|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
|
28819299 |
2017 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
|
26147992 |
2015 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
|
25133751 |
2014 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
|
23449718 |
2013 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
CRB1 mutations in inherited retinal dystrophies.
|
22065545 |
2012 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
|
21602930 |
2011 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
|
20956273 |
2011 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
|
20956273 |
2011 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
|
20079931 |
2010 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.
|
20108431 |
2010 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
|
19140180 |
2009 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of Leber congenital amaurosis in Koreans.
|
18682808 |
2008 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
|
18055821 |
2007 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: CRB1.
|
17438615 |
2007 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
|
17724218 |
2007 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
|
17128490 |
2006 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
|
16543197 |
2006 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
|
16936081 |
2006 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
|
16205573 |
2005 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
|
15691574 |
2005 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
CausalMutation
|
CLINVAR |
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
|
15024725 |
2004 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRB1 mutation spectrum in inherited retinal dystrophies.
|
15459956 |
2004 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
|
15024725 |
2004 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation screening of Pakistani families with congenital eye disorders.
|
12573663 |
2003 |
|
LEBER CONGENITAL AMAUROSIS 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
|
12843338 |
2003 |