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Karen Brøndum Nielsen - Publikationer 2013

218. Engelbrechtsen L, Brøndum-Nielsen K, Ekelund C, Tabor A, Skibsted L; the Danish Fetal Medicine study group. Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women. Ultrasound Obstet Gynecol. 2013 Nov;42(5):530-5. Epub 2013 Oct 9. 217. Brøndum-Nielsen K, Jensen H, Timshel S, Grønskov K, Larsen M. Genetic testing and counselling in inherited eye disease. Ugeskr Laeger. 2013 Sep 2;175(36):2031-4. [Article in Danish] 216. Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild in a 3-generation family. Am J Med Genet A. 2013 Sep;161(9):2358-62. doi: 10.1002/ajmg.a.36099. Epub 2013 Jul 25. 216. Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Ostergaard JR. in Denmark. Birth incidence, genetic findings, and age at diagnosis. Am J Med Genet A. 2013 Sep;161(9):2197-203. doi: 10.1002/ajmg.a.36058. Epub 2013 Aug 2. 215. Bertelsen B, Debes NM, Hjermind LE, Skov L, Brøndum-Nielsen K, Tümer Z. Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature. Neurogenetics. 2013 Aug 29. [Epub ahead of print] 214. Melchior L, Bertelsen B, Debes NM, Groth C, Skov L, Mikkelsen JD, Brøndum-Nielsen K, Tümer Z. Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbidities. Am J Med Genet B Neuropsychiatr Genet. 2013 Jul 27. doi: 10.1002/ajmg.b.32186. [Epub ahead of print] 213. Gilling M, Rasmussen HB, Calloe K, Sequeira AF, Baretto M, Oliveira G, Almeida J, Lauritsen MB, Ullmann R, Boonen SE, Brondum-Nielsen K, Kalscheuer VM, Tümer Z, Vicente AM, Schmitt N, Tommerup N. Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Front Genet. 2013 Apr 16;4:54. doi: 10.3389/fgene.2013.00054. Print 2013. 212. Engelbrechtsen L, Brøndum-Nielsen K, Ekelund C, Tabor A, Skibsted L; the Danish Fetal Medicine study group. Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women. Ultrasound Obstet Gynecol. 2013 Mar 14 [Epub ahead of print] 211. Halgren C, Bache I, Bak M, Myatt MW, Anderson CM, Brøndum-Nielsen K, Tommerup N. Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. Eur J Hum Genet. 2012 Dec;20(12):1315-9. doi: 10.1038/ejhg.2012.92. Epub 2012 May 23. 210. Jønch AE, Larsen LG, Pouplier S, Nielsen K, Brøndum-Nielsen K, Tümer Z. Partial duplication of 13q31.3-q34 and of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus. Am J Med Genet A. 2012 Sep;158A(9):2302-8. doi: 10.1002/ajmg.a.35505. Epub 2012 Jul 27. 209. Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K. Dominant optic atrophy in Denmark - report of 15 novel in OPA1, using a strategy with a

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detection rate of 90 % BMC Med Genet. 2012 Aug 2;13(1):65. 208. Bertelsen B, Melchior L, Debes NM, Skov L, Brøndum-Nielsen K, Tümer Z. Genetikken bag Gilles de la Tourette syndrom. Ugeskr Laeger. 2012 Feb 20;174(8):484-487. (Danish) 207. Boonen SE, Hahnemann JM, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. Eur J Hum Genet. 2012 Jan;20(1):119-21. Epub 2011 Aug 24. 206. Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Lucamp, Grønskov K, Brøndum-Nielsen K. A novel heterozygous nonsense of the OPTN gene segregating in a Danish family with ALS. Neurobiol Aging. 2012 Jan;33(1):208.e1-5. Epub 2011 Aug 26. 205. Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Rendtoff N, Tranebjærg L, Brøndum-Nielsen K, Tümer Z Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3. 204. Roende G, Ravn K, Fuglsang K, Andersen H, Bieber Nielsen J, Brøndum-Nielsen K, Jensen JE. DXA measurements in rett syndrome reveal small bones with low bone mass. J Bone Miner Res. 2011 Sep;26(9):2280-6. doi: 10.1002/jbmr.423. 203. Ekelund CK, Petersen OB, Skibsted L, Kjaergaard S, Vogel I, Tabor A; Danish Fetal Medicine Research Group including Brøndum-Nielsen K. First-trimester screening for 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13. Ultrasound Obstet Gynecol. 2011 Aug;38(2):140-4. doi: 10.1002/uog.8929 202. Skytte AB, Crüger D, Gerster M, Laenkholm AV, Lang C, Brøndum-Nielsen K, Andersen M, Sunde L, Kølvra S, Gerdes AM. Breast cancer after bilateral risk-reducing mastectomy. Clin Genet. 2011 May;79(5):431-7. Epub 2011 Jan 4. 201. Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Med Genet. 2011 Apr 4;12:49. doi: 10.1186/1471-2350-12-49. 200. Roende G, Ravn K, Fuglsang K, Andersen H, Vestergaard A, Brøndum-Nielsen K, Jensen JE, Nielsen JB. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3. 199. Schönewolf-Greulich B, Skibsted L, Maroun LL, Lund AM, Brøndum-Nielsen K. Increased nuchal translucency in osteogenesis imperfecta [Article in Danish] Ugeskr Laeger. 2011 Mar 28;173(13):973-4. Danish 198. Parr JR, Le Couteur A, Baird G, Rutter M, Pickles A, Fombonne E, Bailey AJ; International Molecular Genetic Study of Autism Consortium (IMGSAC) Members including Brøndum-Nielsen K. Early developmental regression in autism spectrum disorder: evidence from an international multiplex

