Detalhe da pesquisa
1.
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
2.
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Hum Mutat
; 33(6): 973-80, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22334403
3.
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Neurogenetics
; 12(3): 183-91, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21431957
4.
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Mol Genet Metab
; 102(2): 134-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21094621
5.
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Hum Mutat
; 31(9): 1033-42, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20556797
6.
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
J Inherit Metab Dis
; 33(Suppl 2): S307-14, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20549364
7.
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Mol Genet Metab
; 96(4): 171-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19157943
8.
Hereditary primary lateral sclerosis and progressive nonfluent aphasia.
J Neurol
; 266(5): 1079-1090, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30834979
9.
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.
Cells
; 8(9)2019 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31514470
10.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sci Rep
; 8(1): 5285, 2018 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588463
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192796
12.
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Sci Rep
; 6: 19531, 2016 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26806561
13.
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
PLoS One
; 11(4): e0151943, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27070432
14.
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
PLoS One
; 10(4): e0122966, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25853564
15.
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Invest Ophthalmol Vis Sci
; 56(4): 2173-82, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25698705
16.
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Invest Ophthalmol Vis Sci
; 55(11): 7562-71, 2014 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25342620
17.
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Sci Rep
; 6: 24843, 2016 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102970
18.
Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.
PLoS One
; 10(5): e0128506, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25992811