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

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