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210 results

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Page 1
A CGH study of 27 patients with CHARGE association.
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. Sanlaville D, et al. Among authors: genevieve d. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088
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.
New insights in congenital bowing of the femora.
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M. Cormier-Daire V, et al. Among authors: genevieve d. Clin Genet. 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x. Clin Genet. 2004. PMID: 15324311 Review.
Functional disomy of the Xq28 chromosome region.
Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: genevieve d. Eur J Hum Genet. 2005 May;13(5):579-85. doi: 10.1038/sj.ejhg.5201384. Eur J Hum Genet. 2005. PMID: 15741994 Review.
210 results