Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder

por Roucher-Boulez, Florence, Mallet, Delphine, Chatron, Nicolas, Dijoud, Frédérique, Gorduza, Daniela Brindusa, Bretones, Patricia, Morel, Yves
Publicado 2019

Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and impo...

por Ferreux, Lucile, Boumerdassi, Yasmine, Dulioust, Emmanuel, Bertagna, Xavier, Roucher-Boulez, Florence, Bourdon, Mathilde, Thiounn, Nicolas, Patrat, Catherine
Publicado 2023

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

por Iughetti, Lorenzo, Lucaccioni, Laura, Bruzzi, Patrizia, Ciancia, Silvia, Bigi, Elena, Madeo, Simona Filomena, Predieri, Barbara, Roucher-Boulez, Florence
Publicado 2019

Age- and Sex-Specific TSH Upper-Limit Reference Intervals in the General French Population: There Is a Need to Adjust Our Actual Practices

por Raverot, Véronique, Bonjour, Maxime, Abeillon du Payrat, Juliette, Perrin, Pauline, Roucher-Boulez, Florence, Lasolle, Helene, Subtil, Fabien, Borson-Chazot, Françoise
Publicado 2020

Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 D...

por Garcia, Cyril, Dusaud, Marie, Chiron, Paul, Sollier, Mathilde, Nassouri, Sika, Groussin, Lionel, Sibony, Mathilde, Goursaud, Claire, Roucher-Boulez, Florence, Bordier, Lyse
Publicado 2021

Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria

por Ladjouze, Asmahane, Donaldson, Malcolm, Plotton, Ingrid, Djenane, Nacima, Mohammedi, Kahina, Tardy-Guidollet, Véronique, Mallet, Delphine, Boulesnane, Kamélia, Bouzerar, Zair, Morel, Yves, Roucher-Boulez, Florence
Publicado 2022

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

por Goursaud, Claire, Mallet, Delphine, Janin, Alexandre, Menassa, Rita, Tardy-Guidollet, Véronique, Russo, Gianni, Lienhardt-Roussie, Anne, Lecointre, Claudine, Plotton, Ingrid, Morel, Yves, Roucher-Boulez, Florence
Publicado 2018

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)

por Teoli, Jordan, Mallet, Delphine, Renault, Lucie, Gay, Claire-Lise, Labrune, Elsa, Bretones, Patricia, Giscard D’Estaing, Sandrine, Cuzin, Béatrice, Dijoud, Frédérique, Roucher-Boulez, Florence, Plotton, Ingrid
Publicado 2023

Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants

por Teoli, Jordan, Mezzarobba, Vincent, Renault, Lucie, Mallet, Delphine, Lejeune, Hervé, Chatelain, Pierre, Tixier, Frédérique, Nicolino, Marc, Peretti, Noël, Giscard D’estaing, Sandrine, Cuzin, Béatrice, Dijoud, Frédérique, Roucher-Boulez, Florence, Plotton, Ingrid
Publicado 2022

Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation

por Lucas, Cécily, Sauter, Kay-Sara, Steigert, Michael, Mallet, Delphine, Wilmouth, James, Olabe, Julie, Plotton, Ingrid, Morel, Yves, Aeberli, Daniel, Wagner, Franca, Clevers, Hans, Pandey, Amit V., Val, Pierre, Roucher-Boulez, Florence, Flück, Christa E.
Publicado 2023

Sexually dimorphic activation of innate antitumor immunity prevents adrenocortical carcinoma development

por Wilmouth, James J., Olabe, Julie, Garcia-Garcia, Diana, Lucas, Cécily, Guiton, Rachel, Roucher-Boulez, Florence, Dufour, Damien, Damon-Soubeyrand, Christelle, Sahut-Barnola, Isabelle, Pointud, Jean-Christophe, Renaud, Yoan, Levasseur, Adrien, Tauveron, Igor, Lefrançois-Martinez, Anne-Marie, Martinez, Antoine, Val, Pierre
Publicado 2022

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

por Dimassi, Sarra, Simonet, Thomas, Labalme, Audrey, Boutry-Kryza, Nadia, Campan-Fournier, Amandine, Lamy, Raphaelle, Bardel, Claire, Elsensohn, Mad-Hélénie, Roucher-Boulez, Florence, Chatron, Nicolas, Putoux, Audrey, de Bellescize, Julitta, Ville, Dorothée, Schaeffer, Laurent, Roy, Pascal, Mougou-Zerelli, Soumaya, Saad, Ali, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan
Publicado 2015

Loss of SUMO-specific protease 2 causes isolated glucocorticoid deficiency by blocking adrenal cortex zonal transdifferentiation in mice

por Dufour, Damien, Dumontet, Typhanie, Sahut-Barnola, Isabelle, Carusi, Aude, Onzon, Méline, Pussard, Eric, Wilmouth, James Jr, Olabe, Julie, Lucas, Cécily, Levasseur, Adrien, Damon-Soubeyrand, Christelle, Pointud, Jean-Christophe, Roucher-Boulez, Florence, Tauveron, Igor, Bossis, Guillaume, Yeh, Edward T., Breault, David T., Val, Pierre, Lefrançois-Martinez, Anne-Marie, Martinez, Antoine
Publicado 2022