Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

por Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken
Publicado 2020

Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism

por Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken
Publicado 2021

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

por Globa, Evgenia, Zelinska, Natalia, Shcherbak, Yulia, Bignon-Topalovic, Joelle, Bashamboo, Anu, MсElreavey, Ken
Publicado 2022

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

por Brauner, Raja, Picard-Dieval, Flavia, Lottmann, Henri, Rouget, Sébastien, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken
Publicado 2016

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

por Galeotti, Caroline, Lahlou, Zineb, Goullon, Domitille, Sarda-Thibault, Hélène, Cahen-Varsaux, Juliette, Bignon-Topalovic, Joëlle, Bashamboo, Anu, McElreavey, Ken, Brauner, Raja
Publicado 2012

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

por Zidoune, Housna, Ladjouze, Asmahane, Chellat-Rezgoune, Djalila, Boukri, Asma, Dib, Scheher Aman, Nouri, Nassim, Tebibel, Meryem, Sifi, Karima, Abadi, Noureddine, Satta, Dalila, Benelmadani, Yasmina, Bignon-Topalovic, Joelle, El-Zaiat-Munsch, Maeva, Bashamboo, Anu, McElreavey, Ken
Publicado 2022

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

por Bashamboo, Anu, Eozenou, Caroline, Jorgensen, Anne, Bignon-Topalovic, Joelle, Siffroi, Jean-Pierre, Hyon, Capucine, Tar, Attila, Nagy, Péter, Sólyom, Janos, Halász, Zita, Paye-Jaouen, Annnabel, Lambert, Sophie, Rodriguez-Buritica, David, Bertalan, Rita, Martinerie, Laetitia, Rajpert-De Meyts, Ewa, Achermann, John C., McElreavey, Ken
Publicado 2018

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

por Harris, Abigail, Siggers, Pam, Corrochano, Silvia, Warr, Nick, Sagar, Danielle, Grimes, Daniel T., Suzuki, Makoto, Burdine, Rebecca D., Cong, Feng, Koo, Bon-Kyoung, Clevers, Hans, Stévant, Isabelle, Nef, Serge, Wells, Sara, Brauner, Raja, Ben Rhouma, Bochra, Belguith, Neïla, Eozenou, Caroline, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken, Greenfield, Andy
Publicado 2018

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

por Rjiba, Khouloud, Mougou-Zerelli, Soumaya, Hamida, Imen hadj, Saad, Ghada, Khadija, Bochra, Jelloul, Afef, Slimani, Wafa, Hasni, Yosra, Dimassi, Sarra, khelifa, Hela Ben, Sallem, Amira, Kammoun, Molka, Abdallah, Hamza Hadj, Gribaa, Moez, Bignon-Topalovic, Joelle, Chelly, Sami, Khairi, Hédi, Bibi, Mohamed, Kacem, Maha, Saad, Ali, Bashamboo, Anu, McElreavey, Kenneth
Publicado 2023

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

por Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P., de Silva, KSH, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F., McElreavey, Ken, Achermann, John C.
Publicado 2016

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

por Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P., de Silva, KSH, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F., McElreavey, Ken, Achermann, John C.
Publicado 2016

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

por McElreavey, Ken, Jorgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa G. G., Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John C., Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard S., Mignot, Brigitte, Van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, Bashamboo, Anu
Publicado 2019

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

por Eozenou, Caroline, Gonen, Nitzan, Touzon, Maria Sol, Jorgensen, Anne, Yatsenko, Svetlana A., Fusee, Leila, Kamel, Alaa K., Gellen, Balazs, Guercio, Gabriela, Singh, Priti, Witchel, Selma, Berman, Andrea J., Mainpal, Rana, Totonchi, Mehdi, Mohseni Meybodi, Anahita, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu
Publicado 2020

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

por Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Publicado 2018