Pascal Philibert
Université de Montpellier(FR)Centre Hospitalier Universitaire de Nîmes(FR)Institut de Génétique Humaine(FR)
Publications by Year
Research Areas
Sexual Differentiation and Disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Urological Disorders and Treatments, Hormonal and reproductive studies, Reproductive Biology and Fertility
Most-Cited Works
- → 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(2008)225 cited
- → Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients(2010)210 cited
- → Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function(2007)209 cited
- → Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study(2007)155 cited
- → Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings(2009)140 cited
- → Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)