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sample. J Autism Dev Disord. 2011 Mar;41(3):332-40. 197. Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J Med Genet. 2011 Jan 28. [Epub ahead of print] PMID: 21278389 196. Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H. A nonsense mutation in FMR1 causing . Eur J Hum Genet. 2011 Jan 26. [Epub ahead of print]PMID: 21267007 195. Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766.PMID: 21204233 194. Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, Mulder EJ, Kantojärvi K, Järvelä I, Klauck SM, Poustka F, Bailey AJ, Monaco AP; EU Autism MOLGEN Consortium. Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet. 2010 Sep;18(9):1013-9. Epub 2010 May 5. Erratum in: Eur J Hum Genet. 2010 Sep;18(9):1020. Parr, Jeremy 193. Munch IC, Ek J, Kessel L, Sander B, Almind GJ, Brøndum-Nielsen K, Linneberg A, Larsen M. Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. Invest Ophthalmol Vis Sci. 2010 May;51(5):2317-21. Epub 2009 Dec 10. 192. Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum- Nielsen K. Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes Hum Mutat. 2010 Apr;31(4):429-36. 191. Skytte AB, Gerdes AM, Andersen MK, Sunde L, Brøndum-Nielsen K, Waldstrøm M, Kølvraa S, Crüger D. Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing. Clin Genet. 2010 Apr;77(4):342-9. Epub 2010 Jan 6. 190. Bremer A, Giacobini M, Nordenskjöld M, Brøndum-Nielsen K, Mansouri M, Dahl N, Anderlid B, Schoumans J. 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 Jan 5;153B(1):280-5 189. Roos L, Brøndum Nielsen K, Tümer Z. A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences. Am J Med Genet A. 2009 Dec;149A(12):2900-1 188. Riise R, D'haene B, De Baere E, Grønskov K, Brøndum-Nielsen K. Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79:

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201-203. Acta Ophthalmol. 2009 Nov;87(8):923. Epub . 187. Madsen C, Grønskov K, Brøndum-Nielsen K, Jensen TG. Normal RNAi response in human fragile x fibroblasts. BMC Res Notes. 2009 Sep 9;2:177. 186. Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome J Med Genet. 2009 Jun 10. Oct;46(10):703-10. Epub 2009 Jun 10 185. Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. Br J Ophthalmol. 2009 Mar;93(3):409-13. doi: 10.1136/bjo.2007.131110. Epub 2008 Jul 31. 184. Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. Mol Cytogenet. 2009 Feb 17;2:6. 183. Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. Epub 2008 Dec 5. 182. Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, Jørgensen MW, Vogel I. Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype. Acta Obstet Gynecol Scand. 2008;87(11):1252-5. 181. Barken SS, Skibsted L, Jensen LN, Sperling L, Zingenberg H, Brøndum-Nielsen K. Diagnosis and prediction of parental origin of triploidies by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11-14 weeks of gestation. Acta Obstet Gynecol Scand. 2008;87(9):975-8. 180. Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. Br J Ophthalmol. 2009 Mar;93(3):409-13. doi: 10.1136/bjo.2007.131110. Epub 2008 Jul 31. 179. Kjaersgaard S, Hahnemann JM, Skibsted L, Jensen LN, Sperling L, Zingenberg H, Kristiansen A, Brøndum-Nielsen K. [Prenatal diagnosis of aberrations after implementation of screening for Down's syndrome] Ugeskr Laeger. 2008 Mar 31;170(14):1152-6. Danish. 178. Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A. 2008 Feb 15;146A(4):517-20. No abstract available.

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177. Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. Eur J Hum Genet. 2008 Apr;16(4):453-61. Epub 2008 Jan 16. 176. Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N. A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet. 2008 Mar;16(3):312-9. Epub 2008 Jan 9. 175. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. Review. 174. Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K, Olsen JH. Risk for cancer in patients with Bardet-Biedl syndrome and their relatives. Am J Med Genet A. 2007 Aug 1;143A(15):1699-702. 173. Bache I, Brondum-Nielsen K, Tommerup N. Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers. Genet Med. 2007 Mar;9(3):185-7. 172. Jensen TG, Brøndum-Nielsen K; Dansk Selskab for Medicinsk Genetik. [Gene therapy. The Danish Society of ] Ugeskr Laeger. 2007 Mar 19;169(12):1119. Danish. No abstract available. 171. Dahl C, Grønskov K, Larsen LA, Guldberg P, Brøndum-Nielsen K. A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome. Clin Chem. 2007 Apr;53(4):790-3. Epub 2007 Jan 26. 170. Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brøndum-Nielsen K. Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? Am J Med Genet A. 2006 Dec 15;140(24):2709-13. 169. Boonen SE, Grønskov K, Brøndum-Nielsen K. [Fragile X and fragile X syndrome] Ugeskr Laeger. 2006 Oct 23;168(43):3727-8. Danish. 168. Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K. [Screening for fragile X syndrome. International experiences] Ugeskr Laeger. 2006 Oct 23;168(43):3704-9. Review. Danish. 167. Gerdes AM, Brøndum-Nielsen K, Ejlertsen B. [Press, ethics and genetic screening] Ugeskr Laeger. 2006 Oct 2;168(40):3448; author reply 3448. Danish. No abstract available. 166. Bisgaard AM, Kirchhoff M, Tümer Z, Jepsen B, Brøndum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental

