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Page 1
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M. Accogli A, et al. Among authors: sebire g. Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28. Neurogenetics. 2019. PMID: 30924036
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. Chilton I, et al. Among authors: sebire g. Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7. Am J Med Genet A. 2020. PMID: 32031333
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium; Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Among authors: sebire g. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25. J Med Genet. 2012. PMID: 23012439
Polymicrogyria in chromosome 22q11 deletion syndrome.
Ghariani S, Dahan K, Saint-Martin C, Kadhim H, Morsomme F, Moniotte S, Verellen-Dumoulin C, Sébire G. Ghariani S, et al. Among authors: sebire g. Eur J Paediatr Neurol. 2002;6(1):73-7. doi: 10.1053/ejpn.2001.0544. Eur J Paediatr Neurol. 2002. PMID: 11993959
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.
Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G. Mirchi A, et al. Among authors: sebire g. Pediatr Neurol. 2018 Jul;84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9. Pediatr Neurol. 2018. PMID: 29859719 Free article.
165 results