Dev 2001; 23 Suppl 1: S230-232.</p><p>227. Nikitina T, Ghosh RP, Horowitz-Scherer RA, Hansen JC, Grigoryev SA, Woodcock CL. MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome. J Biol Chem 2007; 282(38): 28237- 28245.</p><p>228. Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I et al. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J Med Genet 2000; 37(8): 608-610.</p><p>229. Pan H, Li MR, Nelson P, Bao XH, Wu XR, Yu S. Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. Clin Genet 2006; 70(5): 418-419. 117 230. Pan H, Wang Y, Meng H, Bao X, Zhang Y, Shen Y et al. [Mutational analysis of MECP2 gene in Rett syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002; 19(4): 276-280.</p><p>231. Pan H, Wang YP, Bao XH, Meng HD, Zhang Y, Wu XR et al. MECP2 gene mutation analysis in Chinese patients with Rett syndrome. Eur J Hum Genet 2002; 10(8): 484-486.</p><p>232. Panasiuk B, Midro AT, Zadrozna-Tolwinska B. Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother. Clin Genet 1997; 52(2): 120-125.</p><p>233. Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I et al. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett- like features. Am J Med Genet A 2008; 146A(15): 1994-1998.</p><p>234. Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M et al. Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation. J Child Neurol 2009; 24(6): 772-774.</p><p>235. Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M et al. Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. J Med Genet 2006; 43(12): e56.</p><p>236. Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F et al. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet 2010; 47(1): 59-65.</p><p>237. Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L et al. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. Eur J Med Genet 2006; 49(1): 9-18.</p><p>238. Popescu AC, Sidorova E, Zhang G, Eubanks JH. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro. J Neurosci Res 2010; 88(11): 2316-2324.</p><p>239. Pruissen DM, Sinke RJ, Terhal PA, Beemer FA, Peters AC. [Developmental disorder in girls due to Rett syndrome]. Ned Tijdschr Geneeskd 2003; 147(32): 1560-1563.</p><p>240. Qi Y, Wu X, Tang J, Bao X. [Computerized ribosomal RNA secondary structure modeling of mutants found in Rett syndrome patients and their mothers]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 1999; 16(3): 153-155.</p><p>118 241. Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V et al. Deleterious mutations in exon 1 of MECP2 in Rett syndrome. Eur J Med Genet 2006; 49(4): 313-322.</p><p>242. Raizis AM, Saleem M, MacKay R, George PM. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. N Z Med J 2009; 122(1296): 21-28.</p><p>243. Ravn K, Nielsen JB, Schwartz M. Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. Clin Genet 2005; 67(6): 532-533.</p><p>244. Rivkin MJ, Ye Z, Mannheim GB, Darras BT. A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. Brain Dev 1992; 14(4): 273-275.</p><p>245. Robertson L, Hall SE, Jacoby P, Ellaway C, de Klerk N, Leonard H. The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(2): 177-183.</p><p>246. Romeo G, Archidiacono N, Ferlini A, Rocchi M. Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations. Am J Med Genet Suppl 1986; 1: 355-359.</p><p>247. Rosenberg C, Wouters CH, Szuhai K, Dorland R, Pearson P, Poll-The BT et al. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease. Eur J Hum Genet 2001; 9(3): 171-177.</p><p>248. Rosipal R, Zeman J, Hadac J, Misovicova N, Nevsimalova S, Martasek P. [Analysis of the most frequent mutations in girls with Rett syndrome]. Cas Lek Cesk 2001; 140(15): 473-476.</p><p>249. Rosser LG, McKee S, Millar DS, Archer H, Hughes J, Butler R et al. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene. Genomic Med 2008; 2(3-4): 77-81.</p><p>250. Salomao Schwartzman J, Zatz M, dos Reis Vasquez L, Ribeiro Gomes R, Koiffmann CP, Fridman C et al. Rett syndrome in a boy with a 47,XXY karyotype. Am J Hum Genet 1999; 64(6): 1781-1785.</p><p>251. Santos M, Temudo T, Kay T, Carrilho I, Medeira A, Cabral H et al. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients. J Child Neurol 2009; 24(1): 49-55.</p><p>252. Santos M, Yan J, Temudo T, Oliveira G, Vieira JP, Fen J et al. Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. Dis Markers 2008; 24(6): 319-324. 119 253. Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G et al. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. Am J Med Genet A 2009; 149A(2): 232-236.</p><p>254. Saunders CJ, Friez MJ, Patterson M, Nzabi M, Zhao W, Bi C. Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome. Genet Test Mol Biomarkers 2010; 14(2): 241-247.</p><p>255. Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A 2009; 149A(5): 1019-1023.</p><p>256. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42(2): 103-107.</p><p>257. Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E et al. MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet A 2007; 143A(23): 2775-2784.</p><p>258. Schanen C, Francke U. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Am J Hum Genet 1998; 63(1): 267-269.</p><p>259. Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A 2004; 126A(2): 129-140.</p><p>260. Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 1997; 61(3): 634-641.</p><p>261. Schirmbeck F, Georgi A, Strohmaier J, Schmael C, Boesshenz KV, Muhleisen TW et al. Brief report: no association between premorbid adjustment in adult-onset schizophrenia and genetic variation in Dysbindin. J Autism Dev Disord 2008; 38(10): 1977-1981.</p><p>262. Schollen E, Smeets E, Deflem E, Fryns JP, Matthijs G. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mutat 2003; 22(2): 116-120.</p><p>263. Schork NJ, Greenwood TA. Inherent bias toward the null hypothesis in conventional multipoint nonparametric linkage analysis. Am J Hum Genet 2004; 74(2): 306-316.</p><p>120 264. Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 2001; 32(3): 162-164.</p><p>265. Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet 2002; 111(2): 164-168.</p><p>266. Shapiro JR, Bibat G, Hiremath G, Blue ME, Hundalani S, Yablonski T et al. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. Pediatr Res 2010; 68(5): 446-451.</p><p>267. Shi J, Shibayama A, Liu Q, Nguyen VQ, Feng J, Santos M et al. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). Hum Mutat 2005; 25(5): 505.</p><p>268. Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP. Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998; 63(5): 1552-1558.</p><p>269. Smeets E, Schollen E, Moog U, Matthijs G, Herbergs J, Smeets H et al. Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet A 2003; 122A(3): 227-233.</p><p>270. Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E et al. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 2005; 132A(2): 117-120.</p><p>271. Smith RG, Kember RL, Mill J, Fernandes C, Schalkwyk LC, Buxbaum JD et al. Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. PLoS One 2009; 4(12): e8456.</p><p>272. Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L et al. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. Am J Med Genet A 2009; 149A(4): 722-725.</p><p>273. Stachon A, Assumpcao FB, Jr., Raskin S. Rett syndrome: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 2007; 65(1): 36-40.</p><p>274. Stamm LV, Walker RL, Read DH. Genetic diversity of bovine ulcerative mammary dermatitis-associated Treponema. Vet Microbiol 2009; 136(1-2): 192-196.</p><p>275. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell 2003; 12(2): 425-435.</p><p>121 276. Sun G, Yan J, Noltner K, Feng J, Li H, Sarkis DA et al. SNPs in human miRNA genes affect biogenesis and function. RNA 2009; 15(9): 1640-1651.</p><p>277. Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A et al. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Clin Genet 2008; 73(3): 257-261.</p><p>278. Tang J, Qi Y, Bao X. [Mutation analysis of mitochondrial DNA of children with Rett syndrome]. Zhonghua Yi Xue Za Zhi 1996; 76(9): 684-687.</p><p>279. Tang J, Qi Y, Bao XH, Wu XR. Mutational analysis of mitochondrial DNA of children with Rett syndrome. Pediatr Neurol 1997; 17(4): 327-330.</p><p>280. Tariverdian G. Follow-up of monozygotic twins concordant for the Rett syndrome. Brain Dev 1990; 12(1): 125-127.</p><p>281. Tariverdian G, Kantner G, Vogel F. A monozygotic twin pair with Rett syndrome. Hum Genet 1987; 75(1): 88-90.</p><p>282. Telvi L, Leboyer M, Chiron C, Feingold J, Ponsot G. Is Rett syndrome a chromosome breakage syndrome? Am J Med Genet 1994; 51(4): 602-605.</p><p>283. Temple CM. Developmental and acquired dyslexias. Cortex 2006; 42(6): 898-910.</p><p>284. Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A et al. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. Neurology 2007; 68(15): 1183-1187.</p><p>285. Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A et al. Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Mov Disord 2008; 23(10): 1384-1390.</p><p>286. Thony B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J 2000; 347 Pt 1: 1-16.