Condition: LEBER CONGENITAL AMAUROSIS 8


rs114342808 in CRB1 gene and LEBER CONGENITAL AMAUROSIS 8 PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

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 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PMID 20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

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 22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

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 12843338 2003 Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

PMID 15459956 2004 CRB1 mutation spectrum in inherited retinal dystrophies.

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 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 16205573 2005 Evaluation of genotype-phenotype associations in leber congenital amaurosis.

PMID 24715753 2014 Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.

PMID 15691574 2005 Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

PMID 16936081 2006 CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

PMID 18055821 2007 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

PMID 10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

PMID 20108431 2010 Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

PMID 12573663 2003 Mutation screening of Pakistani families with congenital eye disorders.

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 17128490 2006 Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.

PMID 12700176 2003 Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

PMID 11231775 2001 Mutations in the CRB1 gene cause Leber congenital amaurosis.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 17438615 2007 Gene symbol: CRB1.

PMID 12567265 2002 A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

PMID 25133751 2014 Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

PMID 26147992 2015 Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

PMID 22065545 2012 CRB1 mutations in inherited retinal dystrophies.

PMID 16543197 2006 A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

PMID 18055816 2007 Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

PMID 24512366 2015 Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

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 19401883 2009 Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

PMID 20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.