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Page 1
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. Mosca-Boidron AL, et al. Among authors: goubran botros h. Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395558 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: goubran botros h. Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub 2006 Dec 17. Nat Genet. 2007. PMID: 17173049 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: goubran botros h. BMC Med Genet. 2009 Jan 23;10:7. doi: 10.1186/1471-2350-10-7. BMC Med Genet. 2009. PMID: 19166581 Free PMC article.
Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders.
Pagan C, Goubran-Botros H, Delorme R, Benabou M, Lemière N, Murray K, Amsellem F, Callebert J, Chaste P, Jamain S, Fauchereau F, Huguet G, Maronde E, Leboyer M, Launay JM, Bourgeron T. Pagan C, et al. Among authors: goubran botros h. Sci Rep. 2017 May 18;7(1):2096. doi: 10.1038/s41598-017-02152-x. Sci Rep. 2017. PMID: 28522826 Free PMC article.
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations.
Gouder L, Vitrac A, Goubran-Botros H, Danckaert A, Tinevez JY, André-Leroux G, Atanasova E, Lemière N, Biton A, Leblond CS, Poulet A, Boland A, Deleuze JF, Benchoua A, Delorme R, Bourgeron T, Cloëz-Tayarani I. Gouder L, et al. Among authors: goubran botros h. Sci Rep. 2019 Jan 14;9(1):94. doi: 10.1038/s41598-018-36993-x. Sci Rep. 2019. PMID: 30643170 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: goubran botros h. 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.
Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.
Etain B, Dumaine A, Bellivier F, Pagan C, Francelle L, Goubran-Botros H, Moreno S, Deshommes J, Moustafa K, Le Dudal K, Mathieu F, Henry C, Kahn JP, Launay JM, Mühleisen TW, Cichon S, Bourgeron T, Leboyer M, Jamain S. Etain B, et al. Among authors: goubran botros h. Hum Mol Genet. 2012 Sep 15;21(18):4030-7. doi: 10.1093/hmg/dds227. Epub 2012 Jun 13. Hum Mol Genet. 2012. PMID: 22694957
The serotonin-N-acetylserotonin-melatonin pathway as a biomarker for autism spectrum disorders.
Pagan C, Delorme R, Callebert J, Goubran-Botros H, Amsellem F, Drouot X, Boudebesse C, Le Dudal K, Ngo-Nguyen N, Laouamri H, Gillberg C, Leboyer M, Bourgeron T, Launay JM. Pagan C, et al. Among authors: goubran botros h. Transl Psychiatry. 2014 Nov 11;4(11):e479. doi: 10.1038/tp.2014.120. Transl Psychiatry. 2014. PMID: 25386956 Free PMC article.
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