Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Stavit Allon Shalev"'
Autor:
Tom Walsh, Silvia Casadei, Ofer Isakov, Mary Claire King, Matthew W. Kelley, Noa Ruhrman-Shahar, Eiríkur Steingrímsson, Maria Birkan, Mor Bordeynik-Cohen, Ronna Hertzano, Nadra Samra, Morad Khayat, Nada Danial-Farran, Naama Zvi, Zippora Brownstein, Moshe Frydman, Elon Pras, Ophir Handzel, Moien Kanaan, Fabio Tadeu Arrojo Martins, Michal Macarov, Noam Shomron, Asgeir O. Arnthorsson, Bella Davidov, Doaa Ali-Naffaa, Michal Sagi, Lara Kamal, Reuven Sharony, Lina Basel-Salmon, Ming K. Lee, Meirav Sokolov, Weise Chang, Ory Madgar, Michael Wolf, Dorit Lev, Karen B. Avraham, Hagit Baris-Feldman, Dror Gilony, Ryan J. Carlson, Hana Poran, Noga Lipschitz, Shahar Taiber, Suleyman Gulsuner, Amal Abu-Rayyan, Stavit Allon-Shalev, Chana Vinkler, Amihood Singer, Amir Peleg, Efrat Sofrin‐Drucker, Mordechai Shohat
Publikováno v:
Clin Genet
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84df7512b560e32da80d89b20de85d7
https://doi.org/10.1111/cge.13817
https://doi.org/10.1111/cge.13817
Autor:
Michael Ziv, Natalia Edison, Judith Krausz, Morad Khayat, Akiharu Kubo, Eran Cohen-Barak, Moran Barcan, Lisa M. Godsel, Wassim Azzam, Nada Danial-Farran, Maysa Hriesh, Jennifer L. Koetsier, Stavit Allon-Shalev, Chen Gafni-Amsalem
Publikováno v:
Exp Dermatol
Acral peeling skin syndrome (APSS) is a heterogenous group of genodermatoses, manifested by peeling of palmo-plantar skin and occasionally associated with erythema and epidermal thickening. A subset of APSS is caused by mutations in protease inhibito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdea3f669eb63576970af6ae3fbfa140
https://pubmed.ncbi.nlm.nih.gov/34379845
https://pubmed.ncbi.nlm.nih.gov/34379845
Autor:
Noam Shomron, Mor Bordeynik-Cohen, Lara Kamal, Dror Gilony, Ryan J. Carlson, Morad Khayat, Asgeir Orn Arnporsson, Tom Walsh, Silvia Casadei, Naama Zvi, Noga Lipschitz, Hana Poran, Michal Sagi, Maria Birkan, Weise Chang, Ory Madgar, Amihood Singer, Shahar Taiber, Ronna Hertzano, Noa Ruhrman-Shahar, Ophir Handzel, Eiríkur Steingrímsson, Moien Kanaan, Michael Wolf, Hagit Baris-Feldman, Amir Peleg, Chana Vinkler, Bella Davidov, Michal Macarov, Stavit Allon-Shalev, Nadra Samara, Ming Lee, Reuven Sharony, Meirav Sokolov, Elon Pras, Karen B. Avraham, Zippora Brownstein, Fabio Tadeu Arrojo Martins, Efrat Sofrin, Matthew W. Kelley, Dorit Lev, Mordechai Shohat, Moshe Frydman, Lina Basel-Salmon, Ofer Isakov, Mary Claire King, Nada Danial-Farran, Amal Abu Rayyan, Suleyman Gulsuner, Doaa Ali-Naffaa
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21fce4c73e992b5baf03f30eb98b1863
https://doi.org/10.1101/2020.06.11.144790
https://doi.org/10.1101/2020.06.11.144790
Autor:
Ofer Sarig, Liat Samuelov, Stavit Allon Shalev, Gilles G. Lestringant, J. Mohamad, Eran Cohen Barak, Shahar Taiber, Eli Sprecher
Publikováno v:
Experimental Dermatology. 27:787-790
Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe er
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d522d5e57af741e4f7211573705b59
https://doi.org/10.1111/exd.13551
https://doi.org/10.1111/exd.13551
Autor:
Lucia Zalman, Morad Khayat, Ariel Koren, Stavit Allon Shalev, Ihsan Salama, Hagit Hauschner, Nurit Rosenberg, Boris Shenkman, Carina Levin, Etheresia Pretorius, Orly Elpeleg
Publikováno v:
Journal of Thrombosis and Haemostasis. 13:1285-1292
SummaryBackground The FYB gene encodes adhesion and degranulation-promoting adaptor protein (ADAP), a hematopoietic-specific protein involved in platelet activation, cell motility and proliferation, and integrin-mediated cell adhesion. No ADAP-relate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d25c807614b2177b60668d86267803
https://doi.org/10.1111/jth.12966
https://doi.org/10.1111/jth.12966
Autor:
Esmael Atamany, Rajech Sharkia, Abdelnaser Zalan, Jalal Tarabeia, Muhammad Athamna, Stavit Allon-Shalev
Publikováno v:
Prenatal Diagnosis. 35:370-375
Objectives To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. Methods A case–control study was conducted among 414 pregnant Arab women who were referred by a family physician or a per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d11293a72e999454e0484c5daab7d008
https://doi.org/10.1002/pd.4550
https://doi.org/10.1002/pd.4550
Publikováno v:
American Journal of Medical Genetics Part A. :3091-3094
Most autosomal recessive diseases are rare in the general population, but in genetically isolated communities specific condition might be frequent, mainly due to founder effect. Recognition of common inherited disorders in defined populations may be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23637f4d44547f997cca0c771d578df3
https://doi.org/10.1002/ajmg.a.33746
https://doi.org/10.1002/ajmg.a.33746
Autor:
Zvi Zadik, Idit Lavi, Yardena Tenenbaum-Rakover, Ora Hess, Yasir Hujeirat, Michael Wajnrajch, Stavit Allon-Shalev
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 92:4387-4393
Context: G to A transition at position 6664 (G6664A) in human GH-1 results in the substitution of arginine by histidine at position 183 (R183H) of the GH molecule and causes familial isolated GH deficiency type II (IGHD II). Objectives: The objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37aeb238bddf3709465f227d4bedd342
https://doi.org/10.1210/jc.2007-0684
https://doi.org/10.1210/jc.2007-0684
Autor:
Osnat Admoni, Naama Schwartz, Samuell Refetoff, Dani Bercovich, Ahmad Hag-Dahood Mahameed, Shlomo Almashanu, Stavit Allon-Shalev, Yardena Tenenbaum-Rakover, Ora Hess
Background: Loss-of-function mutations in the thyrotropin receptor (TSHR) gene lead to resistance to TSH (RTSH) presenting with either congenital hypothyroidism (CH) or subclinical hypothyroidism (SCH). Despite several reports of patients with TSHR m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303b4d2363aef46b127fc5d8b4eae2f4
https://europepmc.org/articles/PMC4361004/
https://europepmc.org/articles/PMC4361004/