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retardation, and dysmorphic features. Am J Med Genet A. 2006 Oct 15;140(20):2180-7. 165. Brøndum-Nielsen K, Gerdes AM. [Genetic counselling in monogenic cancer syndromes] Ugeskr Laeger. 2006 Jun 12;168(24):2350-4. Danish. 164. Olsen JH, Hahnemann JM, Brøndum-Nielsen K. [Genetic epidemiology and cancer] Ugeskr Laeger. 2006 Jun 12;168(24):2344-8. Danish. 163. Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS. Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. Am J Hum Genet. 2006 May;78(5):878-83. Epub 2006 Mar 17. 162. Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet. 2006 Apr;14(4):410-7. 161. Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long- range PCR sequencing, and report of 28 novel mutations. Hum Mutat. 2005 Oct;26(4):374-83. 160. Hutchings Hoffmann M, Wirenfeldt Klausen T, Hasle H, Schmiegelow K, Brondum-Nielsen K, Johnsen HE. Multiplex reverse transcription polymerase chain reaction screening in acute myeloid detects cytogenetically unrevealed abnormalities of prognostic significance. Haematologica. 2005 Jul;90(7):984-6. 159. Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K. [Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms] Ugeskr Laeger. 2005 May 30;167(22):2394-8. Review. Danish. No abstract available. 158. Olsen JH, Hahnemann JM, Børresen-Dale AL, Tretli S, Kleinerman R, Sankila R, Hammarström L, Robsahm TE, Kääriäinen H, Bregård A, Brøndum-Nielsen K, Yuen J, Tucker M. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer. 2005 Jul 25;93(2):260-5. 157. Sogaard M, Tümer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Pedersen VF, Baekgaard P, Tommerup N, Cingöz S, Duno M, Brondum-Nielsen K. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet. 2005 May 17;6:21. 156. Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brøndum-Nielsen K.

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Further delineation of the . Clin Dysmorphol. 2005 Apr;14(2):55-60. 155. Dufva IH, Karle H, Brondum-Nielsen K, Andersen MK, Madsen HO, Johnsen HE. Chronic myeloid leukaemia with BCR-ABL fusion genes located to both chromosomes 9, cyclic leukocytosis and nodal T-lymphoblastic transformation--durable complete remission following imatinib therapy. Leukemia. 2005 Apr;19(4):671-3. No abstract available. 154. Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A. 2005 Jan 30;132A(3):324-8. Review. 153. Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum- Nielsen K, Cotterill R, Engeland H, Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP; International Molecular Genetic Study of Austism Consortium. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet. 2005 Feb;13(2):198-207. 152. Schoumans J, Nordgren A, Ruivenkamp C, Brøndum-Nielsen K, Teh BT, Annéren G, Holmberg E, Nordenskjöld M, Anderlid BM. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet. 2005 Feb;13(2):260-3. 151. Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brøndum-Nielsen K. Molecular cytogenetic characterization of ring in three unrelated patients. Am J Med Genet A. 2004 Nov 1;130A(4):340-4. 150. Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. An excess of breakpoints in male infertility. Eur J Hum Genet. 2004 Dec;12(12):993-1000. 149. Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. Genet Test. 2004 Summer;8(2):181-4. 148. Grønskov K, Hjalgrim H, Nielsen IM, Brøndum-Nielsen K. Screening of the ARX gene in 682 retarded males. Eur J Hum Genet. 2004 Sep;12(9):701-5. 147. Schoumans J, Nielsen K, Jeppesen I, Anderlid BM, Blennow E, Brøndum-Nielsen K, Nordenskjöld M. A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size. Eur J Hum Genet. 2004 Jun;12(6):447-54.

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146. Østergaard E, Pedersen VF, Skriver EB, Brøndum-Nielsen K. Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. Am J Med Genet A. 2004 Jan 1;124A(1):74-8. 145. Brøndum-Nielsen K. [Marriages between cousins] Ugeskr Laeger. 2003 Apr 28;165(18):1849. Danish. No abstract available. 144. Brøndum-Nielsen K. [Genetic counseling and genetic services] Ugeskr Laeger. 2003 Feb 17;165(8):777-9. Danish. 143. Østergaard E, Wibrand F, Horn N, Brøndum-Nielsen K. [Mitochondrial diseases. Clinical features, investigation and genetics] Ugeskr Laeger. 2003 Feb 10;165(7):663-8. Review. Danish. 142. Hoffmann AL, Baekgård P, Beck B, Brøndum-Nielsen K. [Causes of mental retardation in children of immigrant background. A registry study of the occurrence of consanguinity among parents of mentally retarded children at the Center for Handicapped, Glostrup hospital, county of Copenhagen] Ugeskr Laeger. 2002 Dec 30;165(1):42-6. Danish. 141. Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum- Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet. 2003 Feb;72(2):454-64. Epub 2003 Jan 14. 140. Østergaard E, Montserrat-Sentis B, Grønskov K, Brøndum-Nielsen K. The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin Genet. 2002 Oct;62(4):303-5. 139. Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol. 2002 Sep 2;65(2):101-8. 138. Andersen MK, Pedersen-Bjergaard J, Kjeldsen L, Dufva IH, Brøndum-Nielsen K. Clonal Ph-negative hematopoiesis in CML after therapy with imatinib mesylate is frequently characterized by . Leukemia. 2002 Jul;16(7):1390-3. No abstract available. 137. Silahtaroglu AN, Brondum-Nielsen K, Gredal O, Werdelin L, Panas M, Petersen MB, Tommerup N, Tümer Z. Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS). BMC Genet. 2002 Apr 19;3:5. 136. Jacobsen SD, Gronskov K, Brondum-Nielsen K, Parving A. Is there a relationship between U-shaped audiograms and mutations in connexin 26? Scand Audiol. 2001;30(3):184-8.

