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Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T. Vitrac A, et al. Among authors: bourgeron t. Eur J Med Genet. 2023 May;66(5):104732. doi: 10.1016/j.ejmg.2023.104732. Epub 2023 Feb 21. Eur J Med Genet. 2023. PMID: 36822569 Free article. Review.
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: bourgeron t. 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.
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: bourgeron t. Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub 2006 Dec 17. Nat Genet. 2007. PMID: 17173049 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: bourgeron t. 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: bourgeron t. BMC Med Genet. 2009 Jan 23;10:7. doi: 10.1186/1471-2350-10-7. BMC Med Genet. 2009. PMID: 19166581 Free PMC article.
Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele.
Delorme R, Betancur C, Chaste P, Kernéis S, Stopin A, Mouren MC, Collet C, Bourgeron T, Leboyer M, Launay JM. Delorme R, et al. Among authors: bourgeron t. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):542-548. doi: 10.1002/ajmg.b.31016. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19676096 Free PMC article.
[Autism: more evidence of a genetic cause].
Bourgeron T, Leboyer M, Delorme R. Bourgeron T, et al. Bull Acad Natl Med. 2009 Feb;193(2):299-304; discussion 304-5. Bull Acad Natl Med. 2009. PMID: 19718887 French.
Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.
Delorme R, Betancur C, Scheid I, Anckarsäter H, Chaste P, Jamain S, Schuroff F, Nygren G, Herbrecht E, Dumaine A, Mouren MC, Råstam M, Leboyer M, Gillberg C, Bourgeron T. Delorme R, et al. Among authors: bourgeron t. BMC Med Genet. 2010 Jul 5;11:108. doi: 10.1186/1471-2350-11-108. BMC Med Genet. 2010. PMID: 20602773 Free PMC article.
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.
Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, Coleman M, Leboyer M, Gillberg C, Bourgeron T. Toro R, et al. Among authors: bourgeron t. Trends Genet. 2010 Aug;26(8):363-72. doi: 10.1016/j.tig.2010.05.007. Epub 2010 Jul 6. Trends Genet. 2010. PMID: 20609491 Free article. Review.
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
Chaste P, Clement N, Mercati O, Guillaume JL, Delorme R, Botros HG, Pagan C, Périvier S, Scheid I, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg C, Serrano E, Lemière N, Launay JM, Mouren-Simeoni MC, Leboyer M, Gillberg C, Jockers R, Bourgeron T. Chaste P, et al. Among authors: bourgeron t. PLoS One. 2010 Jul 15;5(7):e11495. doi: 10.1371/journal.pone.0011495. PLoS One. 2010. PMID: 20657642 Free PMC article.
237 results