Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysge...

by Rjiba Khouloud, Wafa Slimani, Meriem Gaddas, Ikbel Hadj hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli
Published 2023-03-01

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

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

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

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

by Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit
Published 2014-01-01

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

Predictors of surgical complications in boys with hypospadias: data from an international registry

by Tim Cheetham, Sukran Poyrazoglu, Justin H Davies, S Faisal Ahmed, Jillian Bryce, Anna Nordenström, Angela K Lucas-Herald, Paul-Martin Holterhus, Marcio Lopes Miranda, Stuart O’Toole, Eduardo Corrêa Costa, Kathryn Scougall, Federico Baronio, Rachel L Boal, Jose Roberto Castera, Sebastián Castro, Feyza Darendeliler, Mirjam Dirlewanger, Gabriella Gazdagh, Evgenia Globa, Gil Guerra-Junior, Tulay Guran, Gloria Herrmann, Ahsen Karagözlü Akgül, Renata Markosyan, Kenneth McElreavey, Gianni Russo, Valerie Schwitzgebel, Marianna Stancampiano, Michael Steigert
Published 2023-10-01

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

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