Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Hassen Kamoun"'
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:
Dhoha Ben Salah, Mouna Elleuch, Oumeyma Trimeche, Asma Zargni, Fakhri Kallabi, Salma Sakka, Fatma Mnif, Nabila Rekik, Nadia Charfi, Hassen Kamoun, Mouna Mnif Feki, Faten Hadj Kacem, Mohamed Abid
Publikováno v:
Annals of Child Neurology, Vol 32, Iss 2, Pp 130-134 (2024)
Purpose Allgrove syndrome, also known as “triple A” syndrome, is characterized by adrenal insufficiency, achalasia, and alacrimia. When neurological signs are also present, the condition is referred to as “4 A” syndrome. Methods We conducted
Externí odkaz:
https://doaj.org/article/047022b12fb7477588ee364b1bf1b2b8
Autor:
Nihel Ammous-Boukhris, Rania Abdelmaksoud-Dammak, Dorra Ben Ayed-Guerfali, Souhir Guidara, Olfa Jallouli, Hassen Kamoun, Chahnez Charfi Triki, Raja Mokdad-Gargouri
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disorder (PID) caused by biallelic mutations occurring in the serine/threonine protein kinase (ATM) gene. The major role of nuclear ATM is the coordination of cell signali
Externí odkaz:
https://doaj.org/article/447df5b6af4a40069beb0e0ba22c9786
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 45, Iss , Pp S34-S35 (2023)
Objective: Some patients who achieve deep molecular remission (DMR) can successfully discontinue tyrosine kinase inhibitors (TKI). TKI discontinuation in chronic phase CML is being implemented in the clinical routine.To investigate the outcome of the
Externí odkaz:
https://doaj.org/article/ad1e0cb2e34243ddad1f36d06a551ae4
Publikováno v:
Journal of Taibah University Medical Sciences, Vol 18, Iss 6, Pp S12- (2023)
Externí odkaz:
https://doaj.org/article/65e6ba48b32d4e6585908322cf3befde
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:
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:
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
Publikováno v:
La Tunisie medicale. 100(4)
The MTHFR gene polymorphisms are closely related to the chronic myeloid leukemia (CML). Case-control studies have associated the MTHFR polymorphisms and susceptibility to CML but the results were not conclusive.To assess this association through an u
Autor:
Mariem Ben Said, Abdelaziz Tlili, Saber Masmoudi, Ikhlas Ben Ayed, Amal Bouzid, Hassen Kamoun, Malek Belcadhi, Amal Souissi, Mohamed Ali Mosrati, Abdullah A.Y. Gibriel, Mehdi Hasnaoui, Ines Elloumi, Nabil Idriss, N. Gharbi
Publikováno v:
Journal of Advanced Research, Vol 31, Iss, Pp 13-24 (2021)
Journal of Advanced Research
Journal of Advanced Research
Graphical abstract
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 stu
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 stu