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135. Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, Lyngbye T, Brøndum-Nielsen K, Rosenberg T. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet. 2001 Jul;109(1):11-8. 134. Brøndum-Nielsen K, Pedersen ML. [Epigenetic modification of the genetic material. and its significance for disease in human beings] Ugeskr Laeger. 2001 Jun 4;163(23):3218-22. Review. Danish. 133. Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brøndum-Nielsen K. Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr. 2001 Apr;90(4):455-9. 132. Borck G, Wirth J, Hardt T, Tönnies H, Brøndum-Nielsen K, Bugge M, Tommerup N, Nothwang HG, Ropers HH, Haaf T. Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome. J Med Genet. 2001 Feb;38(2):117-21. No abstract available. 131. Riise R, Storhaug K, Brøndum-Nielsen K. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand. 2001 Apr;79(2):201-3. 130. Olsen JH, Hahnemann JM, Børresen-Dale AL, Brøndum-Nielsen K, Hammarström L, Kleinerman R, Kääriäinen H, Lönnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst. 2001 Jan 17;93(2):121-7. 129. Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, Brøndum-Nielsen K, Gerdes AM, Møller P, Kristoffersson U, Olsson H, Borg A, Monteiro AN. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet. 2001 Feb 15;10(4):353-60. 128. Hjalgrim H, Fisher Hansen B, Brondum-Nielsen K, Nolting D, Kjaer I. Aspects of skeletal development in fragile X syndrome fetuses. Am J Med Genet. 2000 Nov 13;95(2):123-9. 127. Bugge M, Bruun-Petersen G, Brøndum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen PK, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen KR, Rasmussen K, Tommerup N. Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.* J Med Genet. 2000 Nov;37(11):858-65. 126. Friedrich U, Bugge M, Houman M, Friis Henriksen K, Brøndum-Nielsen K. Microdissection - a precise method to disclose the parental origin of supernumerary marker chromosomes. Ann Genet. 2000 Apr-Jun;43(2):109-10. No abstract available. 125. Laake K, Jansen L, Hahnemann JM, Brondum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen JH, Tucker M, Kleinerman R, Børresen- Dale AL.

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Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. Hum Mutat. 2000 Sep;16(3):232-46. 124. Hjalgrim H, Hahnemann JM, Timshel S, Brøndum-Nielsen K. [Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome] Ugeskr Laeger. 2000 Jul 31;162(31):4169-70. Danish. No abstract available. 123. Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat. 2000;16(1):7-12. 122. Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Macpherson JN, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles. Am J Med Genet. 2000 Jul 17;93(2):99-106. 121. Lundsteen C, Brøndum-Nielsen K, Rasmussen K, Petersen GB, Jensen PK. [Screening for and congenital abnormalities in the first versus the second trimester] Ugeskr Laeger. 2000 Mar 13;162(11):1580-2. Danish. No abstract available. 120. Brøndum-Nielsen K. [Molecular biology and patient counseling in the year 2000] Ugeskr Laeger. 2000 Mar 13;162(11):1574. Danish. No abstract available. 119. Mikkelsen AL, Lidegaard O, Meldgaard M, Brøndum-Nielsen K, Lindenberg S. [Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injections] Lakartidningen. 2000 Mar 15;97(11):1269-72. Review. Danish. 118. Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet. 2000 Jan;8(1):19-23. 117. Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J. Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia. Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7. 116. Brøndum-Nielsen K. [Clinical genetics--a new medical specialty] Ugeskr Laeger. 1999 May 3;161(18):2649. Danish. No abstract available. 115. Grønskov K, Rosenberg T, Sand A, Brøndum-Nielsen K. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet. 1999 Apr;7(3):274-86. 114. Jacobsen J, Nielsen EB, Brøndum-Nielsen K, Christensen ME, Olin HB, Tommerup N, Rassing MR. Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability. Eur J Oral Sci. 1999 Apr;107(2):138-46.

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113. Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brøndum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet. 1999 Apr;36(4):271-8. 112. Hjalgrim H, Jacobsen TB, Nørgaard K, Lou HC, Brøndum-Nielsen K, Jonassen O. Frontal-subcortical hypofunction in the fragile X syndrome. Am J Med Genet. 1999 Mar 12;83(2):140-1. No abstract available. 111. Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet. 1999 Apr;64(4):1119-26. 110. Birgens HS, Karle H, Güttler F, Brøndum-Nielsen K. [Screening for hemoglobinopathy] Ugeskr Laeger. 1999 Feb 22;161(8):1137-8. Danish. No abstract available. 109. Brøndum-Nielsen K, Hahnemann JM. [Quality assurance of chromosome examinations in the samples of amniotic fluid and placenta. A 6-year follow-up: no sign of analytic errors in 6384 samples] Ugeskr Laeger. 1999 Feb 8;161(6):803-4. Danish. No abstract available. 108. Lidegaard O, Mikkelsen AL, Meldgaard M, Brøndum-Nielsen K, Lindenberg S. Severe male infertility. Impact of genetic factors on diagnosis and counselling. Acta Obstet Gynecol Scand. 1998 Sep;77(8):799-803. No abstract available. 107. Hjalgrim H, Grønskov K, Brøndum-Nielsen K. [Fragile X syndrome. Diagnosis, genetics and clinical findings] Ugeskr Laeger. 1998 Sep 7;160(37):5330-4. Review. Danish. 106. Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Maternal I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet. 1998 Jun;7(6):1011-9. 105. Nicolaidis P, von Beust G, Bugge M, Karadima G, Vassilopoulos D, Brøndum-Nielsen K, Petersen MB. Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions. Fetal Diagn Ther. 1998 Jan-Feb;13(1):42-5. 104. Grønskov K, Hallberg A, Brøndum-Nielsen K. Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations. Hum Genet. 1998 Apr;102(4):440-5. 103. Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brøndum-Nielsen K, Morton N, Mikkelsen M. Non-disjunction of . Hum Mol Genet. 1998 Apr;7(4):661-9.

