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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: alembik y. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. Am J Med Genet A. 2003. PMID: 14598350 Review.
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: alembik y. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13. Am J Hum Genet. 2004. PMID: 15368195 Free PMC article.
Intrachromosomal triplication for the distal part of chromosome 15q.
Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E. Schluth C, et al. Among authors: alembik y. Am J Med Genet A. 2005 Jul 15;136(2):179-84. doi: 10.1002/ajmg.a.30745. Am J Med Genet A. 2005. PMID: 15940678 Review.
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Thauvin-Robinet C, et al. Among authors: alembik y. J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672. J Med Genet. 2006. PMID: 16397067 Free PMC article.
163 results