Výsledky vyhledávání - "Alaa Abu-Diab"

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

Autor: Alaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, Marije de Jong, Alexey Obolensky, Ayat Khalaileh, Manar Salameh, Ayala Ejzenberg, Menachem Gross, Eyal Banin, Dror Sharon, Samer Khateb

Publikováno v: Translational Vision Science & Technology. 12:3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9742e9074e4c4d90bf8e62d86e471a3d
https://doi.org/10.1167/tvst.12.3.3

Zobrazit plný text záznamu

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

Autor: Alaa AlTalbishi, Moien Kanaan, Boris Rosin, Itay Chowers, Lara Kamal, Alaa Abu Diab, Eyal Banin, Samer Khateb, Anand Swaroop, Dror Sharon

Publikováno v: Acta ophthalmologica. 97(6)

PURPOSE To identify the accurate clinical diagnosis of rare syndromic inherited retinal diseases (IRDs) based on the combination of clinical and genetic analyses. METHODS Four unrelated families with various autosomal recessive syndromic inherited re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492d6124124f1df41865749f78a3d303
https://pubmed.ncbi.nlm.nih.gov/30925032

Zobrazit plný text záznamu

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Autor: Samer Khateb, Alaa Abu-Diab, Ayat Khalaileh, Yahya AlSwaiti, Annick Raas-Rothschild, Eyal Banin, Tamar Ben-Yosef, Itay Chowers, Dror Sharon, Israela Lerer

Publikováno v: Investigative ophthalmologyvisual science. 59(2)

Purpose Usher syndrome (USH) is the most common cause for deaf-blindness. It is genetically and clinically heterogeneous and prevalent in populations with high consanguinity rate. We aim to characterize the set of genes and mutations that cause USH i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627996176dca42ada96fb48c7996662d
https://pubmed.ncbi.nlm.nih.gov/29490346

Zobrazit plný text záznamu

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

Autor: Sanne Broekman, Irina Lagovsky, Lina Basel-Vanagaite, Erwin van Wijk, Shay Tzur, Eyal Banin, Erik de Vrieze, Pola Smirin-Yosef, Lonneke Haer-Wigman, Dror Sharon, Samer Khateb, Monika Weisz Hubshman, Frans P.M. Cremers, Alaa Abu-Diab

Publikováno v: Human Molecular Genetics, 27, 4, pp. 614-624
Human Molecular Genetics, 27, 614-624

Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is associated with different groups of genes, including those encoding proteins involved in centriole and cilium biogenesis. Exome sequencing revealed a homozygous non

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71c10e70ecb0c1bd167b011d0f775d7
https://pubmed.ncbi.nlm.nih.gov/29272404

Zobrazit plný text záznamu

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

Autor: Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Samer Khateb, Mor Hanany, Segev Meyer, Avigail Beryozkin, Sari Lieberman, Ayat Khalaileh, Dror Sharon, Eyal Banin, Fathieh Abu Turky, Alaa Abu-Diab

Publikováno v: Journal of medical genetics. 53(9)

Background Inherited retinal degenerations (IRDs) are a common cause of visual disturbance with a high clinical and genetic heterogeneity. Recent sequencing techniques such as whole exome sequencing (WES) contribute to the discovery of novel genes. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b8249814d93985822ddfbadaa5031f
https://pubmed.ncbi.nlm.nih.gov/27208209

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání