Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Clinical and molecular characteristics of childhood-onset Stargardt disease.
|
25312043 |
2015 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
|
22229821 |
2012 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
23982839 |
2013 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Most patients harbored at least one mutation classified as "severe," the most common of which was the p.N965S variant that had been found previously at a high frequency among patients with ABCA4-associated retinal dystrophies in Denmark.
|
24713488 |
2014 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
|
25066811 |
2014 |
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies.
|
19243736 |
2009 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability.
|
30670881 |
2019 |
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity.
|
11379881 |
2001 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Analysis of the ABCA4 gene by next-generation sequencing.
|
21911583 |
2011 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
|
23918662 |
2013 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations.
|
15614537 |
2005 |
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
|
26593885 |
2016 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Subsequent studies have shown that mutations in ABCA4 can also cause a variety of other retinal dystrophies including cone rod dystrophy and retinitis pigmentosa.
|
18285826 |
2008 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
|
25363634 |
2015 |
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
|
11379881 |
2001 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |