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

by Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
Published 2021-05-01

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

by Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
Published 2020-01-01

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study

by Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
Published 2023-01-01

Clinical, biological and genetic analysis of anorchia in 26 boys.

by Raja Brauner, Mathieu Neve, Slimane Allali, Christine Trivin, Henri Lottmann, Anu Bashamboo, Ken McElreavey
Published 2011-01-01

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

by Evgenia Globa, Natalia Zelinska, Yulia Shcherbak, Joelle Bignon-Topalovic, Anu Bashamboo, Ken MсElreavey
Published 2022-03-01

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

by Audrey Vizeneux, Aude Hilfiger, Jérôme Bouligand, Monique Pouillot, Sylvie Brailly-Tabard, Anu Bashamboo, Ken McElreavey, Raja Brauner
Published 2013-01-01

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.

by Raja Brauner, Anu Bashamboo, Sébastien Rouget, Marie Goulet, Pascal Philibert, Hélène Sarda-Thibault, Christine Trivin, Micheline Misrahi, Charles Sultan, Ken McElreavey
Published 2010-06-01

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.

by Caroline Galeotti, Zineb Lahlou, Domitille Goullon, Hélène Sarda-Thibault, Juliette Cahen-Varsaux, Joëlle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey, Raja Brauner
Published 2012-01-01

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

by Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud
Published 2019-07-01

Association of the MTHFR A1298C variant with unexplained severe male infertility.

by Abdelmajid Eloualid, Omar Abidi, Majida Charif, Brahim El Houate, Houda Benrahma, Noureddine Louanjli, Elbakkay Chadli, Maria Ajjemami, Abdelhamid Barakat, Anu Bashamboo, Ken McElreavey, Houria Rhaissi, Hassan Rouba
Published 2012-01-01

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

by Rahma Mkaouar, Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud
Published 2021-09-01

Association of spermatogenic failure with the b2/b3 partial AZFc deletion.

by Abdelmajid Eloualid, Houria Rhaissi, Ahmed Reguig, Safaa Bounaceur, Brahim El Houate, Omar Abidi, Majida Charif, Noureddine Louanjli, Elbakkay Chadli, Abdelhamid Barakat, Anu Bashamboo, Ken McElreavey, Hassan Rouba
Published 2012-01-01

The evolving role of whole-exome sequencing in the management of disorders of sex development

by Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, Kenneth McElreavey
Published 2021-06-01

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

by Celia Ravel, Sandra Chantot-Bastaraud, Clementine Chalmey, Luis Barreiro, Isabelle Aknin-Seifer, Jerome Pfeffer, Isabelle Berthaut, E Emmanuelle Mathieu, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Ken McElreavey, Anu Bashamboo
Published 2009-01-01

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

by Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo
Published 2011-01-01

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

by Denis Houzelstein, Caroline Eozenou, Carlos F. Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S. Conway, Delphine Bohl, John C. Achermann, Anu Bashamboo, Ken McElreavey
Published 2024-03-01

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

by Housna Zidoune, Housna Zidoune, Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey
Published 2022-08-01

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

by Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey
Published 2023-01-01

Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.

by Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, Hélène Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, Pierre Alessandrini, Kathy Wagner, Jean Yves Kurzenne, Florence Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattea Orsini, Jean-Pierre Daures, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan
Published 2013-01-01

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

by Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Published 2023-06-01