Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy.
|
31318848 |
2019 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.
|
31618812 |
2019 |
Macular dystrophy
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Macular dystrophy
|
0.190 |
Biomarker
|
disease |
BEFREE |
Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy.
|
30634128 |
2019 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characteristics of childhood-onset Stargardt disease.
|
25312043 |
2015 |
Macular dystrophy
|
0.190 |
Biomarker
|
disease |
BEFREE |
Generalized choriocapillaris dystrophy is a progressive ABCA4-associated phenotype characterized by early-onset macular dystrophy that disperses and expands to widespread end-stage chorioretinal atrophy with profound visual loss.
|
24713488 |
2014 |
Macular dystrophy
|
0.190 |
Biomarker
|
disease |
BEFREE |
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
|
20335603 |
2010 |
Macular dystrophy
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
Gene symbol: ABCA4. Disease: Macular dystrophy.
|
20960624 |
2008 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
|
18024811 |
2007 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
|
15614537 |
2005 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
|
14517951 |
2003 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
Macular dystrophy
|
0.190 |
Biomarker
|
disease |
BEFREE |
The ABCA4 gene has been involved in several forms of inherited macular dystrophy.
|
11385708 |
2001 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Particular interest has focused on the ABCR gene which is responsible for autosomal recessive Stargardt macular dystrophy.
|
10662806 |
2000 |
Macular dystrophy
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
|
10874631 |
1999 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material.
|
9054934 |
1997 |
Macular dystrophy
|
0.190 |
GeneticVariation
|
disease |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |