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Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N. Vegas N, et al. Among authors: bery a. Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27. Eur J Med Genet. 2018. PMID: 30268909
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N. Vegas N, et al. Among authors: bery a. Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533527 Free PMC article.
XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors.
Bery A, Etienne O, Mouton L, Mokrani S, Granotier-Beckers C, Gauthier LR, Feat-Vetel J, Kortulewski T, Pérès EA, Desmaze C, Lestaveal P, Barroca V, Laugeray A, Boumezbeur F, Abramovski V, Mortaud S, Menuet A, Le Bihan D, Villartay JP, Boussin FD. Bery A, et al. Cell Rep. 2023 Apr 25;42(4):112342. doi: 10.1016/j.celrep.2023.112342. Epub 2023 Apr 6. Cell Rep. 2023. PMID: 37027298 Free article.
79 results