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102. Rajpert-De Meyts E, Jørgensen N, Brøndum-Nielsen K, Müller J, Skakkebaek NE. Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia. APMIS. 1998 Jan;106(1):198-204; discussion 204-6. Review. 101. Tümer Z, Wolff D, Silahtaroglu AN, Orum A, Brøndum-Nielsen K. Characterization of a supernumerary small marker in two females with similar phenotypes. Am J Med Genet. 1998 Feb 26;76(1):45-50. 100. Hahnemann JM, Brøndum-Nielsen K. [There is no basis to doubt the reliability of prenatal diagnosis and counseling in . Misleading registry studies] Ugeskr Laeger. 1997 Oct 6;159(41):6084-6; discussion 6086-7. Danish. No abstract available. 99. Brøndum-Nielsen K. The genetic basis for Prader-Willi syndrome: the importance of imprinted genes. Acta Paediatr Suppl. 1997 Nov;423:55-7. 98. Johansson B, Brøndum-Nielsen K, Billström R, Schiødt I, Mitelman F. Translocations between the long arms of chromosomes 1 and 5 in hematologic malignancies are strongly associated with neoplasms of the myeloid lineages. Cancer Genet Cytogenet. 1997 Dec;99(2):97-101. 97. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997 Oct;34(10):798-804. 96. Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K, Hasholt L, Vuust J. High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum Genet. 1997 Oct;100(5-6):564-8. 95. Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K. Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. Am J Hum Genet. 1997 Oct;61(4):961-7. 94. Pedersen-Bjergaard J, Brøndum-Nielsen K, Karle H, Johansson B. Chemotherapy-related - late occurring - in AML, ALL and CML. Similar events related to treatment with DNA topoisomerase II inhibitors? Leukemia. 1997 Sep;11(9):1571-4. 93. Schulze A, Hansen C, Baekgaard P, Blichfeldt S, Petersen MB, Tommerup N, Brøndum-Nielsen K. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect. Acta Paediatr. 1997 Aug;86(8):906-10. 92. Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, Pangalos C, Abazis D, Kitsos G, Vassilopoulos D, Brøndum-Nielsen K, Petersen MB. Partial trisomy 17q22-qter and partial Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet. 1997 May 2;70(1):87-94. Review.

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91. Senger G, Chudoba I, Friedrich U, Tommerup N, Claussen U, Brøndum-Nielsen K. Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection. Prenat Diagn. 1997 Apr;17(4):369-74. 90. Binzer MN, Gredal O, Brøndum-Nielsen K, Andersen PM. [Amyotrophic lateral sclerosis and superoxide dismutase--a review] Ugeskr Laeger. 1997 Mar 10;159(11):1593-6. Review. Danish. 89. Brøndum-Nielsen K. Genetic services in Denmark. Eur J Hum Genet. 1997;5 Suppl 2:64-8. No abstract available. 88. Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Hum Mutat. 1997;10(2):175-7. No abstract available. 87. Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Hum Genet. 1997 Jan;99(1):56-61. 86. Brøndum-Nielsen K, Christensen K. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register. Clin Genet. 1996 Sep;50(3):116-20. 85. Schulze A, Hansen C, Skakkebaek NE, Brøndum-Nielsen K, Ledbeter DH, Tommerup N. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet. 1996 Apr;12(4):452-4. 84. Junker S, Brøndum-Nielsen K, Newell JW, Matthias P, Tommerup N. Assignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamer- binding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridization. Genomics. 1996 Apr 1;33(1):143-5. No abstract available. 83. Johannsson O, Ostermeyer EA, Håkansson S, Friedman LS, Johansson U, Sellberg G, Brøndum-Nielsen K, Sele V, Olsson H, King MC, Borg A. Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet. 1996 Mar;58(3):441-50. 82. Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Orum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC, Guzda M, Tommerup N, Brøndum-Nielsen K. 18p de novo: parental origin and different mechanisms of formation. Eur J Hum Genet. 1996;4(3):160-7. Erratum in: Eur J Hum Genet 1996;4(5):291. 81. Erçal MD, Bröndum-Nielsen K. Length polymorphism of heterochromatic segment of the in boys with acute leukemia. Acta Paediatr Jpn. 1995 Oct;37(5):614-6. 80. Brøndum-Nielsen K, Mikkelsen M. A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes,

