SUN-017 Impact of Steroid Precursors and Minor Metabolites Quantified by LC-MS-MS on Salt Wasting in 21-Hydroxylase Deficient Patients

por Travers Allard, Simon, Bouvattier, Claire, Fagart, Jerome, Martinerie, Laetitia, Viengchareun, Say, Pussard, Eric, Lombes, Marc
Publicado 2019

HuR-Dependent Editing of a New Mineralocorticoid Receptor Splice Variant Reveals an Osmoregulatory Loop for Sodium Homeostasis

por Lema, Ingrid, Amazit, Larbi, Lamribet, Khadija, Fagart, Jérôme, Blanchard, Anne, Lombès, Marc, Cherradi, Nadia, Viengchareun, Say
Publicado 2017

OR11-03 A Novel Mutation In The Ligand-binding Domain Of The NR3C1 Gene Associated With Fluctuating Resistance To Glucocorticoids

por Laulhé, Margaux, Kuhn, Emmanuelle, Bouligand, Jerome, Amazit, Larbi, Perrot, Julie, Kamenicky, Peter, Lombes, Marc, Fagart, Jerome, Viengchareun, Say, Martinerie, Laetitia
Publicado 2023

Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Nov...

por Brioude, Frédéric, Bouligand, Jérôme, Francou, Bruno, Fagart, Jérôme, Roussel, Ronan, Viengchareun, Say, Combettes, Laurent, Brailly-Tabard, Sylvie, Lombès, Marc, Young, Jacques, Guiochon-Mantel, Anne
Publicado 2013

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

por Francou, Bruno, Bouligand, Jérôme, Voican, Adela, Amazit, Larbi, Trabado, Séverine, Fagart, Jérôme, Meduri, Geri, Brailly-Tabard, Sylvie, Chanson, Philippe, Lecomte, Pierre, Guiochon-Mantel, Anne, Young, Jacques
Publicado 2011