FAP in India: a first genetically proven case

por Pan, Daniel, Bouligand, Jérôme, Guiochon-Mantel, Anne, Adams, David
Publicado 2015

AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature

por Huynh, Minh-Tuan, Proust, Alexis, Bouligand, Jérôme, Popescu, Elena
Publicado 2022

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

por Almes, Marion, Gardin, Antoine, Davit-Spraul, Anne, Bouligand, Jérôme, Habes, Dalila, Jacquemin, Emmanuel
Publicado 2023

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

por Sarfati, Julie, Bouvattier, Claire, Bry-Gauillard, Hélène, Cartes, Alejandra, Bouligand, Jérôme, Young, Jacques
Publicado 2015

Major Depressive Disorder and Oxidative Stress: A Review of Peripheral and Genetic Biomarkers According to Clinical Characteristics and Disease Stages

por Ait Tayeb, Abd El Kader, Poinsignon, Vianney, Chappell, Kenneth, Bouligand, Jérôme, Becquemont, Laurent, Verstuyft, Céline
Publicado 2023

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

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

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

por Foussier, Loïc, Vitellius, Géraldine, Bouligand, Jérôme, Amazit, Larbi, Bouvattier, Claire, Young, Jacques, Trabado, Séverine, Lombès, Marc
Publicado 2019

The MAOA rs979605 Genetic Polymorphism Is Differentially Associated with Clinical Improvement Following Antidepressant Treatment between Male and Female Depressed Patients

por Chappell, Kenneth, Colle, Romain, Bouligand, Jérôme, Trabado, Séverine, Fève, Bruno, Becquemont, Laurent, Corruble, Emmanuelle, Verstuyft, Céline
Publicado 2022

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

por Molet, Lucie, Girlich, Delphine, Bonnin, Rémy A., Proust, Alexis, Bouligand, Jérôme, Bachelerie, Françoise, Hantz, Sébastien, Deback, Claire
Publicado 2019

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

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

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

FRI163 Central Role Of Mirnas During Kidney Development And Establishment Of The Mineralocorticoid Signaling Pathway Establishment Of The Mineralocorticoid Signaling Pathway

por Hani, Imene, An Vu, Thi, Brillet, Riwan, Perrot, Julie, Bouligand, Jérôme, Guegan, Justine, Cherradi, Nadia, Kamenicky, Peter, Lombes, Marc, Martinerie, Laetitia, Viengchareun, Say
Publicado 2023

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

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

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

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

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

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

por Papadakis, Georgios E, Dumont, Agathe, Bouligand, Jerome, Chasseloup, Fanny, Raggi, Anna, Catteau-Jonard, Sophie, Boute-Benejean, Odile, Pitteloud, Nelly, Young, Jacques, Dewailly, Didier R
Publicado 2020

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

The association of ARRB1 polymorphisms with response to antidepressant treatment in depressed patients

por Chappell, Kenneth, Ait Tayeb, Abd El Kader, Colle, Romain, Bouligand, Jérôme, El-Asmar, Khalil, Gressier, Florence, Trabado, Séverine, David, Denis Joseph, Feve, Bruno, Becquemont, Laurent, Corruble, Emmanuelle, Verstuyft, Céline
Publicado 2022

R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

por 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
Publicado 2013

Correction: R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

por 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
Publicado 2013