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identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. Prenat Diagn. 1995 Jul;15(7):615-9. 79. Petersen MB, Brøndum-Nielsen K, Hansen LK, Wulff K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet. 1995 Jun 19;60(3):261-2. No abstract available. 78. Brøndum-Nielsen K, Tommerup N. [Identification of cancer genes. The need for diagnosis and counseling of families with cancer] Ugeskr Laeger. 1995 Jun 12;157(24):3462-3. Danish. No abstract available. 77. Bajalica S, Brøndum-Nielsen K, Sørensen AG, Pedersen NT, Kristoffersson U, Akerman M, Anderson M, Pisa P, Nordenskjöld M. Characterization of add(1)(p36) in non-Hodgkin by fluorescence in situ hybridization. Genes Chromosomes Cancer. 1995 May;13(1):34-9. 76. Schulze AH, Petersen MB, Blichfeldt SS, Kastrup KW, Brøndum-Nielsen K. [Prader-Willi syndrome--clinical picture and genetics] Ugeskr Laeger. 1995 Mar 13;157(11):1513-9. Review. Danish. 75. Warburg M, Bugge M, Brøndum-Nielsen K. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet. 1995 Jan;32(1):19-24. 74. Heyman M, Grandér D, Bröndum-Nielsen K, Cederblad B, Liu Y, Xu B, Einhorn S. Interferon system defects in malignant T-cells. Leukemia. 1994 Mar;8(3):425-34. 73. Gerdes AM, Petersen MB, Schrøder HD, Wulff K, Brøndum-Nielsen K. Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. Clin Genet. 1994 Jan;45(1):11-6. 72. Liu Y, Söderhäll S, Heyman M, Grandér D, Bröndum-Nielsen K, Einhorn S. Multiple genetic events involving RB1 gene deletion and amplification of in a case of acute lymphocytic leukemia. Genes Chromosomes Cancer. 1994 Jan;9(1):72-5. 71. Schousboe K, Brøndum-Nielsen K. [Interphase cytogenetics--a new technique for analysis of acquired genetic changes in tumor cells] Ugeskr Laeger. 1993 Dec 20;155(51):4158-62. Review. Danish. 70. Hast R, Stenke L, Bröndum-Nielsen K, Ost A. Acute myelomonocytic leukemia (M4) and t(15;17)(q24;q21). A diagnostic dilemma. Cancer Genet Cytogenet. 1993 Oct 1;70(1):79-80. No abstract available. 69. Brøndum-Nielsen K. Ankyloblepharon filiforme adnatum and : a new family with apparently autosomal dominant inheritance. Am J Med Genet. 1993 Sep 1;47(3):439. No abstract available.

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68. Bajalica S, Sørensen AG, Pedersen NT, Heim S, Brøndum-Nielsen K. Chromosome painting as a supplement to cytogenetic banding analysis in non-Hodgkin's . Genes Chromosomes Cancer. 1993 Aug;7(4):231-9. 67. Heyman M, Grandér D, Bröndum-Nielsen K, Liu Y, Söderhäll S, Einhorn S. Deletions of the short arm of chromosome 9, including the interferon-alpha/-beta genes, in acute lymphocytic leukemia. Studies on loss of heterozygosity, parental origin of deleted genes and prognosis. Int J Cancer. 1993 Jul 9;54(5):748-53. 66. Brøndum-Nielsen K, Bajalica S, Wulff K, Mikkelsen M. Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ . Clin Genet. 1993 May;43(5):235-9. 65. Brøndum-Nielsen K, Nørgaard-Pedersen B. [Prenatal diagnosis in Scandinavia] Nord Med. 1993;108(6-7):189-92. Swedish. 64. Brøndum-Nielsen K. [Genetic counseling. Past time, present time, future] Ugeskr Laeger. 1992 Dec 21;154(52):3747-53. Review. Danish. 63. Orstavik KH, Tangsrud SE, Kiil R, Hansteen IL, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Bröndum-Nielsen K. Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am J Med Genet. 1992 Nov 1;44(4):534-8. 62. Bui TH, Anvret M, Bröndum-Nielsen K. [Increasing number of hemoglobinopathies. Rapid diagnosis with DNA technique] Lakartidningen. 1992 Sep 23;89(39):3174, 3177. Swedish. No abstract available. 61. Bajalica S, Brøndum-Nielsen K, Sørensen AG, Pedersen NT, Heim S. Identification of a whole-arm translocation by in situ hybridization with directly fluorochrome-labeled probes in a myelodysplastic syndrome. Genes Chromosomes Cancer. 1992 Sep;5(2):128-31. 60. Bajalica S, Allander SV, Ehrenborg E, Brøndum-Nielsen K, Luthman H, Larsson C. Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12- 21.1. Hum Genet. 1992 May;89(2):234-6. 59. Grandér D, Heyman M, Bröndum-Nielsen K, Liu Y, Lundgren E, Söderhäll S, Einhorn S. Interferon system in primary acute lymphocytic leukemia cells with or without deletions of the alpha-/beta- interferon genes. Blood. 1992 Apr 15;79(8):2076-83. 58. Sherman SL, Barbi G, Brøndum-Nielsen K, Brown WT, Carpenter NJ, Chudley AE, Ferraz OP, Ferreira P, Gustavson KH, Halliday J, et al. Collaborative prospective study of the fragile X syndrome: one-year progress report. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):355-60.

