Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Ikhlas Ben Ayed"'
Autor:
Mariem Ben Said, Olfa Jallouli, Abir Ben Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Charfi Triki
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1697-1709 (2024)
Abstract Objective To develop a high‐throughput sequencing panel for the diagnosis of developmental and epileptic encephalopathy in Tunisia and to clarify the frequency of disease‐causing genes in this region. Methods We developed a custom panel
Externí odkaz:
https://doaj.org/article/4b8f1de5496245df8ee7e1d0e2710950
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
Autor:
Ikhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Chahnez Charfi Triki, Saber Masmoudi
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Pathogenic germline variants in the PIGT gene are associated with the “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Re
Externí odkaz:
https://doaj.org/article/b81bd57e58bf4419a6550dcb1a914289
Autor:
Olfa Abida, Nesrine Elloumi, Emna Bahloul, Hend Hachicha, Khadija Sellami, Raouia Fakhfakh, Sameh Marzouk, Ikhlas Ben Ayed, Nadia Mahfoudh, Hamida Turki, Hatem Masmoudi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background Almost 5% of the world's population develops an autoimmune disease (AID), it is considered the fourth leading cause of disability for women, who represent 78% of cases. The sex ratio when it comes to the most prevalent AID varies
Externí odkaz:
https://doaj.org/article/12944cab5e61475391076298e3045e96
Autor:
Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi
Publikováno v:
Journal of Advanced Research, Vol 31, Iss , Pp 13-24 (2021)
Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. Objectives: In this study, we investigated ge
Externí odkaz:
https://doaj.org/article/d83cd2772882444aaeaa06063629e58a
Autor:
Amal Bouzid, Ameni Chelly, Adel Tekari, Neha Singh, Kirtal Hansdah, Imen Achour, Ikhlas Ben Ayed, Fida Jbeli, Ilhem Charfeddine, Puppala Venkat Ramchander, Rifat Hamoudi, Saber Masmoudi
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Otosclerosis (OTSC) is a complex bone disorder of the otic capsule, which causes conductive hearing impairment in human adults. The dysregulation of the signaling axis mediated by the receptor activator of nuclear factor-kappa-B (RANK), RANK ligand (
Externí odkaz:
https://doaj.org/article/cda87e280ade41e385b00d48f5c5de38
Autor:
Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Mehdi Hasnaoui, Amal Souissi, Nabil Idriss, Hajer Aloulou, Imen Chabchoub, Bayen Maâlej, Dorra Driss, Saber Masmoudi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
Abstract Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the
Externí odkaz:
https://doaj.org/article/01fca82a9d894f96ab5b563a1d709a3b
Autor:
Ikhlas Ben Ayed, Amal Bouzid, Fatma Kammoun, Amal souissi, Olfa Jallouli, Salma Mallouli, Souhir Guidara, Salma Loukil, Hajer Aloulou, Fida Jbeli, Sahar Aouichaoui, Dorra Abid, Fatma Abdelhedi, Chahnez Triki, Hassen Kamoun, Saber Masmoudi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only
Externí odkaz:
https://doaj.org/article/a21fb15130e34021bb3464c79a22b09f
Autor:
Abir Ben Issa, Ikhlas Ben Ayed, Olfa Jallouli, Amal Souissi, Wafa Bouchaalla, Mariem Ben Said, Salma Mallouli, Saber Masmoudi, Chahnez Charfi Triki, Hassen Hadj Kacem, Fatma Kammoun
Publikováno v:
International Journal of Developmental Neuroscience.
Autor:
Ashraf Yahia, Ikhlas Ben Ayed, Ahlam A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Aisha M. Bakhiet, Lena Guillot‐Noel, Fatima Abozar, Rawaa Adil, Sara Emad, Rayan Abubaker, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Omer M. Maaroof, Amal Soussi, Amal Bouzid, Sana Kmiha, Hassen Kamoun, Mustafa A. Salih, Ammar E. Ahmed, Liena Elsayed, Saber Masmoudi, Giovanni Stevanin
Publikováno v:
Ann Hum Genet
Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and