Pituitary stalk interruption syndrome is characterized by genetic heterogeneity von Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken

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Human sex-determination and disorders of sex-development (DSD) von Bashamboo, Anu, McElreavey, Ken

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Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study von Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken

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Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development von Bashamboo, Anu, McElreavey, Ken

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis von Palmer, Colin N A, Irvine, Alan D, Terron-Kwiatkowski, Ana, Zhao, Yiwei, Liao, Haihui, Lee, Simon P, Goudie, David R, Sandilands, Aileen, Campbell, Linda E, Smith, Frances J D, O'Regan, Gráinne M, Watson, Rosemarie M, Cecil, Jo E, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Fleckman, Philip, Lewis-Jones, Sue, Arseculeratne, Gehan, Sergeant, Ann, Munro, Colin S, El Houate, Brahim, McElreavey, Ken, Halkjaer, Liselotte B, Bisgaard, Hans, Mukhopadhyay, Somnath, McLean, W H Irwin

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Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome von Bashamboo, Anu, Bignon-Topalovic, Joelle, Moussi, Nasser, McElreavey, Ken, Brauner, Raja

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ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling von 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

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

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene von 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, Meybodi, Anahita Mohseni, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Garrido, Natalia Perez, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu

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Loss-of-function mutation in GATA4 causes anomalies of human testicular development von Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu

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Evidence for NR2F2/COUP-TFII involvement in human testis development von Wankanit, Somboon, Zidoune, Housna, Bignon-Topalovic, Joëlle, Schlick, Laurène, Houzelstein, Denis, Fusée, Leila, Boukri, Asma, Nouri, Nassim, McElreavey, Ken, Bashamboo, Anu, Elzaiat, Maëva

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

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Identification of a missense variant in CLDN2 in obstructive azoospermia von 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

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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination von 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

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

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Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism von Brauner, Raja, Bignon-Topalovic, Joelle, Bashamboo, Anu, McElreavey, Ken

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Clinical, biological and genetic analysis of anorchia in 26 boys von Brauner, Raja, Neve, Mathieu, Allali, Slimane, Trivin, Christine, Lottmann, Henri, Bashamboo, Anu, McElreavey, Ken

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Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor von Quintana-Murci, Lluís, Chaix, Raphaëlle, Wells, R. Spencer, Behar, Doron M., Sayar, Hamid, Scozzari, Rosaria, Rengo, Chiara, Al-Zahery, Nadia, Semino, Ornella, Santachiara-Benerecetti, A. Silvana, Coppa, Alfredo, Ayub, Qasim, Mohyuddin, Aisha, Tyler-Smith, Chris, Qasim Mehdi, S., Torroni, Antonio, McElreavey, Ken

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Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias von Allali, Slimane, Muller, Jean-Baptiste, Brauner, Raja, Lourenço, Diana, Boudjenah, Radia, Karageorgou, Vasiliki, Trivin, Christine, Lottmann, Henri, Lortat-Jacob, Stephen, Nihoul-Fékété, Claire, De Dreuzy, Olivier, McElreavey, Ken, Bashamboo, Anu

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Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men von Eloualid, Abdelmajid, Ph.D, Rouba, Hassan, Ph.D, Rhaissi, Houria, Ph.D, Barakat, Abdelhamid, Ph.D, Louanjli, Noureddine, M.D, Bashamboo, Anu, Ph.D, McElreavey, Ken, Ph.D

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