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

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

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

od 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
Izdano 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

od 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
Izdano 2010

Mutations in BOREALIN cause thyroid dysgenesis

od 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
Izdano u Hum Mol Genet (2017)