</p><p>287. Topcu M, Akyerli C, Sayi A, Toruner GA, Kocoglu SR, Cimbis M et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 2002; 10(1): 77-81.</p><p>288. Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001; 68(5): 1093-1101.</p><p>289. Traynor J, Agarwal P, Lazzeroni L, Francke U. Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet 2002; 3: 12. 122 290. Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML et al. MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. Brain Dev 2001; 23 Suppl 1: S246-250.</p><p>291. Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E et al. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. J Mol Med (Berl) 2001; 78(11): 648-655.</p><p>292. Van den Veyver IB, Subramanian S, Zoghbi HY. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet 1998; 78(2): 179-181.</p><p>293. Venancio M, Santos M, Pereira SA, Maciel P, Saraiva JM. An explanation for another familial case of Rett syndrome: maternal germline mosaicism. Eur J Hum Genet 2007; 15(8): 902-904.</p><p>294. Venkitaramani DV, Lombroso PJ. Molecular basis of genetic neuropsychiatric disorders. Child Adolesc Psychiatr Clin N Am 2007; 16(3): 541-556.</p><p>295. Venter PA, Op't Hof J, Coetzee DJ. The Martin-Bell syndrome in South Africa. Am J Med Genet 1986; 23(1-2): 597-610.</p><p>296. Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 2000; 55(8): 1188- 1193.</p><p>297. Villard L, Levy N, Xiang F, Kpebe A, Labelle V, Chevillard C et al. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet 2001; 38(7): 435-442.</p><p>298. Vorsanova SG, Demidova IA, Ulas V, Soloviev IV, Kazantzeva LZ, Yurov Yu B. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases. Neuroreport 1996; 8(1): 187-189.</p><p>299. Vorsanova SG, Ulas V, Iurov Iu B, Giovanucci-Uzielli ML, Demidova IA, Gianti L et al. [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]. Zh Nevrol Psikhiatr Im S S Korsakova 2002; 102(10): 23-29.</p><p>300. Vorsanova SG, Yurov YB, Kolotii AD, Soloviev IV. FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome. Brain Dev 2001; 23 Suppl 1: S191-195.</p><p>123 301. Vorsanova SG, Yurov YB, Ulas VY, Demidova IA, Sharonin VO, Kolotii AD et al. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev 2001; 23 Suppl 1: S196-201.</p><p>302. Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos J et al. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. Eur J Paediatr Neurol 2007; 11(4): 235-239.</p><p>303. Wahlstrom J. Genetic implications of Rett syndrome. Brain Dev 1985; 7(6): 573-574.</p><p>304. Wahlstrom J, Anvret M. Chromosome findings in the Rett syndrome and a test of a two- step mutation theory. Am J Med Genet Suppl 1986; 1: 361-368.</p><p>305. Wahlstrom J, Uller A, Johannesson T, Holmqvist D, Darnfors C, Vujic M et al. Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p. J Med Genet 1999; 36(4): 343-345.</p><p>306. Wahlstrom J, Witt-Engerstrom I, Mellquist L, Anvret M, Oden A. The Rett syndrome related to fragile X(P22) in caffeine-induced lymphocyte culture. Brain Dev 1990; 12(1): 128-130.</p><p>307. Walker T, von Komorowski G, Scheurlen W, Dorn-Beineke A, Back W, Bayerl C. Neonatal mastocytosis with pachydermic bullous skin without c-Kit 816 mutation. Dermatology 2006; 212(1): 70-72.</p><p>308. Wan M, Francke U. Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1). Am J Med Genet 1998; 78(2): 169-172.</p><p>309. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999; 65(6): 1520-1529.</p><p>310. Wan M, Zhao K, Lee SS, Francke U. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum Mol Genet 2001; 10(10): 1085-1092.</p><p>311. Wang NC, Lee CY. Molecular cloning of the aspartate 4-decarboxylase gene from Pseudomonas sp. ATCC 19121 and characterization of the bifunctional recombinant enzyme. Appl Microbiol Biotechnol 2006; 73(2): 339-348.</p><p>312. Wang NC, Lee CY. Enhanced transaminase activity of a bifunctional L-aspartate 4- decarboxylase. Biochem Biophys Res Commun 2007; 356(2): 368-373.</p><p>124 313. Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H et al. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A 2003; 118A(2): 103-114.</p><p>314. Webb T, Clarke A, Hanefeld F, Pereira JL, Rosenbloom L, Woods CG. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. J Med Genet 1998; 35(12): 997-1003.</p><p>315. Webb T, Watkiss E. A comparative study of X-inactivation in Rett syndrome probands and control subjects. Clin Genet 1996; 49(4): 189-195.</p><p>316. Webb T, Watkiss E, Woods CG. Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome. Clin Genet 1993; 44(5): 236-240.</p><p>317. White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC et al. