Challenges for Molecular Diagnosis of Familial Early-Onset Diabetes in Unexplored Populations

por AMARA, Abdelbasset, CHADLI-CHAIEB, Molka, CHAIEB, Larbi, SAAD, Ali, GRIBAA, Moez
Publicado 2014

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family

por Elfekih, Hamza, Abdelkrim, Asma Ben, Marzouk, Hajer, Saad, Ghada, Gribaa, Moez, Hasni, Yosra, Maaroufi, Amel
Publicado 2020

Prostatic tissue in 46XX congenital adrenal hyperplasia: Case report and literature review

por Elfekih, Hamza, Ben Abdelkrim, Asma, Marzouk, Hajer, Saad, Ghada, Gasmi, Ayoub, Gribaa, Moez, Zaghouani, Hounaida, Hasni, Yosra, Maaroufi, Amel
Publicado 2021

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus

por AMARA, Abdelbasset, BEN CHARFEDDINE, Ilhem, GHÉDIR, Houda, MAMAÏ, Ons, JEMNI-YACOUB, Saloua, CHAIEB, Larbi, SAAD, Ali, CHADLI-CHAIEB, Molka, GRIBAA, Moez
Publicado 2015

Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment

por CHATTI, Imen, WOILLARD, Jean-Baptiste, MILI, Amira, CREVEAUX, Isabelle, BEN CHARFEDDINE, Ilhem, FEKI, Jihène, LANGLAIS, Sarah, BEN FATMA, Leila, SAAD, Ali, GRIBAA, Moez, LIBERT, Frédéric
Publicado 2017

Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor

por H'mida Ben-Brahim, Dorra, Hammami, Sabeur, Haddaji Mastouri, Marwa, Trabelsi, Saoussen, Chourabi, Maroua, Sassi, Sihem, Mougou, Soumaya, Gribaa, Moez, Zakhama, Abdelfattah, Guédiche, Mohamed Neji, Saad, Ali
Publicado 2014

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer

por Mahdouani, Marwa, Ben Ahmed, Slim, Hmila, Fahmi, Rais, Henda, Ben Sghaier, Rihab, Saad, Hanene, Ben Said, Mariem, Masmoudi, Saber, Hmida, Dorra, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gribaa, Moez, Plotz, Guido
Publicado 2022

Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

por Hmida-Ben Brahim, Dorra, Chourabi, Marwa, Ben Amor, Sana, Harrabi, Imed, Trabelsi, Saoussen, Haddaji-Mastouri, Marwa, Gribaa, Moez, Sassi, Sihem, Gahbiche, Fatma Ezzahra, Lamouchi, Turkia, Mougou-Zereli, Soumaya, Ben Ammou, Sofiane, Saad, Ali
Publicado 2014

Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

por Mamaï, Ons, Boussofara, Lobna, Denguezli, Mohamed, Escande-Beillard, Nathalie, Kraeim, Wahiba, Merriman, Barry, Ben Charfeddine, Ilhem, Stevanin, Giovanni, Bouraoui, Sana, Amara, Abdelbasset, Mili, Amira, Nouira, Rafiaa, H'mida, Dorra, Sriha, Badreddine, Gribaa, Moez, Saad, Ali, Reversade, Bruno
Publicado 2015

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

por 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
Publicado 2023

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

por Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., Wilson, Neil J., Smith, Frances J. D., Goh, Christabelle S. M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J., Evans, Alan T., Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Akihiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J., McGrath, John A, Brown, Sara J., Goudie, David R., Reversade, Bruno, Munro, Colin S., McLean, W. H. Irwin
Publicado 2012

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

por Sangaré, Modibo, Hendrickson, Brant, Sango, Hammadoun Ali, Chen, Kelian, Nofziger, Jonathan, Amara, Abdelbasset, Dutra, Amalia, Schindler, Alice B., Guindo, Aldiouma, Traoré, Mahamadou, Harmison, George, Pak, Evgenia, Yaro, Fatoumata N'Go, Bricceno, Katherine, Grunseich, Christopher, Chen, Guibin, Boehm, Manfred, Zukosky, Kristen, Bocoum, Nouhoum, Meilleur, Katherine G., Daou, Fatoumata, Bagayogo, Koumba, Coulibaly, Yaya Ibrahim, Diakité, Mahamadou, Fay, Michael P., Lee, Hee‐Suk, Saad, Ali, Gribaa, Moez, Singleton, Andrew B., Maiga, Youssoufa, Auh, Sungyoung, Landouré, Guida, Fairhurst, Rick M., Burnett, Barrington G., Scholl, Thomas, Fischbeck, Kenneth H.
Publicado 2014