Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yasmin Tatour"'
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef
Publikováno v:
Molecular Vision, Vol 25, Iss 1, Pp 155-164 (2019)
Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coher
Externí odkaz:
https://doaj.org/article/94c117db1aaf469d96cce335fc19220f
Autor:
Yasmin Tatour, Tamar Ben-Yosef
Publikováno v:
Diagnostics, Vol 10, Iss 10, p 779 (2020)
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are asso
Externí odkaz:
https://doaj.org/article/8c6643c1f6404ab397e77f961bd2b950
Autor:
Tamar Koren, Fadia Zagairy, Yasmin Tatour, Hila Belhanes‐Peled, Morad Khayat, Judit Krausz, Nada Danial‐Farran, Michael Ziv, Eran Cohen‐Barak
Publikováno v:
Experimental dermatologyREFERENCES. 31(12)
Inherited epidermolysis bullosa (EB) simplex is a heterogeneous group of skin fragility disorders caused by mutations in genes encoding cell-cell or cell-matrix adhesion proteins. A recently identified, rare subtype of EB simplex is due to bi-allelic
Autor:
Eran Cohen‐Barak, Bannan Mwassi, Fadia Zagairy, Nada Danial‐Farran, Morad Khayat, Yasmin Tatour, Michael Ziv
Publikováno v:
The Journal of dermatologyREFERENCES. 49(3)
Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These syndromes are characterized by severe skin disease, hearing loss, recurrent infec
Publikováno v:
Human molecular genetics. 29(13)
Mutations in S-phase cyclin A-associated protein in the endoplasmic reticulum (SCAPER) cause a recessively inherited multisystemic disorder whose main features are retinal degeneration and intellectual disability. SCAPER, originally identified as a c
Autor:
Maria Isabel Lopez-Molina, Hakon Hakonarson, Iker Sánchez-Navarro, Elana Chervinsky, Yasmin Tatour, Tamar Ben-Yosef, Haithum Gawi, Carmen Ayuso, Saoud Tahsin-Swafiri, Rina Leibu, Guillermo Fernandez-Sanz
Publikováno v:
Journal of Medical Genetics. 54:698-704
Background Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP
Autor:
Yasmin, Tatour, Iker, Sanchez-Navarro, Elana, Chervinsky, Hakon, Hakonarson, Haithum, Gawi, Saoud, Tahsin-Swafiri, Rina, Leibu, Maria Isabel, Lopez-Molina, Guillermo, Fernandez-Sanz, Carmen, Ayuso, Tamar, Ben-Yosef
Publikováno v:
Journal of medical genetics. 54(10)
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been