RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
|
28819299 |
2017 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
|
26147992 |
2015 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
|
25133751 |
2014 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
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 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
CRB1 mutations in inherited retinal dystrophies.
|
22065545 |
2012 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRB1 mutations in inherited retinal dystrophies.
|
22065545 |
2012 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
|
20956273 |
2011 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
|
21987686 |
2011 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
|
22128245 |
2011 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
|
20956273 |
2011 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
|
20591486 |
2010 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
|
20079931 |
2010 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
|
19140180 |
2009 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
|
19956407 |
2009 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
|
19140180 |
2009 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
|
16543197 |
2006 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
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 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRB1 mutation spectrum in inherited retinal dystrophies.
|
15459956 |
2004 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
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 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation screening of Pakistani families with congenital eye disorders.
|
12573663 |
2003 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
|
11389483 |
2001 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
|
11559858 |
2001 |
RETINITIS PIGMENTOSA 12 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
|
10508521 |
1999 |