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210 results

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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. Dagoneau N, et al. Among authors: genevieve d. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016. Am J Hum Genet. 2009. PMID: 19442771 Free PMC article.
Septo-optic dysplasia and digital anomalies: another observation.
Faivre L, Amiel J, Ouachée-Chardin M, Geneviève D, Munnich A, Cormier-Daire V, Monceaux F, Teillac D. Faivre L, et al. Among authors: genevieve d. Am J Med Genet. 2002 Mar 15;108(3):247-8. doi: 10.1002/ajmg.10267. Am J Med Genet. 2002. PMID: 11891695 No abstract available.
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. Faivre L, et al. Among authors: genevieve d. J Med Genet. 2002 Aug;39(8):594-6. doi: 10.1136/jmg.39.8.594. J Med Genet. 2002. PMID: 12161602 Free PMC article. No abstract available.
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Genevieve D, et al. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. doi: 10.1002/ajmg.a.10877. Am J Med Genet A. 2003. PMID: 12476459 Review.
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Among authors: genevieve d. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753
210 results