Detalhe da pesquisa
1.
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Am J Hum Genet
; 102(4): 517-527, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526278
2.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643219
3.
Highly Variable Disease Courses in Siblings with Stargardt Disease.
Ophthalmology
; 126(12): 1712-1721, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31522899
4.
The absence of fundus abnormalities in Stargardt disease.
Graefes Arch Clin Exp Ophthalmol
; 257(6): 1147-1157, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903310
5.
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
Int J Mol Sci
; 19(3)2018 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518907
6.
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.
Hum Mutat
; 38(4): 400-408, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28044389
7.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Hum Mol Genet
; 24(13): 3742-51, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25859010
8.
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10TâC Mutation in Stargardt Disease.
Ophthalmology
; 123(6): 1375-85, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26976702
9.
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Hum Mutat
; 36(1): 43-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363634
10.
Early-onset stargardt disease: phenotypic and genotypic characteristics.
Ophthalmology
; 122(2): 335-44, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25444351
11.
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
Br J Ophthalmol
; 107(2): 248-253, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348923
12.
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A.
Stem Cell Res
; 73: 103252, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979432
13.
Correlation of Morphology and Function of Flecks Using Short-Wave Fundus Autofluorescence and Microperimetry in Patients With Stargardt Disease.
Transl Vis Sci Technol
; 10(3): 18, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003952
14.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Mol Ther Nucleic Acids
; 21: 412-427, 2020 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653833
15.
Foveal Sparing in Central Retinal Dystrophies.
Invest Ophthalmol Vis Sci
; 60(10): 3456-3467, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31398255
16.
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Invest Ophthalmol Vis Sci
; 60(13): 4249-4256, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31618761
17.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Invest Ophthalmol Vis Sci
; 59(8): 3220-3231, 2018 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971439
18.
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease.
Invest Ophthalmol Vis Sci
; 58(2): 1001-1007, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28288486
19.
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
PLoS One
; 12(3): e0174020, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28355279
20.
Asymmetric Inter-Eye Progression in Stargardt Disease.
Invest Ophthalmol Vis Sci
; 57(15): 6824-6830, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002570