A
Adel Shalata
Researcher at Technion – Israel Institute of Technology
Publications - 20
Citations - 1124
Adel Shalata is an academic researcher from Technion – Israel Institute of Technology. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 9, co-authored 14 publications receiving 1042 citations.
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Journal ArticleDOI
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
Hanna Mandel,Raymonde Szargel,Valentina Labay,Orly Elpeleg,Ann Saada,Adel Shalata,Yefim Anbinder,Drora Berkowitz,Corina Hartman,Mila Barak,Staffan Eriksson,Nadine Cohen +11 more
TL;DR: The association of mtDNA depletion with mutated DGUOK suggests that the salvage-pathway enzymes are involved in the maintenance of balanced mitochondrial dNTP pools.
Journal ArticleDOI
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
Valentina Labay,Tal Raz,Dana Baron,Hanna Mandel,Hawys Williams,Timothy Barrett,Raymonde Szargel,Louise McDonald,Adel Shalata,Kazuto Nosaka,Simon G. Gregory,Nadine Cohen +11 more
TL;DR: In this article, the authors identified the TRMA gene by positional cloning and assembled a P1-derived artificial chromosome (PAC) contig spanning the candidate region, and provided 9 new polymorphic markers and narrowed the locus to an approximately 400-kb region.
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Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
Eli Sprecher,Reuven Bergman,Gabriele Richard,Raziel Lurie,Stavit A. Shalev,Dan Petronius,Adel Shalata,Yefim Anbinder,Rina Leibu,Ido Perlman,Nadine Cohen,Raymonde Szargel +11 more
TL;DR: The results establish the molecular etiology of HJMD and implicate for the first time a cadherin molecule in the pathogenesis of a human hair and retinal disorder.
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Intra-familial clinical heterogeneity : Absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel
Yaacov Frishberg,Choni Rinat,Adel Shalata,Ihab Khatib,Sofia Feinstein,Rachel Becker-Cohen,Irit Weismann,Ronald J.A. Wanders,Gill Rumsby,Frank Roels,Hanna Mandel +10 more
TL;DR: The clinical course of patients with PH1 is not dictated primarily by its genotype, and other genetic and/or environmental factors play a role in determining the ultimate phenotype.
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Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.
Lena Sagi-Dain,Idit Maya,Adi Reches,Ayala Frumkin,Julia Grinshpun-Cohen,Reeval Segel,Esther Manor,Morad Khayat,Tamar Tenne,Ehud Banne,Adel Shalata,Hagith Yonath,Racheli Berger,Amihood Singer,Shay Ben-Shachar +14 more
TL;DR: In this paper, the authors examined chromosomal microarray analyses of amniocenteses performed nationwide as a result of fetal ultrasonographic anomalies (structural defects, fetal growth restriction, and polyhydramnios) between January 2013 and September 2017.