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

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

Mutations in BOREALIN cause thyroid dysgenesis

Autor Carré, Aurore, Stoupa, Athanasia, Kariyawasam, Dulanjalee, Gueriouz, Manelle, Ramond, Cyrille, Monus, Taylor, Léger, Juliane, Gaujoux, Sébastien, Sebag, Frédéric, Glaser, Nicolas, Zenaty, Delphine, Nitschke, Patrick, Bole-Feysot, Christine, Hubert, Laurence, Lyonnet, Stanislas, Scharfmann, Raphaël, Munnich, Arnold, Besmond, Claude, Taylor, William, Polak, Michel
Vydáno v Hum Mol Genet (2017)