Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-23755871
2.
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
em Inglês
| MEDLINE | ID: mdl-21552474
3.
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
em Inglês
| MEDLINE | ID: mdl-21151602
4.
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
Clin Exp Ophthalmol
; 38(5): 489-95, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20649618
5.
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
J Am Heart Assoc
; 8(18): e012875, 2019 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31510873
6.
New type of mutations in three spanish families with choroideremia.
Invest Ophthalmol Vis Sci
; 49(4): 1315-21, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385043
7.
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 49(6): 2709-13, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18515597
8.
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
Mol Vis
; 14: 262-7, 2008 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-18334942
9.
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
em Inglês
| MEDLINE | ID: mdl-18055816
10.
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
em Inglês
| MEDLINE | ID: mdl-18079693
11.
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 47(9): 3777-82, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16936086
12.
Late onset retinitis pigmentosa.
Ophthalmology
; 118(12): 2523-4, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22136677
13.
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Mol Vis
; 11: 705-12, 2005 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-16163268
14.
Evaluation of SFRP1 as a candidate for human retinal dystrophies.
Mol Vis
; 10: 426-31, 2004 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-15235574
15.
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Orphanet J Rare Dis
; 8: 20, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23379534
16.
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Invest Ophthalmol Vis Sci
; 52(9): 6206-12, 2011 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21330655
17.
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Invest Ophthalmol Vis Sci
; 51(5): 2615-9, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19959634
18.
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
em Inglês
| MEDLINE | ID: mdl-19324861
19.
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.
Hum Reprod
; 21(4): 958-66, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16361293