Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Mahmoud Taleb Al-Ali"'
Autor:
Sami Bizzari, Pratibha Nair, Sayeeda Hana, Asha Deepthi, Mahmoud Taleb Al-Ali, Lihadh Al-Gazali, Stephany El-Hayek
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Like many other Arab countries, the United Arab Emirates (UAE) has a relatively high prevalence of genetic disorders. Here we present the first review and analysis of all genetic disorders and gene variants reported in Emirati nationals and hosted on
Externí odkaz:
https://doaj.org/article/090c2c27b0c3460d8f58ec624a01b038
Autor:
Sami Bizzari, Pratibha Nair, Asha Deepthi, Sayeeda Hana, Mahmoud Taleb Al-Ali, André Megarbané, Stephany El-Hayek
Publikováno v:
Genes, Vol 12, Iss 10, p 1518 (2021)
Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) database, currently holds data on 642 genetic diseases and 676 related
Externí odkaz:
https://doaj.org/article/301303fd6cba42eda8264b65194636d2
Autor:
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by muta
Externí odkaz:
https://doaj.org/article/e9f9b479dd284f109db6422496b298c8
Autor:
Pratibha Nair, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, Fatma Bastaki
Publikováno v:
Oman Journal of Ophthalmology, Vol 10, Iss 3, Pp 228-231 (2017)
Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made bas
Externí odkaz:
https://doaj.org/article/93b58fbfbe594dd8877cda4ff3f29037
Autor:
Alicia Gambarini, Marc Obeid, Stephany El-Hayek, André Mégarbané, Asha Deepthi, Mahmoud Taleb Al-Ali
Publikováno v:
American Journal of Medical Genetics Part A. 182:1230-1235
We describe a patient with palatal abnormalities-cleft palate and bifid uvula; distinctive facial features-long and triangular face, large ears and nose, thin lips and dental crowding; musculoskeletal abnormalities-severe scoliosis, joint laxity, lon
Autor:
Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague
Publikováno v:
Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760
https://hal-amu.archives-ouvertes.fr/hal-03662760
Autor:
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩
Background: Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce. Objective: This study aims to provide a retrospective overview of hereditary NMDs based on our cl
Autor:
Alicia Gambarini, Mahmoud Taleb Al-Ali, Pratibha Nair, Christel Castro, Stephany El-Hayek, André Mégarbané, Victor Wakim, Sami Bizzari, Valérie Delague
Publikováno v:
Clinical Dysmorphology
Clinical Dysmorphology, Lippincott, Williams & Wilkins, 2021, 30 (1), pp.44-49. ⟨10.1097/MCD.0000000000000348⟩
Clinical Dysmorphology, Lippincott, Williams & Wilkins, 2021, 30 (1), pp.44-49. ⟨10.1097/MCD.0000000000000348⟩
International audience; The SOX 11gene is a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. Recently, SOX11variants were linked to case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f013db87efa9ea11f5f3ae1eee6af65c
https://hal-amu.archives-ouvertes.fr/hal-03147650
https://hal-amu.archives-ouvertes.fr/hal-03147650
Autor:
Valérie Delague, Alicia Gambarini, Stephany El-Hayek, André Mégarbané, Sayeeda Hana, Mahmoud Taleb Al-Ali
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2020, 182 (8), pp.1865-1872. ⟨10.1002/ajmg.a.61730⟩
American Journal of Medical Genetics Part A, Wiley, 2020, 182 (8), pp.1865-1872. ⟨10.1002/ajmg.a.61730⟩
International audience; We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability, absent speech, hearing impairme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f78eca702920b975c9015b925dd1a77
https://hal-amu.archives-ouvertes.fr/hal-03147656/document
https://hal-amu.archives-ouvertes.fr/hal-03147656/document
Autor:
Pratibha Nair, Mahmoud Taleb Al-Ali, Sami Bizzari, Stephany El-Hayek, Sayeeda Hana, Asha Deepthi, André Mégarbané
Publikováno v:
Genes
Genes, Vol 12, Iss 1518, p 1518 (2021)
Genes, Vol 12, Iss 1518, p 1518 (2021)
Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) database, currently holds data on 642 genetic diseases and 676 related