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Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium; Rouleau GA, Majewski J, Michaud JL. Srour M, et al. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25. J Med Genet. 2012. PMID: 23012439
Array comparative genomic hybridization in global developmental delay.
Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer LG. Shevell MI, et al. Among authors: srour m. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1101-8. doi: 10.1002/ajmg.b.30730. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18361433
Genome-wide TDT analysis in French-Canadian families with Tourette syndrome.
Rivière JB, St-Onge J, Gaspar C, Diab S, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Dubé MP, Rouleau GA; Montreal Tourette Study Group. Rivière JB, et al. Can J Neurol Sci. 2010 Jan;37(1):110-2. doi: 10.1017/s0317167100009744. Can J Neurol Sci. 2010. PMID: 20169783 No abstract available.
Mutations in DCC cause congenital mirror movements.
Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA. Srour M, et al. Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463. Science. 2010. PMID: 20431009
DOK7 mutations presenting as a proximal myopathy in French Canadians.
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. Srour M, et al. Neuromuscul Disord. 2010 Jul;20(7):453-7. doi: 10.1016/j.nmd.2010.05.007. Epub 2010 Jun 17. Neuromuscul Disord. 2010. PMID: 20610155
271 results