Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Osama Alsmadi"'
Autor:
Osama Alsmadi, Thangavel Alphonse Thanaraj, Mohamed Abu-Farha, Robert Sladek, Naser Elkum, Janne Pitkäniemi, Fadi Alkayal, Prashantha Hebbar, Rasheeba Iqbal, Sumi Elsa John, Fahd Al-Mulla, Jaakko Tuomilehto, Jehad Abubaker, Arshad Channanath
Publikováno v:
Human Genetics
While the Arabian population has a high prevalence of metabolic disorders, it has not been included in global studies that identify genetic risk loci for metabolic traits. Determining the transferability of such largely Euro-centric established risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b20447b4c28497fd8d6ae134c620961
http://hdl.handle.net/10138/353204
http://hdl.handle.net/10138/353204
Autor:
Ashraf Al Madhoun, Chiara Bacchelli, Irina Al-Khairi, Osama Alsmadi, Motasem Melhem, Phillip L. Beales, Fadi Alkayal, Mohamad Alomari, Sumi Elsa John, Dinu Antony, Mohamed Abu-Farha
Publikováno v:
European Journal of Haematology. 98:218-227
Objective To characterize the underlying genetic and molecular defects in a consanguineous family with life-long blood disorder manifested with thrombocytopenia (low platelets count) and anemia. Methods Genetic linkage analysis, exome sequencing and
Autor:
Maisa M. Ali, Motasem Melhem, Osama Alsmadi, Fadi Alkayal, Abdullah Bennakhi, Massimo Mezzavilla, Naser Elkum, Sara Tomei, Monira Al-Arouj
Publikováno v:
Journal of Translational Medicine
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-6 (2018)
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-6 (2018)
Background Differences in the concentrations of circulating 25-hydroxyvitamin D [25(OH)D] are associated with a wide range of health outcomes; however, most studies on genetic variants that impact 25(OH)D levels have been conducted in European popula
Autor:
Chiara Bacchelli, Motasem Melhem, Kaman Wu, Daisy Thomas, Anant Mashankar, Dinu Antony, Miriam Schmidts, Chela James, Osama Alsmadi, Mike Hubank, Narayanan Nampoory, Philip L. Beales, Kazem Behbehani
Publikováno v:
European Journal of Medical Genetics, 60, 658-666
European Journal of Medical Genetics
European Journal of Medical Genetics, 60, 12, pp. 658-666
European Journal of Medical Genetics
European Journal of Medical Genetics, 60, 12, pp. 658-666
Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ce076a45a21bbe33b134fa00cd46b9
http://hdl.handle.net/2066/250369
http://hdl.handle.net/2066/250369
Autor:
Mike Recher, Osama Alsmadi, Motasem Melhem, Waleed Al-Herz, Francesco Frugoni, Luigi D. Notarangelo
Publikováno v:
Journal of Clinical Immunology. 33:513-519
Major Histocompatibility Complex (MHC) class II deficiency is a combined primary immunodeficiency disease that leads to overwhelming and recurrent infections. It was found to account for 19 % of combined immune deficiency cases in the National Primar
Autor:
Motasem Melhem, Naser Elkum, Jehad Abubaker, Kazem Behbehani, Mohamed Abu-Farha, Osama Alsmadi
Publikováno v:
Lipids in Health and Disease
Background ANGPTL8 (betatrophin) has been recently identified as a regulator of lipid metabolism through its interaction with ANGPTL3. A sequence variant in ANGPTL8 has been shown to associate with lower level of Low Density Lipoprotein (LDL) and Hig
Autor:
Hamoud Al-Mousa, Amer Al-Shehri, Abdulaziz Al-Ghonaium, Osama Alsmadi, Saleh Al-Muhsen, Rand Arnaout, Hasan Al-Dhekri, Ibrahim Al-Mohsen, Bandar Al-Saud, Amal Al-Hemidan, Abdullah Alharbi
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 13:396-399
Introduction Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously sus
Autor:
Salma M. Wakil, Fadi Alkayal, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Fowzan S. Alkuraya, Brian F. Meyer, Haya Al-Saud, Osama Alsmadi
Publikováno v:
European Journal of Human Genetics. 17:14-21
We identified a homozygous missense mutation (c.196G--T) in fibroblast growth factor 3 (FGF3) in 21 affected individuals from a large extended consanguineous Saudi family, phenotypically characterized by autosomal recessive syndromic congenital senso
Autor:
Sumi Elsa John, Osama Alsmadi, Kazem Behbehani, Motasem Melhem, Gaurav Thareja, Fadi Alkayal, Prashantha Hebbar, Thangavel Alphonse Thanaraj
Publikováno v:
American journal of hypertension. 27(7)
Background Recent research illustrates the role of central melanocortin signaling and leptin in the regulation of arterial blood pressure in animal models. Unraveling the genetic basis of interactions between melanocortin and leptin in humans will pr
Publikováno v:
Journal of Obesity
Journal of Obesity, Vol 2013 (2013)
Journal of Obesity, Vol 2013 (2013)
Objective. Kuwait is among the countries with the highest obesity rates worldwide; however, little is known about the state of obesity epidemiology research in Kuwait. In this paper, we therefore review the findings and methodology of studies on the