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1.
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
J Transl Med
; 18(1): 73, 2020 02 12.
Article
in English
| MEDLINE | ID: mdl-32050993
2.
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Int J Mol Sci
; 21(24)2020 Dec 08.
Article
in English
| MEDLINE | ID: mdl-33302505
3.
Wrap53, a Natural p53 Antisense Transcript Required for p53 Induction upon DNA Damage.
Mol Cell
; 64(5): 1009, 2016 12 01.
Article
in English
| MEDLINE | ID: mdl-27912092
4.
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Mol Biol Evol
; 33(5): 1205-18, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26764160
5.
Wrap53, a natural p53 antisense transcript required for p53 induction upon DNA damage.
Mol Cell
; 33(4): 462-71, 2009 Feb 27.
Article
in English
| MEDLINE | ID: mdl-19250907
6.
Novel small RNA expression libraries uncover hsa-miR-30b and hsa-miR-30c as important factors in anoikis resistance.
RNA
; 19(12): 1711-25, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24129493
7.
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
Am J Med Genet A
; 167(7): 1597-600, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25823529
8.
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
BMC Genet
; 15: 143, 2014 Dec 14.
Article
in English
| MEDLINE | ID: mdl-25494902
9.
Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
Mob DNA
; 15(1): 9, 2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38704576
10.
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Mol Vis
; 19: 2187-95, 2013.
Article
in English
| MEDLINE | ID: mdl-24227914
11.
Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.
Front Cell Dev Biol
; 11: 1197744, 2023.
Article
in English
| MEDLINE | ID: mdl-37547476
12.
Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study.
Rev Esp Cardiol (Engl Ed)
; 76(6): 434-443, 2023 Jun.
Article
in English, Spanish
| MEDLINE | ID: mdl-36307044
13.
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
NPJ Genom Med
; 7(1): 17, 2022 Mar 04.
Article
in English
| MEDLINE | ID: mdl-35246562
14.
Unusual clinical phenotype of Stargardt disease.
Arq Bras Oftalmol
; 84(4): 391-394, 2021.
Article
in English
| MEDLINE | ID: mdl-34008801
15.
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
Sci Rep
; 8(1): 13312, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30190494
16.
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Sci Rep
; 7: 41937, 2017 02 03.
Article
in English
| MEDLINE | ID: mdl-28157192
17.
The p53-induced Wig-1 protein binds double-stranded RNAs with structural characteristics of siRNAs and miRNAs.
FEBS Lett
; 580(18): 4401-8, 2006 Aug 07.
Article
in English
| MEDLINE | ID: mdl-16844115
18.
The p53-induced mouse zinc finger protein wig-1 binds double-stranded RNA with high affinity.
Nucleic Acids Res
; 30(9): 1991-6, 2002 May 01.
Article
in English
| MEDLINE | ID: mdl-11972337
19.
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
Sci Rep
; 6: 23910, 2016 Apr 01.
Article
in English
| MEDLINE | ID: mdl-27032803
20.
Unusual clinical phenotype of Stargardt disease / Fenótipo clínico incomum da doença de Stargardt
Arq. bras. oftalmol
; 84(4): 391-394, July-Aug. 2021. tab, graf
Article
in English
|
LILACS-Express
| ID: biblio-1285306