Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

by Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan
Published 2012-01-01

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation.

by Céline Bar, Charline Zadro, Gwenaelle Diene, Isabelle Oliver, Catherine Pienkowski, Béatrice Jouret, Audrey Cartault, Zeina Ajaltouni, Jean-Pierre Salles, Annick Sevely, Maithé Tauber, Thomas Edouard
Published 2015-01-01

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

by Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler, on behalf of the dsd-LIFE group
Published 2017-08-01