Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Saber, Masmoudi"'
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:
Saba Gargouri, Amal Souissi, Nabil Abid, Amel Chtourou, Lamia Feki-Berrajah, Rim Karray, Hana Kossentini, Ikhlass Ben Ayed, Fatma Abdelmoula, Olfa Chakroun, Abdennour Nasri, Adnène Hammami, Noureddine Rekik, Saber Masmoudi, Hela Karray-Hakim, Ahmed Rebai
Publikováno v:
International Journal of Infectious Diseases, Vol 117, Iss , Pp 146-154 (2022)
Objectives: Since the onset of the COVID-19 pandemic, cases of reinfection with SARS-CoV-2 have been reported, raising additional public health concerns. SARS-CoV-2 reinfection was assessed in healthcare workers (HCWs) in Tunisia because they are at
Externí odkaz:
https://doaj.org/article/cceb4bc880e24685af4e1afa271746d4
Autor:
Imen Ben Chabchoubi, Rim Attya Bouchhima, Nacim Louhichi, Aissette Baanannou, Saber Masmoudi, Olfa Hentati
Publikováno v:
MethodsX, Vol 10, Iss , Pp 102215- (2023)
Due to the widespread use of non-steroidal anti-inflammatory drugs (NSAIDs) without a medical prescription and their frequent prevalence in aquatic habitats, there are major health and environmental issues. NSAIDs have been found in surface water and
Externí odkaz:
https://doaj.org/article/1a57537c2a074eb1b8386e4dd74be570
Autor:
Dina Ben Mohamed, Zacharia Saied, Samia Ben Sassi, Mariem Ben Said, Fatma Nabli, Afef Achouri, Cyrine Jeridi, Saber Masmoudi, Rim Amouri
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract CLCN2‐related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC‐2 chloride channel protein wit
Externí odkaz:
https://doaj.org/article/55b76e257380470da80c48b7d37b24da
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:
Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander, Saber Masmoudi
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expression has been suggested
Externí odkaz:
https://doaj.org/article/f0fdfec8b41144259354249c5a32eceb
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