Genome Tunisia Project: paving the way for precision medicine in North Africa

Autor: Yosr Hamdi, Mediha Trabelsi, Kais Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Cherine Charfeddine, Amal Souissi, Imen Rejeb, Wafa Kammoun Rebai, Chaima Hkimi, Fadoua Neifar, Nouha Jandoubi, Rahma Mkaouar, Melek Chaouch, Ayda Bennour, Selim Kamoun, Hend Chaker Masmoudi, Nabil Abid, Maha Mezghani Khemakhem, On behalf of the GTCA Consortium, Saber Masmoudi, Ali Saad, Lamia BenJemaa, Alia BenKahla, Samir Boubaker, Ridha Mrad, Hassen Kamoun, Sonia Abdelhak, Moez Gribaa, Neila Belguith, Najla Kharrat, Dorra Hmida, Ahmed Rebai

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-19 (2024)

Abstract Background Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022–2035) which aims to del

Externí odkaz: https://doaj.org/article/d62ab665af394533b93e1685ae93dc5f

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

Autor: Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Molka Sebai, Arndt Rolfs, Lamia Benjemaa

Publikováno v: Clinical Case Reports, Vol 10, Iss 5, Pp n/a-n/a (2022)

Abstract Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Ar

Externí odkaz: https://doaj.org/article/71e67b5153df45e58b6925c31be3b13c

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities

Autor: Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb, Syrine Hizem, Vladimir Kenis, Franz Grill, Susanne Gerit Kircher, Mohammad Shboul, Farid Ben Chehida

Publikováno v: Diagnostics, Vol 12, Iss 10, p 2375 (2022)

Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Differen

Externí odkaz: https://doaj.org/article/c050500642434ea7bb8e3acc6ebb24b5

Beckwith–Wiedemann syndrome : Clinical, histopathological and molecular study of two Tunisian patients and review of literature

Autor: Samia Hannachi, Nadia Kasdallah, Ali Saad, H. Bouthour, Lamia BenJemaa, Houweyda Jilani, Dorra H'mida Ben-Brahim, H. Sassi, Molka Sebai, Jasmin Beygo, Imen Rejeb, Syrine Hizem, Yasmina Elaribi, Karin Buiting

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d169c88acc49bed58603bab7f8ef258b
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85114661901

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

Autor: Lamia Hila, Houweyda Jilani, Syrine Hizem, Yasmina Elaribi, Imen Rejeb, Julia Lauer Zillahrdt, Jamel Chelly, Lamia BenJemaa

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, 2017, 18 (1), pp.134. ⟨10.1186/s12881-017-0493-5⟩
BMC Medical Genetics, BioMed Central, 2017, 18 (1), pp.134. ⟨10.1186/s12881-017-0493-5⟩
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

International audience; BACKGROUND:Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557ae1d12c89af6ef7db07a744b1045a
https://www.hal.inserm.fr/inserm-02304793/file/s12881-017-0493-5.pdf