Pascal Philibert

Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Mullerian Duct Abnormalities: A French Collaborative Study

Pascal Philibert, Anna Biason‐Lauber, Roman Rouzier et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 225 citations · Full text

Medicine, Endocrinology, Genetics +17

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Laurent Maı̈moun, Pascal Philibert, B. Cammas et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 213 citations

Medicine, Endocrinology, Genetics +17

Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function

Lin Lin, Pascal Philibert, Bruno Ferraz‐de‐Souza et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 209 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

Pascal Philibert, Delphine Zénaty, Lin Lin et al. · Human Reproduction · 2007 · 155 citations · Full text

Medicine, Endocrinology, Genetics +17

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)

Pascal Philibert, Anna Biason‐Lauber, Iva Gueorguieva et al. · Fertility and Sterility · 2011 · 136 citations · Full text

Medicine, Endocrinology, Genetics +12