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1.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci
; 25(5)2024 Mar 02.
Article
in English
| MEDLINE | ID: mdl-38474159
2.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Int J Mol Sci
; 23(15)2022 Jul 29.
Article
in English
| MEDLINE | ID: mdl-35955564
3.
Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.
Exp Eye Res
; 211: 108714, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34390733
4.
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Exp Eye Res
; 207: 108533, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33741323
5.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Exp Eye Res
; 212: 108761, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34492281
6.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology
; 126(8): 1181-1188, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30902645
7.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37327959
8.
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Eur J Ophthalmol
; : 11206721221138891, 2022 Nov 15.
Article
in English
| MEDLINE | ID: mdl-36380535
9.
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.
Article
in English
| MEDLINE | ID: mdl-35119454
10.
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
NPJ Genom Med
; 7(1): 7, 2022 Jan 27.
Article
in English
| MEDLINE | ID: mdl-35087072
11.
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
NPJ Genom Med
; 7(1): 41, 2022 Jul 14.
Article
in English
| MEDLINE | ID: mdl-35835773
12.
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
NPJ Genom Med
; 6(1): 18, 2021 Feb 23.
Article
in English
| MEDLINE | ID: mdl-33623043
13.
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.
Article
in English
| MEDLINE | ID: mdl-33452396
14.
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Am J Ophthalmol
; 219: 195-204, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32619608
15.
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Am J Ophthalmol
; 207: 204-214, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31129250
16.
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Invest Ophthalmol Vis Sci
; 59(6): 2345-2354, 2018 05 01.
Article
in English
| MEDLINE | ID: mdl-29847639
17.
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
PLoS One
; 13(6): e0199048, 2018.
Article
in English
| MEDLINE | ID: mdl-29912909
18.
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Invest Ophthalmol Vis Sci
; 58(2): 1045-1053, 2017 02 01.
Article
in English
| MEDLINE | ID: mdl-28192796
19.
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep
; 11(1): 10340, 2021 May 10.
Article
in English
| MEDLINE | ID: mdl-33972629
20.
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.
Ophthalmic Genet
; 41(1): 90-92, 2020 02.
Article
in English
| MEDLINE | ID: mdl-32039643