Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt disease (STGD1) and ar cone-rod dystrophy.
|
28044389 |
2017 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
|
26780318 |
2016 |
Rod-Cone Dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Comprehensive clinical studies were performed to identify patients with Stargardt disease (STGD, n = 76) and cone-rod dystrophy (CRD, n = 16).
|
26593885 |
2016 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy.
|
25363634 |
2015 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Overall, we detected 70.5% and 36.6% of all expected ABCA4 mutations in arSTGD and arCRD patient cohorts, respectively.
|
23755871 |
2013 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
|
19352439 |
2009 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Based on these data we estimate a prevalence of 31% for ABCA4 mutations in arCD and arCRD, supporting the concept that the ABCA4 gene is a major locus for various types of degenerative retinal diseases with abnormalities in cone or both cone and rod function.
|
18285826 |
2008 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with Stargardt disease or cone-rod dystrophy and known or suspected disease-causing mutations in the ABCA4 gene were included.All patients had foveal fixation.
|
17325179 |
2007 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We found a new pathologic ATP-binding cassette transporter (ABCA4) splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T (p.P1776L) missense mutation in the arCRD patients.
|
17893657 |
2007 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The new 6730-16del44 deletion is the first de novo mutation associated with cone-rod dystrophy and may contribute to a better understanding of the role of ABCA4 mutations in macular dystrophies.
|
16681420 |
2006 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
|
16896346 |
2006 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with Stargardt disease or cone-rod dystrophy and disease-causing variants in the ABCA4 gene were included.
|
16303974 |
2005 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
|
15494742 |
2004 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
|
15017103 |
2004 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm that a substantial percentage of patients with autosomal recessive cone-rod dystrophy are likely to harbor a mutation in the ABCA4 gene as the cause of their disease.
|
12796258 |
2003 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCR (ABCA4) have been reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt disease (STGD), cone-rod dystrophy and retinitis pigmentosa.
|
11726554 |
2001 |
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
|
10958761 |
2000 |