|
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 |
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 |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
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 |
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 |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
|
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 |
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
|
25363634 |
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 |
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 |
GeneticVariation
|
group |
CLINVAR |
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
23982839 |
2013 |
|
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 |
CLINVAR |
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
|
22229821 |
2012 |
|
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Analysis of the ABCA4 gene by next-generation sequencing.
|
21911583 |
2011 |
|
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 |
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 |
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.
|
16546111 |
2006 |
|
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 |
GeneticVariation
|
group |
CLINVAR |
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
|
15614537 |
2005 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Patients with RP caused by ABCA4 mutations are characterized by an early onset and rapid progression of their retinal dystrophy, with extensive chorioretinal atrophy resulting in a very low visual acuity.
|
15019334 |
2004 |
|
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 |
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 |
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 |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |