Zobrazeno 1 - 10
of 190
pro vyhledávání: '"A S, Teebi"'
Publikováno v:
Journal of Pediatric Neurology. 10:193-198
The wide variety in incidence rates of neural tube defects (NTD) in the Arabian region have been attributed to environmental, dietary and genetic factors. No previous study has been conducted in the State of Qatar to document the incidence and trends
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4afb5fc47805dc09a1b46c6a60e545ef
https://doi.org/10.3233/jpn-2012-0567
https://doi.org/10.3233/jpn-2012-0567
Publikováno v:
Journal of Neurology. 256:2087-2090
Dear Sir(s), Lissencephaly is a descriptive term referring to agyria/ pachygyria, regardless of its etiopathogenesis. Only LIS Type I is linked to abnormal neuronal migration. It is caused by three genetic mutations: LIS1, DCX and TUBA1A. LIS1 is ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a99d0147166bb264ca2abdf0e925ca54
https://doi.org/10.1007/s00415-009-5280-6
https://doi.org/10.1007/s00415-009-5280-6
Autor:
Abdulrahman Alswaid, Namik Kaya, Issam Bouhoaigah, Tariq Momenah, Syed H.E. Zaidi, Nouriyah Al-Sanna, Fouad Al-Dayel, Mohammed Saliem, Lap-Chee Tsui, Ahmad S. Teebi, Muhammad Faiyaz-Ul-Haque
Publikováno v:
Atherosclerosis. 203:466-471
Arterial tortuosity syndrome is an autosomal recessive disorder characterized by severe tortuosity of greater and systemic arteries in affected individuals. In addition, patients display connective tissue features which include hyperextensible skin,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2962ccd4ca4688fcc3c6c58472ffa8
https://doi.org/10.1016/j.atherosclerosis.2008.07.026
https://doi.org/10.1016/j.atherosclerosis.2008.07.026
Autor:
Eric Bieth, Alice Masurel-Paulet, Bernard Aral, Nadège Gigot, Brunella Franco, Anne Donzel, Mario Tosi, Lionel Van Maldergem, Elodie Gautier, Frédéric Huet, Laurence Faivre, Jean-Raymond Teyssier, Ahmad S. Teebi, Pascale Saugier-Veber, Patrick Callier, Valérie Layet, Thierry Frebourg, James Lespinasse, Francine Mugneret, Christel Thauvin-Robinet, Michèle Mathieu
Publikováno v:
Human Mutation. 30:E320-E329
Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ba0e195e1336faa577878ab2b082e53
https://doi.org/10.1002/humu.20888
https://doi.org/10.1002/humu.20888
Autor:
Ahmad S. Teebi, Angelika Lindinger, Vanya D. Peltekova, Syed H.E. Zaidi, Sascha Meyer, Muhammad Faiyaz-Ul-Haque
Publikováno v:
European Journal of Pediatrics. 168:867-870
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6014bbc1da645ed3e4f750501b9a768
https://doi.org/10.1007/s00431-008-0839-2
https://doi.org/10.1007/s00431-008-0839-2
Autor:
Carlos Eduardo Steiner, Nadia Al-Torki, Maximilian Muenke, Elaine H. Zackai, H. Wolfgang Losken, J. Siegel-Bartelt, John B. Mulliken, Felicitas Lacbawan, John C. Carey, John B. Moeschler, Dolores Saavedra, Stephen Cantrell, Luther K. Robinson, Nathaniel H. Robin, Deeann Wallis, Ahmad S. Teebi, Vazken M. Der Kaloustian, Mahim Jain, Virginia K. Proud, Donald Day, Dorit Lev, H. Eugene Hoyme, Ilkka Kaitila
Publikováno v:
American Journal of Medical Genetics Part A. :2008-2012
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9d5a87307671271328aa1991b0b6e0
https://doi.org/10.1002/ajmg.a.32388
https://doi.org/10.1002/ajmg.a.32388
Autor:
M. Y. El-Khalifa, K. K. Naguib, Ahmad S. Teebi, Talaat I. Farag, el-Dossary L, Mohamed A.A. Moussa, S. A. Al-Awadi
Publikováno v:
Clinical Genetics. 27:483-486
A total of 5,007 Kuwaitis were ascertained to study the incidence of consanguineous marriages during 1983. The rate of consanguineous mating was found to be 54.3% with estimated population incidence rates 52.9 to 55.7%. First cousin marriages were th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27115fbe84270e5330fa955f241ec9c7
https://doi.org/10.1111/j.1399-0004.1985.tb00236.x
https://doi.org/10.1111/j.1399-0004.1985.tb00236.x
Autor:
Funda Öztuna, Chao-Wen Chen, Alireza Mirahmadizadeh, John R. Buscombe, Hatice Yildirim, F.M. Yacoub, Gamze Goksel, Halil Kavgaci, Nasser Yehia A. Aly, Jan-Sing Hsieh, Gopinath Gnanasegaran, Ruchan Uslu, Adel Ghali, Nouzar Nakhaee, Birsen Karaca Saydam, Najla Taslim, M. Muharrem Erol, Mohammed Bessisso, Charles I. Ezeamuzie, Mohammad A. Ali, Esra Korkmaz, Uğur Atik, Wen-Ming Wang, S.H.G. Ali, Osman Zekioglu, Ulus Ali Sanli, Jaw-Yuan Wang, E. Al-Matar, Andrew J.W. Hilson, Yu-Chung Su, Baker Al-Zoabi, Razna Al Qahtani, Abdulbari Bener, Ahmad S. Teebi, Prem A. Nagaraja, Augustine U. Orjih, Hamit Z. Aksoy, Abdullahi Fido, Safak Ersoz, Canfeza Sezgin, Preethi Cherian, Savas Ozsu, Nehir Sucu, Jeng-Yih Wu, Suad AlFadhli, Surreya Mahomed, Lülüfer Tamer, Anne-Marie Quigley, Reda A. Abo Lila, Murat Kapkac, Saud Al-Obaidi, Hadeel N. Salmeen
Publikováno v:
Medical Principles and Practice. 17:I-VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f867cea90c4741c91e9a37bf93e1e2e
https://doi.org/10.1159/000162786
https://doi.org/10.1159/000162786
Publikováno v:
Medical Principles and Practice. 17:440-446
Objective: The objective of the present study was to find the prevalence of attention deficit hyperactivity (ADH) symptoms in a sample of primary schoolchildren in Qatar and investigate the behaviour of the children with and without ADH symptoms in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::653161f84d1e44f67714169c7b7d037b
https://doi.org/10.1159/000151564
https://doi.org/10.1159/000151564
Autor:
A, Abdul Wahab, I A, Janahi, A, Eltohami, A, Zeid, Muhammad, Faiyaz Ul Haque, N F, Ul Haque, A S, Teebi
Publikováno v:
Acta Paediatrica. 92:456-462
Aim: To describe the clinical spectrum of anomalies of a new type of Ehlers-Danlos syndrome in 32 patients from a large inter-related extended family in Qatar. Methods: Among the 32 patients (from 22 families), there were 6 affected pairs of siblings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ea3114532081f274869f3bffc44d97
https://doi.org/10.1111/j.1651-2227.2003.tb00578.x
https://doi.org/10.1111/j.1651-2227.2003.tb00578.x