Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Alaa AlTalbishi"'
1
Akademický článek
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Autor: Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v: Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz: https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
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2
Akademický článek
Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study
Autor: Orjowan Shalabi, Zaher Nazzal, Muath Natsheh, Salam Iriqat, Michel Michaelides, Muyassar Ghanem, Alice Aslanian, Yahya Alswaiti, Alaa AlTalbishi
Publikováno v: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Retinitis pigmentosa (RP) is a heterogeneous group of inherited ocular diseases that result in progressive retinal degeneration. This study aims to describe different Swept-source Optical Coherence Tomographic (SS-OCT) changes in
Externí odkaz: https://doaj.org/article/1dc04b7067574fb8b0f0fdcb485fa151
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3
Cataract Surgical Services in Palestine
Autor: Alaa AlTalbishi, Covadonga Bascaran, Allen Foster, Maged Abu Ramada, Ranad Maswadi, Gerry Clare
Publikováno v: Ophthalmic Epidemiology. 29:223-231
PURPOSE: Cataract surgery, quantity and quality, is an indicator of ophthalmic care. A comprehensive assessment of cataract surgical services has never been carried out in Palestine, including West Bank, Gaza Strip and East Jerusalem. The objective o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194e3727712ec6e7cae63abe4e6ceea9
https://doi.org/10.1080/09286586.2021.1923755
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4
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History
Autor: Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides
Publikováno v: American journal of ophthalmology. 246
To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.Multicenter international retrospective cohort study.Review of clinical notes, ophthalmic images, and genetic testing results of 104 patient
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fcb9637fc295e4b91df4c48339d2510
https://pubmed.ncbi.nlm.nih.gov/36099972
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5
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis
Autor: Mor Hanany, Oded Volovelsky, Claudia Yahalom, Michal Macarov, Alaa AlTalbishi, Muhammad Imran Khan, Dror Sharon, Irene Anteby, Samer Khateb, Frans P.M. Cremers, Yahya Alsweiti, Eyal Banin, Nina Schneider
Publikováno v: Retina-The Journal of Retinal and Vitreous Diseases, 41, 10, pp. 2179-2187
Retina-The Journal of Retinal and Vitreous Diseases, 41, 2179-2187
Item does not contain fulltext PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Løken syndrome. METHODS: A retrospective study of patients with Senior-Løken syndrom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8573dc79d5d0126e6db7a5209bd64858
https://hdl.handle.net/2066/237903
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6
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Autor: Zelia Corradi, Manar Salameh, Mubeen Khan, Elise Héon, Ketan Mishra, Rebekkah J. Hitti-Malin, Yahya AlSwaiti, Alice Aslanian, Eyal Banin, Brian P. Brooks, Wadih M. Zein, Robert B. Hufnagel, Susanne Roosing, Claire‐Marie Dhaenens, Dror Sharon, Frans P. M. Cremers, Alaa AlTalbishi
Publikováno v: Investigative Ophthalmology and Visual Science, 63
Investigative Ophthalmology and Visual Science, 63, 4
Contains fulltext : 251966.pdf (Publisher’s version ) (Open Access) PURPOSE: The effect of noncoding variants is often unknown in the absence of functional assays. Here, we characterized an ABCA4 intron 7 variant, c.859-25A>G, identified in Palesti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5cfedd16596e1df749c92b9624515d
http://hdl.handle.net/2066/251966
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7
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor: Rachel M. Huckfeldt, Kinga M. Bujakowska, Mariana Neves, Erin Zampaglione, Andrew R. Webster, Anne B. Fulton, Iris Deitch, Vincent Dunet, Rola Ba-Abbad, Michel Michaelides, Gavin Arno, Virginie G. Peter, Eric A. Pierce, Emily Place, Eyal Banin, Boris Rosin, Mathieu Quinodoz, Carlo Rivolta, Tamar Ben-Yosef, Dror Sharon, Riccardo Sangermano, Naomi E Wagner, Ana Berta Sousa, Alaa AlTalbishi, Luisa Coutinho-Santos, Anna Larson
Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a91751e9631c3764b5f987a508bf6d7
https://doi.org/10.1038/s41525-021-00214-8
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8
Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study
Autor: Yahya AlSwaiti, Salam Iriqat, Orjowan Shalabi, Michel Michaelides, Muyassar Ghanem, Alice Aslanian, Alaa AlTalbishi, Zaher Nazzal, Muath Natsheh
Publikováno v: BMC Ophthalmology
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)
Background Retinitis pigmentosa (RP) is a heterogeneous group of inherited ocular diseases that result in progressive retinal degeneration. This study aims to describe different Swept-source Optical Coherence Tomographic (SS-OCT) changes in Palestini
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56327269cb1fbcf18e869c73303b8a83
https://pubmed.ncbi.nlm.nih.gov/34320936
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10
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Autor: Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin
Publikováno v: Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3bc891c1991aee449da207a212dba0
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