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 2010; 13(2): 168-178.</p><p>318. Wong VC, Li SY. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. J Child Neurol 2007; 22(12): 1397-1400.</p><p>319. Xiang F, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M. Mutation screening in Rett syndrome patients. J Med Genet 2000; 37(4): 250-255.</p><p>320. Xiang F, Stenbom Y, Anvret M. MECP2 mutations in Swedish Rett syndrome clusters. Clin Genet 2002; 61(5): 384-385.</p><p>321. Xiang F, Stenbom Y, Anvret M, Hagberg B. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed. Neuropediatrics 2001; 32(4): 217-218.</p><p>322. Xiang F, Zhang Z, Clarke A, Joseluiz P, Sakkubai N, Sarojini B et al. Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. J Med Genet 1998; 35(4): 297-300.</p><p>323. Xinhua B, Shengling J, Fuying S, Hong P, Meirong L, Wu XR. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol 2008; 23(1): 22-25.</p><p>324. Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A et al. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. Hum Mutat 2001; 18(3): 253.</p><p>325. Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R et al. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev 2001; 23 Suppl 1: S157-160. 125 326. Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Hum Mutat 2002; 20(4): 323-324.</p><p>327. Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, Webster RI et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008; 23(2): 155-162.</p><p>328. Young LJ. Oxytocin and vasopressin as candidate genes for psychiatric disorders: lessons from animal models. Am J Med Genet 2001; 105(1): 53-54.</p><p>329. Yurov YB, Vorsanova SG, Kolotii AD, Iourov IY. Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett syndrome. Brain Dev 2001; 23 Suppl 1: S214-217.</p><p>330. Zahorakova D, Jachymova M, Kemlink D, Baxova A, Martasek P. APOE epsilon4: a potential modulation factor in Rett syndrome. J Child Neurol 2010; 25(5): 546-550.</p><p>331. Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N et al. Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. J Hum Genet 2007; 52(4): 342-348.</p><p>332. Zarchi O, Attias J, Gothelf D. Auditory and visual processing in Williams syndrome. Isr J Psychiatry Relat Sci 2010; 47(2): 125-131.</p><p>333. Zeev BB, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009; 72(14): 1242-1247.</p><p>334. Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N et al. Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol 2002; 17(1): 20- 24.</p><p>335. Zhang JJ, Bao XH, Cao GN, Jiang SL, Zhu XW, Lu HM et al. [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010; 27(2): 121-124.</p><p>336. Zhu X, Li M, Pan H, Bao X, Zhang J, Wu X. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. J Child Neurol 2010; 25(7): 842-848.</p><p>337. Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. Am J Med Genet 1990; 35(1): 148-151.</p><p>126 338. Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 1990; 12(1): 131-135.</p><p>Animal models</p><p>1. DeLorey TM. GABRB3 gene deficient mice: a potential model of autism spectrum disorder. Int Rev Neurobiol 2005; 71: 359-382.</p><p>2. DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD. Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. Behav Brain Res 2008; 187(2): 207-220.</p><p>3. Doppler E, Rockenstein E, Ubhi K, Inglis C, Mante M, Adame A et al. Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome. Acta Neuropathol 2008; 116(4): 425-437.</p><p>4. Elsen GE, Choi LY, Prince VE, Ho RK. The autism susceptibility gene met regulates zebrafish cerebellar development and facial motor neuron migration. Dev Biol 2009; 335(1): 78-92.</p><p>5. Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R et al. Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome. Am J Psychiatry 2010; 167(12): 1508-1517.</p><p>6. Giza J, Urbanski MJ, Prestori F, Bandyopadhyay B, Yam A, Friedrich V et al. Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2. J Neurosci 2010; 30(44): 14805-14816.</p><p>7. Gogolla N, Leblanc JJ, Quast KB, Sudhof T, Fagiolini M, Hensch TK. Common circuit defect of excitatory-inhibitory balance in mouse models of autism. J Neurodev Disord 2009; 1(2): 172-181.</p><p>8. Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001; 27(3): 322-326.</p><p>9. Jamain S, Radyushkin K, Hammerschmidt K, Granon S, Boretius S, Varoqueaux F et al. Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc Natl Acad Sci U S A 2008; 105(5): 1710-1715.</p><p>10. Jordan C, Li HH, Kwan HC, Francke U. Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. BMC Med Genet 2007; 8: 36.</p><p>127 11. Judson MC, Bergman MY, Campbell DB, Eagleson KL, Levitt P. Dynamic gene and protein expression patterns of the autism-associated met receptor tyrosine kinase in the developing mouse forebrain. J Comp Neurol 2009; 513(5): 511-531.</p><p>12. Jugloff DG, Vandamme K, Logan R, Visanji NP, Brotchie JM, Eubanks JH. Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. Hum Mol Genet 2008; 17(10): 1386-1396.</p><p>13. Kriaucionis S, Paterson A, Curtis J, Guy J, Macleod N, Bird A. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol Cell Biol 2006; 26(13): 5033-5042.</p><p>14. McFarlane HG, Kusek GK, Yang M, Phoenix JL, Bolivar VJ, Crawley JN. Autism-like behavioral phenotypes in BTBR T+tf/J mice. Genes Brain Behav 2008; 7(2): 152-163.</p><p>15. Mines MA, Yuskaitis CJ, King MK, Beurel E, Jope RS. GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS One 2010; 5(3): e9706.</p><p>16. Moy SS, Nadler JJ, Perez A, Barbaro RP, Johns JM, Magnuson TR et al. Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice. Genes Brain Behav 2004; 3(5): 287-302.</p><p>17. Moy SS, Nadler JJ, Young NB, Nonneman RJ, Grossman AW, Murphy DL et al. Social approach in genetically engineered mouse lines relevant to autism. Genes Brain Behav 2009; 8(2): 129-142.</p><p>18. Moy SS, Nadler JJ, Young NB, Nonneman RJ, Segall SK, Andrade GM et al. Social approach and repetitive behavior in eleven inbred mouse strains. Behav Brain Res 2008; 191(1): 118-129.</p><p>19. Moy SS, Nadler JJ, Young NB, Perez A, Holloway LP, Barbaro RP et al. Mouse behavioral tasks relevant to autism: phenotypes of 10 inbred strains. Behav Brain Res 2007; 176(1): 4-20.</p><p>20. Moy SS, Nonneman RJ, Young NB, Demyanenko GP, Maness PF. Impaired sociability and cognitive function in Nrcam-null mice. Behav Brain Res 2009; 205(1): 123-131.</p><p>21. Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 2009; 137(7): 1235-1246.</p><p>22. Nuber UA, Kriaucionis S, Roloff TC, Guy J, Selfridge J, Steinhoff C et al. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Hum Mol Genet 2005; 14(15): 2247-2256.</p><p>128 23. Radyushkin K, Hammerschmidt K, Boretius S, Varoqueaux F, El-Kordi A, Ronnenberg A et al. Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit. Genes Brain Behav 2009; 8(4): 416-425.</p><p>24. Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T et al. Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients. J Clin Invest 2007; 117(4): 931-943.</p><p>25. Schmid RS, Tsujimoto N, Qu Q, Lei H, Li E, Chen T et al. A methyl-CpG-binding protein 2-enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome. Neuroreport 2008; 19(4): 393-398.</p><p>26. Stearns NA, Schaevitz LR, Bowling H, Nag N, Berger UV, Berger-Sweeney J. Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience 2007; 146(3): 907-921.</p><p>27. Tabuchi K, Blundell J, Etherton MR, Hammer RE, Liu X, Powell CM et al. A neuroligin- 3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 2007; 318(5847): 71-76.</p><p>28. Umeda T, Takashima N, Nakagawa R, Maekawa M, Ikegami S, Yoshikawa T et al. Evaluation of Pax6 mutant rat as a model for autism. PLoS One 2010; 5(12): e15500.</p><p>29. Veenstra-Vanderweele J, Jessen TN, Thompson BJ, Carter M, Prasad HC, Steiner JA et al. Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse. J Neurodev Disord 2009; 1(2): 158-171.</p><p>30. Wu H, Tao J, Chen PJ, Shahab A, Ge W, Hart RP et al. Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A 2010; 107(42): 18161-18166.</p><p>31. Yochum CL, Bhattacharya P, Patti L, Mirochnitchenko O, Wagner GC. Animal model of autism using GSTM1 knockout mice and early post-natal sodium valproate treatment. Behav Brain Res 2010; 210(2): 202-210.</p><p>32. Young JI, Zoghbi HY. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet 2004; 74(3): 511-520.</p><p>33. Zaccaria KJ, Lagace DC, Eisch AJ, McCasland JS. Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice. Genes Brain Behav 2010; 9(8): 985-996.</p><p>129 34. Zhang A, Shen CH, Ma SY, Ke Y, El Idrissi A. Altered expression of Autism-associated genes in the brain of Fragile X mouse model. Biochem Biophys Res Commun 2009; 379(4): 920-923.</p><p>35. Zhao Y, Fung C, Shin D, Shin BC, Thamotharan S, Sankar R et al. Neuronal glucose transporter isoform 3 deficient mice demonstrate features of autism spectrum disorders. Mol Psychiatry 2010; 15(3): 286-299.</p><p>130</p>
Details
-
File Typepdf
-
Upload Time-
-
Content LanguagesEnglish
-
Upload UserAnonymous/Not logged-in
-
File Pages130 Page
-
File Size-