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Acta Ophthalmologica|November 20, 2014
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 familiesPatricia Fernandez-San Jose, Fiona Blanco-Kelly, Marta Corton, et al.
Rheumatology (Oxford, England)|February 7, 2014
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutationNicolás Alejandre, Ana Ruiz-Palacios, Angel M García-Aparicio, et al.
Molecular Vision|December 15, 2010
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarrayAlmudena Ávila-Fernández, Diego Cantalapiedra, Elena Aller, et al.
Orphanet Journal of Rare Diseases|October 19, 2011
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsGema Garcia-Garcia, Maria J Aparisi, Teresa Jaijo, et al.
Plos One|June 19, 2018
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish familiesRaquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, et al.
Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
Orphanet Journal of Rare Diseases|August 15, 2020
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesisAndrey V Marakhonov, Anna A Voskresenskaya, Maria Jose Ballesta, et al.
American Journal of Ophthalmology|May 27, 2019
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, et al.
Acta Ophthalmologica|February 12, 2021
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trialsLilián Galbis-Martínez, Fiona Blanco-Kelly, Gema García-García, et al.
Molecular Vision|May 10, 2011
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophiesMaria Garcia-Hoyos, Carmen Laura Auz-Alexandre, Berta Almoguera, et al.
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