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Page 1
Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Rensha… See abstract for full author list ➔ Pinto D, et al. Among authors: leboyer m. Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9. Nature. 2010. PMID: 20531469 Free PMC article.
[Genetics of autism: from genome scans to candidate genes].
Jamain S, Betancur C, Giros B, Leboyer M, Bourgeron T. Jamain S, et al. Among authors: leboyer m. Med Sci (Paris). 2003 Nov;19(11):1081-90. doi: 10.1051/medsci/200319111081. Med Sci (Paris). 2003. PMID: 14648479 Free article. Review. French.
Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.
Durand CM, Kappeler C, Betancur C, Delorme R, Quach H, Goubran-Botros H, Melke J, Nygren G, Chabane N, Bellivier F, Szoke A, Schurhoff F, Rastam M, Anckarsäter H, Gillberg C, Leboyer M, Bourgeron T. Durand CM, et al. Among authors: leboyer m. Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):67-70. doi: 10.1002/ajmg.b.30229. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16331680 Free PMC article.
No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects.
Delorme R, Durand CM, Betancur C, Wagner M, Ruhrmann S, Grabe HJ, Nygren G, Gillberg C, Leboyer M, Bourgeron T, Courtet P, Jollant F, Buresi C, Aubry JM, Baud P, Bondolfi G, Bertschy G, Perroud N, Malafosse A. Delorme R, et al. Among authors: leboyer m. Biol Psychiatry. 2006 Jul 15;60(2):202-3. doi: 10.1016/j.biopsych.2005.12.014. Epub 2006 Apr 11. Biol Psychiatry. 2006. PMID: 16581035
Mutation screening of the ARX gene in patients with autism.
Chaste P, Nygren G, Anckarsäter H, Råstam M, Coleman M, Leboyer M, Gillberg C, Betancur C. Chaste P, et al. Among authors: leboyer m. Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):228-30. doi: 10.1002/ajmg.b.30440. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17044103 Free PMC article.
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsäter H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Rogé B, Héron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T. Durand CM, et al. Among authors: leboyer m. Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub 2006 Dec 17. Nat Genet. 2007. PMID: 17173049 Free PMC article.
861 results