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57. Bernell P, Hast R, Bröndum-Nielsen K. Deletion of chromosome 2(p13) is a nonrandomly occurring karyotypic abnormality in myelodysplastic syndrome. Cancer Genet Cytogenet. 1992 Mar;59(1):97-8. No abstract available. 56. Bajalica S, Bui TH, Koch J, Bröndum-Nielsen K. Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe. Prenat Diagn. 1992 Jan;12(1):61-4. 55. Sylvén L, Hagenfeldt K, Bröndum-Nielsen K, von Schoultz B. Middle-aged women with Turner's syndrome. Medical status, hormonal treatment and social life. Acta Endocrinol (Copenh). 1991 Oct;125(4):359-65. 54. Bröndum-Nielsen K. Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes. Clin Genet. 1991 Sep;40(3):215-7. 53. Ehrenborg E, Vilhelmsdotter S, Bajalica S, Larsson C, Stern I, Koch J, Brøndum-Nielsen K, Luthman H. Structure and localization of the human insulin-like growth factor-binding protein 2 gene. Biochem Biophys Res Commun. 1991 May 15;176(3):1250-5. 52. Anvret M, Nordenskjöld M, Stolpe L, Johansson L, Bröndum-Nielsen K. Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the . Hum Genet. 1991 Mar;86(5):481-3. 51. Einhorn S, Grandér D, Björk O, Bröndum-Nielsen K, Söderhäll S. Deletion of alpha-, beta-, and omega-interferon genes in malignant cells from children with acute lymphocytic leukemia. Cancer Res. 1990 Dec 15;50(24):7781-5. 50. Wahlström J, Annerén G, Anvret M, Bröndum-Nielsen K, Dahl N, Gustavson KH, Holmberg L, Holmgren G, Kollberg H, Kristoffersson U, et al. [Diagnosis of cystic fibrosis by means of genetic technology--guidelines from an expert meeting] Lakartidningen. 1990 Oct 17;87(42):3429-30. Swedish. No abstract available. 49. Blennow E, Bröndum-Nielsen K. Partial monosomy 8p with minimal dysmorphic signs. J Med Genet. 1990 May;27(5):327-9. 48. Brøndum Nielsen K. Growth pattern in boys with fragile X. Am J Med Genet. 1988 May-Jun;30(1-2):143-7. 47. Tønnesen T, Schultz Andersen M, Burkart T, Christomanou H, Brøndum Nielsen K, Wiesmann UN. An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide- loading. Acta Paediatr Scand. 1983 Nov;72(6):837-41.

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46. Brøndum Nielsen K, Tommerup N, Friis B, Hjelt K, Hippe E. Folic acid metabolism in a patient with fragile X. Clin Genet. 1983 Sep;24(3):153-5. No abstract available. 45. Tønnesen T, Bro PV, Brøndum Nielsen K, Lykkelund C. Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family. Acta Paediatr Scand. 1983 Mar;72(2):175-8. 44. Tommerup N, Poulsen H, Brøndum-Nielsen K. 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. J Med Genet. 1981 Oct;18(5):374-6. 43. Brondum Nielsen K, Hegedüs V. Amoebic liver abscess with biliary fistula. Rofo. 1975 Nov;123(5):486-8. No abstract available. 42. Nothwang HG, Wirth J, Brandl B, Haaf T, Nielsen KB, Tommerup N, Ropers HH. Identification of positional candidates for neurological disorders on chromsome 13q14-->q22. Cytogenet Cell Genet. 1997;79(3-4):293-7. 41. Lundsteen C, Nielsen KB, Jensen PK, Petersen GB, Rasmussen K. Prenatal and postnatal prevalence of Turner's syndrome. No scientific evidence for study's conclusions. BMJ. 1996 Apr 27;312(7038):1100; author reply 1100-1. No abstract available. 40. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjöld M. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet. 1995 Jan 2;55(1):85-94. 39. Steen AM, Marcus S, Sahlén S, Nielsen KB, Lambert B. The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) in human fibroblasts. Hum Genet. 1991 Aug;87(4):503-5. 38. Blennow E, Nielsen KB. Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84. Clin Genet. 1991 Jun;39(6):429-33. 37. Nielsen KB, Anvret M, Flodmark O, Furuskog P, Bohman-Valis K. Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient. Am J Med Genet. 1991 Jan;38(1):65-8. 36. Güttler F, Lou H, Andresen J, Kok K, Mikkelsen I, Nielsen KB, Nielsen JB. Cognitive development in offspring of untreated and preconceptionally treated maternal phenylketonuria. J Inherit Metab Dis. 1990;13(4):665-71. 35. Pack M, Constantinou CD, Kalia K, Nielsen KB, Prockop DJ. Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. J Biol Chem. 1989 Nov 25;264(33):19694-9.

