Identification of Novel Mutations in the Ortholog ofDrosophilaEyes Shut Gene (EYS) Causing Autosomal Recessive Retinitis Pigmentosa-Reference-Cited by-同舟云学术

Identification of Novel Mutations in the Ortholog ofDrosophilaEyes Shut Gene (EYS) Causing Autosomal Recessive Retinitis Pigmentosa

Published:2010-08-01 Issue:8 Volume:51 Page:4266
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Abd El-Aziz Mai M.¹,O'Driscoll Ciara A.¹,Kaye Rebecca S.¹,Barragan Isabel²,El-Ashry Mohamed F.¹,Borrego Salud²,Antiñolo Guillermo²,Pang Chi Pui³,Webster Andrew R.⁴,Bhattacharya Shomi S.⁵

Affiliation:

1. From the Department of Genetics, Institute of Ophthalmology, London, United Kingdom;

2. Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain;

3. the Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China;

4. From the Department of Genetics, Institute of Ophthalmology, London, United Kingdom; 4Moorfields Eye Hospital, London, United Kingdom; and

5. From the Department of Genetics, Institute of Ophthalmology, London, United Kingdom; 5CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Parque Científico y Tecnológico Cartuja, Sevilla, Spain.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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1. The New Era of Therapeutic Strategies for the Management of Retinitis Pigmentosa: A Narrative Review of the Pathomolecular Mechanism for Gene Therapies;Cureus;2024-08-13

2. Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa;PLOS ONE;2024-06-24

3. RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT;Retina;2023-10

4. Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study;Scientific Reports;2022-12-13

5. Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa;Translational Vision Science & Technology;2022-07-11