|
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 |
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 |
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 |
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 |
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 |
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 |
BEFREE |
A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
|
10958761 |
2000 |
|
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
To assess the involvement of ABCR in these retinal dystrophies, the gene was screened in a panel of 70 patients of British origin.
|
10634594 |
2000 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
|
10413692 |
1999 |