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46 July 2009 Volume 46 Issue 7 Journal of Medical Genetics 7 Volume 46 Issue 7 Pages 425–496

Contents July 2009 Volume 46 Issue 7 J Med Genet: first published as on 1 July 2009. Downloaded from Original articles Letters to JMG 425 SPRED1 germline mutations caused 458 Molecular analyses of the LRRK2 in a neurofibromatosis type 1 overlapping European and North African autosomal phenotype E Pasmant, A Sabbagh, N Hanna, dominant Parkinson’s disease S Lesage, J Masliah-Planchon, E Jolly, P Goussard, C Condroyer, A Lannuzel, E Lohmann, A Troiano, P Ballerini, F Cartault, S Barbarot, F Tison, P Damier, S Thobois, J Landman-Parker, N Soufir, B Parfait, M Vidaud, A-M Ouvrard-Hernandez, S Rivaud-Péchoux, P Wolkenstein, D Vidaud, R N F France C Brefel-Courbon, A Destée, C Tranchant, 431 SPRED1 mutations (Legius syndrome): another M Romana, L Leclere, A Dürr, A Brice, for the clinically useful genotype for dissecting the French Parkinson’s Disease Genetics Study Group neurofibromatosis type 1 phenotype G Spurlock, 465 TSC1 and TSC2 mutations in patients with JMGJOURNAL OF MEDICAL GENETICS E Bennett, N Chuzhanova, N Thomas, H-Ping Jim, lymphangioleiomyomatosis and tuberous L Side, S Davies, E Haan, B Kerr, S M Huson, sclerosis complex D A Muzykewicz, A Sharma, M Upadhyaya V Muse, A L Numis, J Rajagopal, E A Thiele 438 Wild-type but not mutant huntingtin modulates 469 The effect of the MHC locus on autoantibodies the transcriptional activity of liver X receptors in type 1 diabetes H-Q Qu, C Polychronakos ORA FMDCLGENETICS MEDICAL OF JOURNAL M Futter, H Diekmann, E Schoenmakers, O Sadiq, 472 Genome-wide linkage scan for plasma high K Chatterjee, D C Rubinsztein density lipoprotein cholesterol, apolipoprotein

447 The high frequency of complement factor H A-1 and triglyceride variation among American http://jmg.bmj.com/ related CFHR1 gene deletion is restricted to Indian populations: the Strong Heart Family specific subgroups of patients with atypical Study X Li, K L Monda, H H H Göring, K Haack, haemolytic uraemic syndrome S A Cole, V P Diego, L Almasy, S Laston, M-A Dragon-Durey, C Blanc, F Marliot, C Loirat, B V Howard, N M Shara, E T Lee, L G Best, J Blouin, C Sautes-Fridman, W H Fridman, R R Fabsitz, J W MacCluer, Kari E North V Frémeaux-Bacchi 480 Phenotypic expansion and further on October 2, 2021 by guest. Protected copyright. characterisation of the 17q21.31 microdeletion syndrome T Y Tan, S Aftimos, L Worgan, Short reports R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, 451 A genome-wide association study identifies a J B Moeschler, J Ozmore, R Widmer, R Savarirayan, novel locus on 18q12.2 G Peters This article has been chosen by the Editor to influencing white cell telomere length be of special interest or importance and is M Mangino, J B Richards, N Soranzo, G Zhai, freely available online. Mutation report A Aviv, A M Valdes, N J Samani, P Deloukas, Articles carrying the Unlocked Logo are freely 490 New surfactant C gene mutations T D Spector available online under the BMJ Journals associated with diffuse lung disease L Guillot, unlocked scheme. See http://jmg.bmj.com/info/unlocked.dtl 455 Functional evidence implicating FOXL2 in non- R Epaud, G Thouvenin, L Jonard, A Mohsni, syndromic premature ovarian failure and in the R Couderc, F Counil, J de Blic, R A Taam, regulation of the transcription factor OSR2 M Le Bourgeois, P Reix, F Flamein, A Clement, P Laissue, B Lakhal, B A Benayoun, D Feldmann This journal is a member of and subscribes to the principles of the Committee on Publication A Dipietromaria, R Braham, H Elghezal, Ethics P Philibert, A Saâd, C Sultan, M Fellous, PostScript www.publicationethics.org.uk R A Veitia 495 Correspondence July 2009

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