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Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa
Three additional genes, the RPE retinal G protein coupled receptor ( RGR ), the cellular retinol binding protein ( CRBP1 ), and … indicate that other genes play a part in the degeneration process of the retina in the remaining families.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
These results are in line with recent evidence of the existence of intermediate phenotypes in PRS-I deficiency syndromes and demonstrate that females can exhibit a disease phenotype as severe and complex as their male counterparts.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
This study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented, and has important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
- M. Martínez-Gimeno, M. J. Gamundi, M. Carballo
- Biology, MedicineInvestigative ophthalmology & visual science
- 1 May 2003
Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population.
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
- M. Cortón, Sorina D. Tatu, C. Ayuso
- Medicine, BiologyOrphanet Journal of Rare Diseases
- 5 February 2013
This study represents the most complete mutational screening of CRB1 in a Spanish LCA and EORP cohort, allowing us to establish gene-specific frequencies and to provide a wide spectrum ofCRB1 mutations in the Spanish population.
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
- I. Martín-Mérida, Domingo Aguilera-Garcia, C. Ayuso
- Medicine, BiologyInvestigative ophthalmology & visual science
- 1 May 2018
This study established the molecular characterization rate, gene prevalence, and mutational spectrum in the largest European cohort reported to date of autosomal dominant retinitis pigmentosa (adRP), and highlights the implication of CNVs as important contributors to adRP etiology.
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
The presence of two different phenotypes associated with mutations in two distinct genes in one single family must be considered especially when dealing with retinal dystrophies which bear high carrier frequencies in general population.