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
Inglês
| MEDLINE | ID: mdl-25882705
2.
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
BMC Med Genet
; 18(1): 1, 2017 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28061825
3.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Hum Mol Genet
; 23(25): 6797-806, 2014 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-25082829
4.
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
Inglês
| MEDLINE | ID: mdl-23755871
5.
Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort.
Clin Epigenetics
; 15(1): 191, 2023 12 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38093359
6.
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
Inglês
| MEDLINE | ID: mdl-21552474
7.
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Invest Ophthalmol Vis Sci
; 48(12): 5653-61, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18055816
8.
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Mol Vis
; 13: 2160-2, 2007 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-18079693
9.
Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.
Horm Res Paediatr
; 87(2): 88-94, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-27931036
10.
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Sci Rep
; 6: 19531, 2016 Jan 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26806561
11.
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
PLoS One
; 11(4): e0151943, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27070432
12.
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
PLoS One
; 11(2): e0149473, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26910043
13.
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
JAMA Ophthalmol
; 133(2): 133-9, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25356532
14.
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
Inglês
| MEDLINE | ID: mdl-25698705
15.
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
Inglês
| MEDLINE | ID: mdl-25342620
16.
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Sci Rep
; 6: 24843, 2016 04 22.
Artigo
Inglês
| MEDLINE | ID: mdl-27102970
17.
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Invest Ophthalmol Vis Sci
; 50(9): 4342-50, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19324861