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1.
Anti-retinal IgG antibodies in patients with early and advanced type 2 macular telangiectasia.
Exp Eye Res
; 218: 109024, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35271830
2.
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Exp Eye Res
; 225: 109276, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36209838
3.
Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium.
J Cell Mol Med
; 25(21): 10020-10027, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34617687
4.
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Doc Ophthalmol
; 138(1): 55-70, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30446867
5.
Acute progressive paravascular placoid neuroretinopathy with negative-type electroretinography in paraneoplastic retinopathy.
Doc Ophthalmol
; 134(3): 227-235, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28382556
6.
Human limbal neurospheres prevent photoreceptor cell death in a rat model of retinal degeneration.
Clin Exp Ophthalmol
; 45(6): 613-624, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28256796
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38852423
8.
Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts.
CRISPR J
; 7(2): 100-110, 2024 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38579141
9.
Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy.
Cells
; 12(10)2023 05 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37408192
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33429167
11.
Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.
Mol Genet Genomic Med
; 9(3): e1601, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33497524
12.
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Stem Cell Res
; 54: 102439, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34214897
13.
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.
Stem Cell Res
; 54: 102448, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34198153
14.
Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
Stem Cell Res
; 54: 102403, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34034222
15.
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Ophthalmic Genet
; 42(3): 266-275, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33624564
16.
Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
Genes (Basel)
; 12(10)2021 09 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34680937
17.
Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4.
Stem Cell Res
; 48: 101947, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32810830
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33360097
19.
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Mol Genet Genomic Med
; 8(7): e1259, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32627976
20.
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations.
Stem Cell Res
; 40: 101549, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31494449