Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis

Autor Bhangoo, Amrit, Paris, Francoise, Philibert, Pascal, Audran, Francoise, Ten, Svetlana, Sultan, Charles
Vydáno 2010

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

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

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

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

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

Autor 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
Vydáno 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

Autor 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
Vydáno 2010

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

Autor 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
Vydáno 2013