Detalhe da pesquisa
1.
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
Int J Mol Sci
; 23(13)2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806438
2.
Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
Exp Eye Res
; 187: 107752, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31394102
3.
Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients.
Mol Ther Nucleic Acids
; 32: 64-79, 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36969552
4.
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
Br J Ophthalmol
; 104(2): 173-181, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079053
5.
Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.
Biomedicines
; 8(9)2020 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32942679
6.
Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene.
Stem Cell Res
; 40: 101570, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31518904
7.
Administration of CORM-2 inhibits diabetic neuropathy but does not reduce dyslipidemia in diabetic mice.
PLoS One
; 13(10): e0204841, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30286142
8.
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Sci Rep
; 7: 42078, 2017 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28181551
9.
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
Invest Ophthalmol Vis Sci
; 53(1): 532-7, 2012 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22199244