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34. Egense BM, Nielsen KB. [The fetal hydantoin syndrome] Ugeskr Laeger. 1989 Feb 27;151(9):575-6. Danish. 33. Constantinou CD, Nielsen KB, Prockop DJ. A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. J Clin Invest. 1989 Feb;83(2):574-84. 32. Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M. Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet. 1988 Apr;29(4):739-53. Erratum in: Am J Med Genet 1988 Nov;31(3):723-5. 31. Nielsen KB. Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics. Clin Genet. 1988 Apr;33(4):315-7. 30. Nielsen KB, Schwartz M, Sardemann H. Investigation of three XX males by cytogenetic and DNA analyses. Suggestion of Y chromosome inversion polymorphism. Hum Genet. 1988 Feb;78(2):179-82. 29. Nielsen KB, Gustavson KH. [Fragile X syndrome--the most frequent hereditary type of mental retardation] Nord Med. 1988;103(11):316-8. Swedish. No abstract available. 28. Nielsen KB. [Biological determination of sex. Significance of the genes on the X and Y chromosomes] Ugeskr Laeger. 1987 Mar 23;149(13):833-6. Danish. No abstract available. 27. Nielsen KB, Tommerup N, Jespersen B, Nygaard P, Kleif L. Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons. J Med Genet. 1986 Oct;23(5):446-51. 26. Nielsen KB. in fragile X carriers. Am J Med Genet. 1986 Jan-Feb;23(1-2):537-44. 25. Tommerup N, Aula P, Gustavii B, Heiberg A, Holmgren G, von Koskull H, Leisti J, Mikkelsen M, Mitelman F, Nielsen KB, et al. Second trimester prenatal diagnosis of the fragile X. Am J Med Genet. 1986 Jan-Feb;23(1-2):313-24. 24. Nielsen KB, Bülow S, Tommerup N. Chromosomal studies in familial polyposis coli. Cancer Genet Cytogenet. 1985 Aug;17(4):355-7. 23. Nielsen KB. [Dietary treatment of women with Følling's disease. A review of current experiences and future

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perspectives] Ugeskr Laeger. 1985 Jan 21;147(4):246-9. Danish. No abstract available. 22. Vogel F, Krüger J, Nielsen KB, Fryns JP, Schindler D, Schinzel A, Schmidt A, Schwinger E. Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome. Hum Genet. 1985;71(1):1-6. 21. Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet. 1985;69(4):289-99. 20. Davies KE, Mattei MG, Mattei JF, Veenema H, McGlade S, Harper K, Tommerup N, Nielsen KB, Mikkelsen M, Beighton P, et al. Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome). Hum Genet. 1985;70(3):249-55. 19. Jørgensen OS, Nielsen KB, Isager T, Mouridsen SE. Fragile X-chromosome among child psychiatric patients with disturbances of language and social relationships. A pilot study. Acta Psychiatr Scand. 1984 Nov;70(5):510-4. 18. Friedrich U, Horn N, Jensen PK, Lundsteen C, Mikkelsen M, Nielsen J, Nielsen KB, Petersen GB, Philip J, Rasmussen K, et al. [Spontaneous abortions and stillbirths in relation to prenatal examinations in Denmark. Report from the Cytogenetic Central Register] Ugeskr Laeger. 1984 Jun 18;146(25):1848-9. Danish. No abstract available. 17. Nielsen KB, Tommerup N. Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28. Results of folic acid treatment on fra(X) expression. Hum Genet. 1984;66(2-3):225-9. 16. Nielsen LB, Nielsen KB, Tommerup N. Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium. Prenat Diagn. 1983 Oct;3(4):367-9. 15. Nielsen KB. Diagnosis of the fragile X syndrome (Martin-Bell syndrome). Clinical findings in 27 males with the fragile site at Xq28. J Ment Defic Res. 1983 Sep;27 (Pt 3):211-26. 14. Nielsen KB, Dyggve HV, Knudsen H, Olsen J. A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies. Dan Med Bull. 1983 Feb;30(1):5-13. No abstract available. 13. Nielsen KB, Tommerup N, Poulsen H, Jacobsen P, Beck B, Mikkelsen M. Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X. Hum Genet. 1983;64(3):240-5.

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12. Nielsen KB, Langkjaer F. Inherited partial X chromosome duplication in a mentally retarded male. J Med Genet. 1982 Jun;19(3):222-4. 11. Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M. Apparent homozygosity for the fragile site at Xq28 in a normal female. Hum Genet. 1982;61(1):60-2. No abstract available. 10. Nielsen KB, Tommerup N, Dyggve HV, Schou C. Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28). Hum Genet. 1982;61(2):113-7. 9. Nielsen KB, Tommerup N. Macroorchidism, mental retardation, and the fragile X. N Engl J Med. 1981 Nov 26;305(22):1348. No abstract available. 8. Nielsen KB, Lindholt J, Tommerup N, Poulsen H, Mikkelsen M. [Mental retardation, macroorchidism and hereditary X-, fra(X) (q28). A new syndrome] Ugeskr Laeger. 1981 Jul 6;143(28):1747-51. Danish. No abstract available. 7. Nielsen KB, Tommerup N. Macroorchidism, mental retardation, and the fragile X. N Engl J Med. 1981 Nov 26;305(22):1348. No abstract available. 6. Nielsen KB, Lindholt J, Tommerup N, Poulsen H, Mikkelsen M. [Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome] Ugeskr Laeger. 1981 Jul 6;143(28):1747-51. Danish. No abstract available. 5. Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M. X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet. 1981;59(1):23-5 4. Nielsen KB, Egede F, Mouridsen I, Mohr J. Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement. J Med Genet. 1979 Dec;16(6):461-6. 3. Nielsen KB, Wamberg E. [Maternal phenylketonuria. Fölling's disease in pregnancy as the cause of congenital microcephaly and mental retardation] Ugeskr Laeger. 1979 Nov 19;141(47):3218-20. Danish. No abstract available. 2. Nielsen KB, Wamberg E, Weber J. Successful outcome of pregnancy in a phenylketonuric woman after low-phenylalanine diet introduced before conception. Lancet. 1979 Jun 9;1(8128):1245. No abstract available. 1. Nielsen KB, Dyggve H, Friedrich U, Hobolth N, Lyngbye T, Mikkelsen M. Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review

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of literature. Contribution to further delineation of a new syndrome. Hum Genet. 1978 Oct 19;44(1):59-69.

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