Condition: RETINITIS PIGMENTOSA 12 (disorder)
rs114342808 in
CRB1 gene and
RETINITIS PIGMENTOSA 12 (disorder)
PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.
PMID 11389483 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
PMID 22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PMID 20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
PMID 15459956 2004 CRB1 mutation spectrum in inherited retinal dystrophies.
PMID 19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
PMID 21987686 2011 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
PMID 22128245 2011 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.
PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
PMID 12843338 2003 Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
PMID 22065545 2012 CRB1 mutations in inherited retinal dystrophies.
PMID 11559858 2001 CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
PMID 12573663 2003 Mutation screening of Pakistani families with congenital eye disorders.
PMID 10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.
PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
PMID 24715753 2014 Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
PMID 23449718 2013 Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
PMID 11231775 2001 Mutations in the CRB1 gene cause Leber congenital amaurosis.
PMID 26147992 2015 Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
PMID 25133751 2014 Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
PMID 16543197 2006 A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
PMID 19401883 2009 Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.
PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
PMID 18055816 2007 Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
PMID 27113771 2016 Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
PMID 24512366 2015 Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.