Detalhe da pesquisa
1.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci
; 25(5)2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474159
2.
Efficacy, safety and cost-effectiveness of 5-fluorouracil versus interferon α-2b as adjuvant therapy after surgery in ocular surface squamous neoplasia in a southern European tertiary hospital.
Int Ophthalmol
; 44(1): 184, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630143
3.
Pinhole amniotic membrane for peripheral corneal defects in patients with a single eye or low vision.
Int Ophthalmol
; 42(7): 2079-2083, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993843
4.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Exp Eye Res
; 212: 108761, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492281
5.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
6.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology
; 126(8): 1181-1188, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30902645
7.
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Hum Mol Genet
; 24(14): 4037-48, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25882705
8.
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Ophthalmology
; 121(1): 399-407, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24144451
9.
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Ophthalmology
; 121(8): 1620-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24697911
10.
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Ophthalmology
; 120(11): 2332-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23755871
11.
Risk of Intraocular Lens Opacification After Endothelial Keratoplasty for Different Intraocular Lens Models: A Retrospective Single-Center Cohort Study.
Cornea
; 42(7): 797-804, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633939
12.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327959
13.
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
Br J Ophthalmol
; 2023 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852740
14.
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
Ophthalmology
; 119(12): 2616-21, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22917891
15.
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Eur J Ophthalmol
; : 11206721221138891, 2022 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380535
16.
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Invest Ophthalmol Vis Sci
; 63(2): 11, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35119454
17.
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
NPJ Genom Med
; 7(1): 41, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35835773
18.
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Mol Vis
; 17: 1103-9, 2011 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21552474
19.
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Acta Ophthalmol
; 99(8): 922-930, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576163
20.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep
; 11(1): 1526, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452396