FAP in India: a first genetically proven case

par Pan, Daniel, Bouligand, Jérôme, Guiochon-Mantel, Anne, Adams, David
Publié dans Orphanet J Rare Dis (2015)

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

par Sarfati, Julie, Bouvattier, Claire, Bry-Gauillard, Hélène, Cartes, Alejandra, Bouligand, Jérôme, Young, Jacques
Publié dans Orphanet J Rare Dis (2015)

Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

par Tello, Javier A., Newton, Claire L., Bouligand, Jerome, Guiochon-Mantel, Anne, Millar, Robert P., Young, Jacques
Publié 2012

Functional Characterization of Glucocorticoid Receptor Variants Is Required to Avoid Misinterpretation of NGS Data

par Foussier, Loïc, Vitellius, Géraldine, Bouligand, Jérôme, Amazit, Larbi, Bouvattier, Claire, Young, Jacques, Trabado, Séverine, Lombès, Marc
Publié dans J Endocr Soc (2019)

Identification by high-throughput sequencing of HPV variants and quasispecies that are untypeable by linear reverse blotting assay in cervical specimens

par Molet, Lucie, Girlich, Delphine, Bonnin, Rémy A., Proust, Alexis, Bouligand, Jérôme, Bachelerie, Françoise, Hantz, Sébastien, Deback, Claire
Publié dans Papillomavirus Res (2019)

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

par Vizeneux, Audrey, Hilfiger, Aude, Bouligand, Jérôme, Pouillot, Monique, Brailly-Tabard, Sylvie, Bashamboo, Anu, McElreavey, Ken, Brauner, Raja
Publié 2013

Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications

par Young, Jacques, George, Jyothis T., Tello, Javier A., Francou, Bruno, Bouligand, Jerome, Guiochon-Mantel, Anne, Brailly-Tabard, Sylvie, Anderson, Richard A., Millar, Robert P.
Publié 2013

Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

par Bouligand, Jérôme, Delemer, Brigitte, Hecart, Annie-Claude, Meduri, Geri, Viengchareun, Say, Amazit, Larbi, Trabado, Séverine, Fève, Bruno, Guiochon-Mantel, Anne, Young, Jacques, Lombès, Marc
Publié 2010

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

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

SAT-010 Non-Classic POR Deficiency as a Cause of Menstrual Disorders & Infertility

par Papadakis, Georgios E, Dumont, Agathe, Bouligand, Jerome, Chasseloup, Fanny, Raggi, Anna, Catteau-Jonard, Sophie, Boute-Benejean, Odile, Pitteloud, Nelly, Young, Jacques, Dewailly, Didier R
Publié dans J Endocr Soc (2020)

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

par 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
Publié 2011

R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

par Maione, Luigi, Albarel, Frederique, Bouchard, Philippe, Gallant, Megan, Flanagan, Colleen A., Bobe, Regis, Cohen-Tannoudji, Joelle, Pivonello, Rosario, Colao, Annamaria, Brue, Thierry, Millar, Robert P., Lombes, Marc, Young, Jacques, Guiochon-Mantel, Anne, Bouligand, Jerome
Publié 2013

Correction: R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

par Maione, Luigi, Albarel, Frederique, Bouchard, Philippe, Gallant, Megan, Flanagan, Colleen A., Bobe, Regis, Cohen-Tannoudji, Joelle, Pivonello, Rosario, Colao, Annamaria, Brue, Thierry, Millar, Robert P., Lombes, Marc, Young, Jacques, Guiochon-Mantel, Anne, Bouligand, Jerome
Publié 2013

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

par Descatoire, Marc, Weller, Sandra, Irtan, Sabine, Sarnacki, Sabine, Feuillard, Jean, Storck, Sébastien, Guiochon-Mantel, Anne, Bouligand, Jérôme, Morali, Alain, Cohen, Joseph, Jacquemin, Emmanuel, Iascone, Maria, Bole-Feysot, Christine, Cagnard, Nicolas, Weill, Jean-Claude, Reynaud, Claude-Agnès
Publié 2014

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

par Descatoire, Marc, Weller, Sandra, Irtan, Sabine, Sarnacki, Sabine, Feuillard, Jean, Storck, Sébastien, Guiochon-Mantel, Anne, Bouligand, Jérôme, Morali, Alain, Cohen, Joseph, Jacquemin, Emmanuel, Iascone, Maria, Bole-Feysot, Christine, Cagnard, Nicolas, Weill, Jean-Claude, Reynaud, Claude-Agnès
Publié 2014

Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing’s syndrome

par Lecoq, Anne-Lise, Stratakis, Constantine A., Viengchareun, Say, Chaligné, Ronan, Tosca, Lucie, Deméocq, Vianney, Hage, Mirella, Berthon, Annabel, Faucz, Fabio R., Hanna, Patrick, Boyer, Hadrien-Gaël, Servant, Nicolas, Salenave, Sylvie, Tachdjian, Gérard, Adam, Clovis, Benhamo, Vanessa, Clauser, Eric, Guiochon-Mantel, Anne, Young, Jacques, Lombès, Marc, Bourdeau, Isabelle, Maiter, Dominique, Tabarin, Antoine, Bertherat, Jérôme, Lefebvre, Hervé, de Herder, Wouter, Louiset, Estelle, Lacroix, André, Chanson, Philippe, Bouligand, Jérôme, Kamenický, Peter
Publié dans JCI Insight (2017)