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98 results

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Page 1
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
Prenatal phenotype of congenital hyperparathyroidism.
Spaggiari E, Bucau M, Capri Y, Belarbi N, Bekmezian A, Briffa JM, Delezoide AL, Guimiot F. Spaggiari E, et al. Among authors: capri y. Prenat Diagn. 2012 Sep;32(9):906-8. doi: 10.1002/pd.3912. Epub 2012 Jun 5. Prenat Diagn. 2012. PMID: 22674768 No abstract available.
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
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Al Ageeli E, Drunat S, Delanoë C, Perrin L, Baumann C, Capri Y, Fabre-Teste J, Aboura A, Dupont C, Auvin S, El Khattabi L, Chantereau D, Moncla A, Tabet AC, Verloes A. Al Ageeli E, et al. Among authors: capri y. Eur J Med Genet. 2014 Jan;57(1):5-14. doi: 10.1016/j.ejmg.2013.10.008. Epub 2013 Nov 12. Eur J Med Genet. 2014. PMID: 24239951
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. El Khattabi L, et al. Among authors: capri y. Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847481 Free article. Review.
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: capri y. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: capri y. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
98 results