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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: capri y. 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.
A familial syndromal form of omphalocele.
Port-Lis M, Leroy C, Manouvrier S, Escande F, Passemard S, Perrin L, Capri Y, Gérard B, Verloes A. Port-Lis M, et al. Among authors: capri y. Eur J Med Genet. 2011 May-Jun;54(3):337-40. doi: 10.1016/j.ejmg.2011.02.001. Epub 2011 Feb 17. Eur J Med Genet. 2011. PMID: 21333766
A new lysosomal storage disorder resembling Morquio syndrome in sibs.
Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A. Perrin L, et al. Among authors: capri y. Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22330346
Pseudoaminopterin syndrome.
Kraoua L, Capri Y, Perrin L, Benmansour A, Verloes A. Kraoua L, et al. Among authors: capri y. Am J Med Genet A. 2012 Sep;158A(9):2233-8. doi: 10.1002/ajmg.a.35212. Epub 2012 Jul 18. Am J Med Genet A. 2012. PMID: 22811276
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gérard M. Rambaud J, et al. Among authors: capri y. Am J Med Genet A. 2012 Sep;158A(9):2277-82. doi: 10.1002/ajmg.a.35494. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821638
94 results