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The Journal of Clinical Endocrinology and Metabolism|January 4, 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal functionLin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, et al.
Fertility and Sterility|May 26, 2009
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutationsPascal Philibert, Françoise Audran, Catherine Pienkowski, et al.
The Journal of Urology|May 4, 2018
Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 FamiliesMargot Ollivier, Francoise Paris, Pascal Philibert, et al.
Plos One|May 3, 2013
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndromeNicolas Kalfa, Pascal Philibert, Ralf Werner, et al.
European Urology|May 27, 2015
Is Hypospadias Associated with Prenatal Exposure to Endocrine Disruptors? A French Collaborative Controlled Study of a Cohort of 300 Consecutive Children Without Genetic DefectNicolas Kalfa, Françoise Paris, Pascal Philibert, et al.
The Journal of Clinical Endocrinology and Metabolism|December 15, 2010
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patientsLaurent Maimoun, Pascal Philibert, Benoit Cammas, et al.
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