Detalhe da pesquisa
1.
Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant.
Stem Cell Res
; 78: 103461, 2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38852423
2.
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Asia Pac J Ophthalmol (Phila)
; 11(4): 369-379, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041150
3.
Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides.
Sci Rep
; 11(1): 15137, 2021 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302060
4.
Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.
Stem Cell Res
; 51: 102154, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33429167
5.
Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
Genes (Basel)
; 12(10)2021 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680937
6.
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene.
Stem Cell Res
; 50: 102129, 2020 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33360097
7.
Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries.
Front Genet
; 10: 1249, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31956327
8.
Catalase restores the altered mRNA expression of collagen and matrix metalloproteinases by dermal fibroblasts exposed to reactive oxygen species.
Eur J Dermatol
; 16(4): 375-9, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16935793