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Clinical stringency greatly improves mutation detection in Rett syndrome.
Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA. Gauthier J, et al. Can J Neurol Sci. 2005 Aug;32(3):321-6. doi: 10.1017/s0317167100004200. Can J Neurol Sci. 2005. PMID: 16225173
Sleep and COMT polymorphism in ADHD children: preliminary actigraphic data.
Gruber R, Grizenko N, Schwartz G, Ben Amor L, Gauthier J, de Guzman R, Joober R. Gruber R, et al. Among authors: gauthier j. J Am Acad Child Adolesc Psychiatry. 2006 Aug;45(8):982-989. doi: 10.1097/01.chi.0000220848.48650.10. J Am Acad Child Adolesc Psychiatry. 2006. PMID: 16865041 Clinical Trial.
Novel de novo SHANK3 mutation in autistic patients.
Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Gauthier J, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18615476
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF; S2D team; Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. Piton A, et al. Among authors: gauthier j. Hum Mol Genet. 2008 Dec 15;17(24):3965-74. doi: 10.1093/hmg/ddn300. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801879
912 results