Genetic and Clinical Analyses of the KIZ -c.226C>T Variant Resulting in a Dual Mutational Mechanism.

Autor: Sundaresan Y; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Rivera A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Obolensky A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Gopalakrishnan P; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Ohayon Hadad H; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Shemesh A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Khateb S; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Ross M; Koret School of Veterinary Medicine, The Hebrew University of Jerusalem, Rehovot 76100, Israel., Ofri R; Koret School of Veterinary Medicine, The Hebrew University of Jerusalem, Rehovot 76100, Israel., Durst S; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Newman H; Ophthalmology Division, Tel Aviv Sourasky Medical Center, Affiliated to Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel., Leibu R; Department of Ophthalmology, Rambam Health Care Center, Haifa 31096, Israel., Soudry S; Department of Ophthalmology, Rabin Medical Center, Petah Tikva 49100, Israel., Zur D; Ophthalmology Division, Tel Aviv Sourasky Medical Center, Affiliated to Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel., Ben-Yosef T; The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.

Publikováno v: Genes [Genes (Basel)] 2024 Jun 18; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 18.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

Autor: Yosef, Tamar Ben, Banin, E., Chervinsky, Elana, Shalev, S.A., Leibu, R., Mezer, E., Khan, M.I., Panneman, D.M., Hitti-Malin, R.J., Roosing, S., Cremers, F.P.M., Sharon, D., Ehrenberg, M.

Publikováno v: Molecular Vision, 29, pp. 1-12
Molecular Vision, 29, 1-12

Item does not contain fulltext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::048e78edb8c8226c414d5b4e04314d58
https://repository.ubn.ru.nl/handle/2066/293182

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Autor: Ben Yosef T; Rappaport Faculty of Medicine, Technion, Haifa, Israel., Banin E; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel., Chervinsky E; Genetics Institute, Emek Medical Center, Afula, Israel., Shalev SA; Rappaport Faculty of Medicine, Technion, Haifa, Israel.; Genetics Institute, Emek Medical Center, Afula, Israel., Leibu R; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel., Mezer E; Rappaport Faculty of Medicine, Technion, Haifa, Israel.; Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel., Rotenstreich Y; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Goldenberg-Cohen N; Rappaport Faculty of Medicine, Technion, Haifa, Israel.; Department of Ophthalmology, Bnai Zion Medical Center, Haifa, Israel.; The Krieger Eye Research Laboratory, Petach Tikva, Israel., Weiss S; The Krieger Eye Research Laboratory, Petach Tikva, Israel., Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Weiner C; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ophthalmology Department, Shamir Medical Center, Zerifin, Israel., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pras E; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ophthalmology Department, Shamir Medical Center, Zerifin, Israel., Zur D; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Newman H; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Deitch I; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Ophthalmology, Rabin Medical Center, Petach Tikva, Israel., Sharon D; Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel., Ehrenberg M; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Ophthalmology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Publikováno v: Molecular vision [Mol Vis] 2023 Apr 22; Vol. 29, pp. 1-12. Date of Electronic Publication: 2023 Apr 22 (Print Publication: 2023).

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

Autor: Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel., Kreuder F; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA., Duvdevani MP; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Tammer L; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Xin B; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Rice J; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia., van Eyk CL; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia., Gecz J; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia., Mah JK; Department of Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Atkinson D; Max Planck Institute of Immunobiology and Epigenetics, Freiburg 79108, Germany; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2000, Belgium., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Douek AM; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Colquhoun D; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Henry J; School of Science, RMIT University, Melbourne, VIC 3000, Australia., Wlodkowic D; School of Science, RMIT University, Melbourne, VIC 3000, Australia., Parman Y; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey., Candayan A; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul 34342, Turkey., Kocasoy-Orhan E; Pediatric Radiology Unit, Rambam Health Care Campus, Haifa 3525408, Israel., Ilivitzki A; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Pediatric Radiology Unit, Rambam Health Care Campus, Haifa 3525408, Israel., Soudry S; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Department of Ophthalmology, Rambam Healthcare Campus, Haifa 3525408, Israel., Leibu R; Department of Ophthalmology, Rambam Healthcare Campus, Haifa 3525408, Israel., Glaser F; The Lorry I. Lokey Interdisciplinary Center for Life Sciences and Engineering, Technion - Israel Institute of Technology, Haifa 3200003, Israel., Sency V; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA., Ast G; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Fahey MC; Department of Pediatrics, Monash University, Melbourne, VIC 3800, Australia., Battaloğlu E; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul 34342, Turkey., Jordanova A; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2000, Belgium; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria., Meiner V; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Innes AM; Department of Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Wang H; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA., Kaslin J; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia., Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: hagitbf@tlvmc.gov.il.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Mar 03; Vol. 109 (3), pp. 518-532. Date of Electronic Publication: 2022 Feb 01.

Immunoglobulin G4-related Disease and Pancreatic Malignancy: An Association or Two Independent Processes?

Autor: Tocut M; Department of Internal Medicine C, Wolfson Medical Center, Holon, Israel.; Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Davidson T; Department of Nuclear Medicine, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Leibu R; Department of Internal Medicine B, Sheba Medical Center, Tel Hashomer, Israel., Amital H; Department of Internal Medicine B, Sheba Medical Center, Tel Hashomer, Israel.; Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Shoenfeld Y; Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel.; Ariel University, Ariel, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Laboratory of the Mosaics of Autoimmunity, I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Moscow, Russia., Shovman O; Department of Internal Medicine B, Sheba Medical Center, Tel Hashomer, Israel.; Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Publikováno v: The Israel Medical Association journal : IMAJ [Isr Med Assoc J] 2021 Nov; Vol. 23 (11), pp. 748-750.