Isabelle Creveaux

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 364 citations · Full text

Genetics, Databases, Diagnosis +26

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations

SCO-spondin: a new member of the thrombospondin family secreted by the subcommissural organ is a candidate in the modulation of neuronal aggregation

Stéphane Gobron, Hubert Monnerie, R Meiniel et al. · Journal of Cell Science · 1996 · 131 citations

Subcommissural organ/Reissner's fiber complex: Characterization of SCO-spondin, a glycoprotein with potent activity on neurite outgrowth

Stéphane Gobron, Isabelle Creveaux, R Meiniel et al. · Glia · 2000 · 86 citations · Full text

B 104, Sclerostin, Amino Acids +18

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X‐inactivation pattern

Gérard Tachdjian, A. Aboura, Moncef Benkhalifa et al. · American Journal of Medical Genetics Part A · 2004 · 82 citations

Interstitial Direct Duplication, Cytogenetics, Genetics +16