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Page 1
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: vuillaume ml. NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019. NPJ Genom Med. 2019. PMID: 31285849 Free PMC article.
SCA27 is a cause of early-onset ataxia and developmental delay.
Planes M, Rooryck C, Vuillaume ML, Besnard L, Bouron J, Lacombe D, Arveiler B, Goizet C. Planes M, et al. Among authors: vuillaume ml. Eur J Paediatr Neurol. 2015 Mar;19(2):271-3. doi: 10.1016/j.ejpn.2014.11.013. Epub 2014 Dec 5. Eur J Paediatr Neurol. 2015. PMID: 25530029 No abstract available.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: vuillaume ml. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: vuillaume ml. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263841 Free PMC article.
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A. Le Caignec C, et al. Among authors: vuillaume ml. Eur J Hum Genet. 2020 Mar;28(3):324-332. doi: 10.1038/s41431-019-0522-2. Epub 2019 Oct 7. Eur J Hum Genet. 2020. PMID: 31591517 Free PMC article.
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C. Vuillaume ML, et al. Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782328
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A. Vuillaume ML, et al. Ann Neurol. 2018 Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. Ann Neurol. 2018. PMID: 29369404 Free article. No abstract available.
33 results