Prevalence ofRhodopsinmutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families-Reference-Cited by-同舟云学术

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Prevalence ofRhodopsinmutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

Published:2014-11-18 Issue:1 Volume:93 Page:e38-e44
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Fernandez-San Jose Patricia¹²,Blanco-Kelly Fiona¹²,Corton Marta¹²,Trujillo-Tiebas Maria-Jose¹²,Gimenez Ascension¹²,Avila-Fernandez Almudena¹²,Garcia-Sandoval Blanca²³,Lopez-Molina Maria-Isabel²³,Hernan Inma⁴,Carballo Miguel⁴,Riveiro-Alvarez Rosa¹²,Ayuso Carmen¹²

Affiliation:

1. Department of Genetics; Health Research Institute Fundacion Jimenez Diaz; University Hospital (IIS-FJD, UAM); Madrid Spain

2. Centre for Biomedical Network Research on Rare Diseases CIBERER; ISCIII; Madrid Spain

3. Department of Ophthalmology; Health Research Institute Fundacion Jimenez Diaz; University Hospital (IIS-FJD, UAM); Madrid Spain

4. Molecular Genetics Unit; Hospital de Terrassa; Terrassa Barcelona Spain

Funder

FJD-Biobanco

Services of Genetics and Ophthalmology IIS-Fundacion Jimenez Diaz, Madrid

CIBER-ER

FIS

Rio Hortega

Miguel Servet

ONCE & Fundaluce

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Reference45 articles.

1. Six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine);Andréasson;Ophthalmic Paediatr Genet,1992

2. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients;Audo;Invest Ophthalmol Vis Sci,2010

3. Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa;Ayuso;Clin Genet,1995

4. G106R rhodopsin mutation is also present in Spanish ADRP patients;Ayuso;Ophthalmic Genet,1996

5. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine;Berson;Am J Ophthalmol,1991

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1. Prevalence estimates and genetic diversity for autosomal dominant retinitis pigmentosa due to RHO, c.68C>A (p.P23H) variant;American Journal of Ophthalmology;2024-09

2. 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

3. Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa;Ophthalmic Genetics;2024-01-29

4. Recent progress in CRISPR/Cas9 system for eye disorders;Progress in Molecular Biology and Translational Science;2024

5. Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population;Japanese Journal of Ophthalmology;2023-12-09

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