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Opitz GBBB syndrome: chromosomal evidence of an X-linked form.
Verloes A, David A, Odent S, Toutain A, André MJ, Lucas J, Le Marec B. Verloes A, et al. Among authors: david a. Am J Med Genet. 1995 Oct 23;59(1):123-8. doi: 10.1002/ajmg.1320590124. Am J Med Genet. 1995. PMID: 8849003
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D. Bonnet C, et al. Among authors: david a. J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902. J Med Genet. 2010. PMID: 20522426
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.
Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe HJ, Hernandez A, Krakow D, Le Caignec C. Winer N, et al. Among authors: david a. Prenat Diagn. 2009 Feb;29(2):172-4. doi: 10.1002/pd.2164. Prenat Diagn. 2009. PMID: 19085972 Free PMC article. No abstract available.
3,454 results