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Page 1
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T. Leblond CS, et al. Among authors: gillberg ic. PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25188300 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: gillberg c, gillberg ic. Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub 2006 Dec 17. Nat Genet. 2007. PMID: 17173049 Free PMC article.
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T. Konyukh M, et al. Among authors: gillberg c, gillberg ic. PLoS One. 2011 Mar 4;6(3):e17289. doi: 10.1371/journal.pone.0017289. PLoS One. 2011. PMID: 21394203 Free PMC article.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. Leblond CS, et al. Among authors: gillberg c, gillberg ic. PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. PLoS Genet. 2012. PMID: 22346768 Free PMC article.
Heterozygous FA2H mutations in autism spectrum disorders.
Scheid I, Maruani A, Huguet G, Leblond CS, Nygren G, Anckarsäter H, Beggiato A, Rastam M, Amsellem F, Gillberg IC, Elmaleh M, Leboyer M, Gillberg C, Betancur C, Coleman M, Hama H, Cook EH, Bourgeron T, Delorme R. Scheid I, et al. Among authors: gillberg ic. BMC Med Genet. 2013 Dec 3;14:124. doi: 10.1186/1471-2350-14-124. BMC Med Genet. 2013. PMID: 24299421 Free PMC article.
Analysis of X chromosome inactivation in autism spectrum disorders.
Gong X, Bacchelli E, Blasi F, Toma C, Betancur C, Chaste P, Delorme R, Durand CM, Fauchereau F, Botros HG, Leboyer M, Mouren-Simeoni MC, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Gillberg C, Moreno-De-Luca D, Carone S, Nummela I, Rossi M, Battaglia A; International Molecular Genetic Study of Autism Consortium (IMGSAC); Jarvela I, Maestrini E, Bourgeron T. Gong X, et al. Among authors: gillberg c, gillberg ic. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):830-5. doi: 10.1002/ajmg.b.30688. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18361425 Free PMC article.
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
Gong X, Delorme R, Fauchereau F, Durand CM, Chaste P, Betancur C, Goubran-Botros H, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Kopp S, Mouren-Simeoni MC, Gillberg C, Leboyer M, Bourgeron T. Gong X, et al. Among authors: gillberg c, gillberg ic. BMC Med Genet. 2009 Jan 23;10:7. doi: 10.1186/1471-2350-10-7. BMC Med Genet. 2009. PMID: 19166581 Free PMC article.
Abnormal melatonin synthesis in autism spectrum disorders.
Melke J, Goubran Botros H, Chaste P, Betancur C, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg IC, Delorme R, Chabane N, Mouren-Simeoni MC, Fauchereau F, Durand CM, Chevalier F, Drouot X, Collet C, Launay JM, Leboyer M, Gillberg C, Bourgeron T. Melke J, et al. Among authors: gillberg c, gillberg ic. Mol Psychiatry. 2008 Jan;13(1):90-8. doi: 10.1038/sj.mp.4002016. Epub 2007 May 15. Mol Psychiatry. 2008. PMID: 17505466 Free PMC article.
76 results