Pituitary stalk interruption syndrome is characterized by genetic heterogeneity
Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken
Published in PloS one (03.12.2020)
Published in PloS one (03.12.2020)
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Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study
Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken
Published in PloS one (14.12.2023)
Published in PloS one (14.12.2023)
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Journal Article
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
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, Rhouma, Bochra Ben, Belguith, Neïla, Eozenou, Caroline, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken, Greenfield, Andy
Published in Proceedings of the National Academy of Sciences - PNAS (22.05.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (22.05.2018)
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Journal Article
An ancient protein-DNA interaction underlying metazoan sex determination
Murphy, Mark W, Lee, John K, Rojo, Sandra, Gearhart, Micah D, Kurahashi, Kayo, Banerjee, Surajit, Loeuille, Guy-André, Bashamboo, Anu, McElreavey, Kenneth, Zarkower, David, Aihara, Hideki, Bardwell, Vivian J
Published in Nature structural & molecular biology (01.06.2015)
Published in Nature structural & molecular biology (01.06.2015)
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Journal Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (25.01.2011)
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Journal Article
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
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
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings
Globa, Evgenia, Zelinska, Natalia, Shcherbak, Yulia, Bignon-Topalovic, Joelle, Bashamboo, Anu, MсElreavey, Ken
Published in Frontiers in endocrinology (Lausanne) (21.03.2022)
Published in Frontiers in endocrinology (Lausanne) (21.03.2022)
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Journal Article
Evidence for NR2F2/COUP-TFII involvement in human testis development
Wankanit, Somboon, Zidoune, Housna, Bignon-Topalovic, Joëlle, Schlick, Laurène, Houzelstein, Denis, Fusée, Leila, Boukri, Asma, Nouri, Nassim, McElreavey, Ken, Bashamboo, Anu, Elzaiat, Maëva
Published in Scientific reports (01.08.2024)
Published in Scientific reports (01.08.2024)
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Journal Article
Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome
Montjean, Debbie, Ph.D, Ravel, Célia, M.D., Ph.D, Benkhalifa, Moncef, Ph.D, Cohen-Bacrie, Paul, D.Pharm, Berthaut, Isabelle, Ph.D, Bashamboo, Anu, Ph.D, McElreavey, Kenneth, Ph.D
Published in Fertility and sterility (01.11.2013)
Published in Fertility and sterility (01.11.2013)
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Journal Article
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination
Houzelstein, Denis, Eozenou, Caroline, Lagos, Carlos F, Elzaiat, Maëva, Bignon-Topalovic, Joelle, Gonzalez, Inma, Laville, Vincent, Schlick, Laurène, Wankanit, Somboon, Madon, Prochi, Kirtane, Jyotsna, Athalye, Arundhati, Buonocore, Federica, Bigou, Stéphanie, Conway, Gerard S, Bohl, Delphine, Achermann, John C, Bashamboo, Anu, McElreavey, Ken
Published in Nature communications (30.03.2024)
Published in Nature communications (30.03.2024)
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Journal Article
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
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
Published in Human molecular genetics (15.08.2016)
Published in Human molecular genetics (15.08.2016)
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Journal Article
Identification of a missense variant in CLDN2 in obstructive azoospermia
Askari, Masomeh, Karamzadeh, Razieh, Ansari-Pour, Naser, Karimi-Jafari, Mohammad Hossein, Almadani, Navid, Sadighi Gilani, Mohammad Ali, Gourabi, Hamid, Vosough Taghi Dizaj, Ahmad, Mohseni Meybodi, Anahita, Sadeghi, Mehdi, Bashamboo, Anu, McElreavey, Ken, Totonchi, Mehdi
Published in Journal of human genetics (01.10.2019)
Published in Journal of human genetics (01.10.2019)
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Journal Article
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort
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
Published in Frontiers in genetics (30.08.2022)
Published in Frontiers in genetics (30.08.2022)
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Journal Article
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
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
Published in Reproductive biology and endocrinology (11.01.2023)
Published in Reproductive biology and endocrinology (11.01.2023)
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Journal Article
Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism
Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken
Published in Frontiers in pediatrics (07.05.2021)
Published in Frontiers in pediatrics (07.05.2021)
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Journal Article
Clinical, biological and genetic analysis of anorchia in 26 boys
Brauner, Raja, Neve, Mathieu, Allali, Slimane, Trivin, Christine, Lottmann, Henri, Bashamboo, Anu, McElreavey, Ken
Published in PloS one (10.08.2011)
Published in PloS one (10.08.2011)
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