Detalhe da pesquisa
1.
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PLoS Genet
; 18(3): e1010129, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353811
2.
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Hum Mol Genet
; 30(14): 1293-1304, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909047
3.
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
4.
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.
Retina
; 39(12): 2311-2325, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30204727
5.
The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.
Ophthalmology
; 125(1): 89-99, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947085
6.
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
J Med Genet
; 54(6): 404-412, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446513
7.
HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.
Retina
; 38(11): 2214-2219, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29028687
8.
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
9.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Hum Mol Genet
; 23(25): 6797-806, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082829
10.
Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
Hum Genet
; 135(1): 9-19, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26527198
11.
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.
Graefes Arch Clin Exp Ophthalmol
; 254(5): 865-72, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26311262
12.
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
Ophthalmology
; 122(2): 345-55, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25283059
13.
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Ophthalmology
; 122(2): 326-34, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25312043
14.
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
Nat Genet
; 38(4): 458-62, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16518403
15.
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Hum Mutat
; 35(10): 1187-94, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066811
16.
The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.
Retina
; 34(7): 1391-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24317291
17.
Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.
Retina
; 34(9): 1888-95, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24695063
18.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540785
19.
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
20.
Insights Into PROM1-Macular Disease Using Multimodal Imaging.
Invest Ophthalmol Vis Sci
; 64(4): 27, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37093133