Genomic Landscape of Sporadic Retinitis Pigmentosa-Reference-Cited by-同舟云学术

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Genomic Landscape of Sporadic Retinitis Pigmentosa

Published:2019-08 Issue:8 Volume:126 Page:1181-1188
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Martin-Merida Inmaculada,Avila-Fernandez Almudena,Del Pozo-Valero Marta,Blanco-Kelly Fiona,Zurita Olga,Perez-Carro Raquel,Aguilera-Garcia Domingo,Riveiro-Alvarez Rosa,Arteche Ana,Trujillo-Tiebas Maria Jose,Tahsin-Swafiri Saoud,Rodriguez-Pinilla Elvira,Lorda-Sanchez Isabel,Garcia-Sandoval Blanca,Corton Marta,Ayuso Carmen

Funder

Instituto de Salud Carlos III

Center for Biomedical Research Network on Rare Diseases

FIS

IIS-FJD Biobank

Regional Government of Madrid

FEDER

The Spanish National Organization for the Blind

Spanish Fighting Blindness Foundation

University Chair UAM-IIS-FJD of Genomic Medicine

Ramon Areces Foundation

Publisher

Elsevier BV

Subject

Ophthalmology

Reference36 articles.

1. A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010;Liew;BMJ Open,2014

2. Prevalence and causes of visual field loss in the elderly and associations with impairment in daily functioning: the Rotterdam Study;Ramrattan;Arch Ophthalmol,2001

3. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies;den Hollander;J Clin Invest,2010

4. Retinitis pigmentosa;Hamel;Orphanet J Rare Dis,2006

5. Retinitis pigmentosa and allied conditions today: a paradigm of translational research;Ayuso;Genome Med,2010

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1. Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy;American Journal of Ophthalmology;2024-11

2. Frequent genetic variants of autosomal recessive non-syndromic forms of inherited retinal diseases in the Russian Federation;Генетика;2024-09-11

3. Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences;International Journal of Molecular Sciences;2024-06-03

4. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene;Mobile DNA;2024-05-04

5. Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation;Russian Journal of Genetics;2024-04

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