Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

由 Bhangoo, Amrit, Paris, Francoise, Philibert, Pascal, Audran, Francoise, Ten, Svetlana, Sultan, Charles
出版 2010

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

由 Philibert, Pascal, Zenaty, Delphine, Lin, Lin, Soskin, Sylvie, Audran, Françoise, Léger, Juliane, Achermann, John C., Sultan, Charles
出版 2007

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

由 Kalfa, Nicolas, Fukami, Maki, Philibert, Pascal, Audran, Francoise, Pienkowski, Catherine, Weill, Jacques, Pinto, Graziella, Manouvrier, Sylvie, Polak, Michel, Ogata, Totsumo, Sultan, Charles
出版 2012

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

由 Servant Nadège, Raingeard Isabelle, Lespinasse James, Frances Anne-Marie, Polak Michel, Thibaud Elisabeth, Zenaty Delphine, Leprieur Elodie, Philibert Pascal, Audran Françoise, Paris Françoise, Sultan Charles
出版 2010-03-01

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

由 Philibert, Pascal, Leprieur, Elodie, Zenaty, Delphine, Thibaud, Elisabeth, Polak, Michel, Frances, Anne-Marie, Lespinasse, James, Raingeard, Isabelle, Servant, Nadège, Audran, Françoise, Paris, Françoise, Sultan, Charles
出版 2010

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

由 Kalfa, Nicolas, Philibert, Pascal, Werner, Ralf, Audran, Françoise, Bashamboo, Anu, Lehors, Hélène, Haddad, Myriam, Guys, Jean Michel, Reynaud, Rachel, Alessandrini, Pierre, Wagner, Kathy, Kurzenne, Jean Yves, Bastiani, Florence, Bréaud, Jean, Valla, Jean Stéphane, Lacombe, Gérard Morisson, Orsini, Mattea, Daures, Jean-Pierre, Hiort, Olaf, Paris, Françoise, McElreavey, Kenneth, Sultan, Charles
出版 2013