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
Inglês
| 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.
Artigo
Inglês
| MEDLINE | ID: mdl-35955564
3.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Exp Eye Res
; 212: 108761, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34492281
4.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Int J Mol Sci
; 22(23)2021 Nov 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34884523
5.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology
; 126(8): 1181-1188, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30902645
6.
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.
Exp Dermatol
; 25(4): 269-74, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26739954
7.
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
J Bone Miner Metab
; 34(5): 599-603, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26275437
8.
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
9.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37327959
10.
Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.
An Pediatr (Engl Ed)
; 97(4): 247-254, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34238712
11.
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
Inglês
| MEDLINE | ID: mdl-35119454
12.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-35087072
13.
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
NPJ Genom Med
; 7(1): 41, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35835773
14.
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
15.
Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field.
Int J Paleopathol
; 34: 20-28, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34098227
16.
[Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment]. / Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato.
An Pediatr (Engl Ed)
; 2021 Jun 10.
Artigo
Espanhol
| MEDLINE | ID: mdl-34120870
17.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-33623043
18.
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
NPJ Genom Med
; 6(1): 25, 2021 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33767182
19.
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.
BMC Med Genet
; 11: 139, 2010 Sep 29.
Artigo
Inglês
| MEDLINE | ID: mdl-20920254
20.
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Mol Vis
; 16: 2550-8, 2010 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-21151602