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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. Nambot S, et al. Among authors: charollais a. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. Eur J Hum Genet. 2020. PMID: 32005960 Free PMC article. Review.
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L. Moutton S, et al. Among authors: charollais a. Clin Genet. 2018 Jun;93(6):1172-1178. doi: 10.1111/cge.13243. Epub 2018 Apr 14. Clin Genet. 2018. PMID: 29460436
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D. Le Meur N, et al. Among authors: charollais a. J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592390 Free PMC article.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH. Dias C, et al. Among authors: charollais a. Am J Med Genet A. 2021 Aug;185(8):2384-2390. doi: 10.1002/ajmg.a.62254. Epub 2021 May 18. Am J Med Genet A. 2021. PMID: 34003604 Free PMC article.
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE. Chantret I, et al. Among authors: charollais a. J Biol Chem. 2002 Jul 12;277(28):25815-22. doi: 10.1074/jbc.M203285200. Epub 2002 Apr 30. J Biol Chem. 2002. PMID: 11983712 Free article.
[Epilepsy presenting as life-threatening events in infants].
Heissessen L, Dusser A, Nouirygat V, Navelet Y, Charollais A, Husson B, Landrieu P. Heissessen L, et al. Among authors: charollais a. Arch Pediatr. 2000 Sep;7(9):955-60. doi: 10.1016/s0929-693x(00)90010-1. Arch Pediatr. 2000. PMID: 11028203 French.
Obstetrical and neonatal characteristics vary with birthweight in a cohort of 100 term newborns with symptomatic arterial ischemic stroke.
Chabrier S, Saliba E, Nguyen The Tich S, Charollais A, Varlet MN, Tardy B, Presles E, Renaud C, Allard D, Husson B, Landrieu P. Chabrier S, et al. Among authors: charollais a. Eur J Paediatr Neurol. 2010 May;14(3):206-13. doi: 10.1016/j.ejpn.2009.05.004. Epub 2009 Jun 21. Eur J Paediatr Neurol. 2010. PMID: 19541515 Free article.
60 results