Genomic Landscape of Sporadic Retinitis Pigmentosa
- 1 August 2019
- journal article
- research article
- Published by Elsevier in Ophthalmology
- Vol. 126 (8) , 1181-1188
Abstract
No abstract availableKeywords
Funding Information
- Instituto de Salud Carlos III
- Center for Biomedical Research Network on Rare Diseases (06/07/0036)
- FIS (PI16/00425)
- IIS-FJD Biobank (PT13/0010/0012)
- Regional Government of Madrid (B2017/BMD37)
- FEDER
- The Spanish National Organization for the Blind
- Spanish Fighting Blindness Foundation
- University Chair UAM-IIS-FJD of Genomic Medicine
- Ramón Areces Foundation
This publication has 33 references indexed in Scilit:
- High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish populationOrphanet Journal of Rare Diseases, 2013
- Mutations in the X-Linked Retinitis Pigmentosa GenesRPGRandRP2Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis PigmentosaInvestigative Ophthalmology & Visual Science, 2013
- Mutations inRPGRandRP2Account for 15% of Males with Simplex Retinal Degenerative DiseaseInvestigative Ophthalmology & Visual Science, 2012
- Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive RetinitisOphthalmology, 2012
- Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General PopulationPLOS ONE, 2012
- Next‐generation genetic testing for retinitis pigmentosaHuman Mutation, 2012
- Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophiesJournal of Clinical Investigation, 2010
- Retinitis pigmentosa and allied conditions today: a paradigm of translational researchGenome Medicine, 2010
- Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt diseaseBritish Journal of Ophthalmology, 2008
- Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 AlleleThe American Journal of Human Genetics, 1997