CRB1 gene

Known as: LCA8, crumbs 1, cell polarity complex component, CRUMBS, DROSOPHILA, HOMOLOG OF, 1 
 
National Institutes of Health

Papers overview

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2014
2014
OBJECTIVE To report a new phenotype caused by mutations in the CRB1 gene in a family with 2 affected siblings. DESIGN Molecular… (More)
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Review
2012
Review
2012
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital… (More)
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2011
2011
PURPOSE To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse. METHODS… (More)
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2011
2011
OBJECTIVES To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the… (More)
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Highly Cited
2003
Highly Cited
2003
Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber… (More)
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Highly Cited
2003
Highly Cited
2003
Mutations in CRB1, the human homolog of Drosophila Crumbs, cause autosomal recessive blinding disorders of the retina. Whereas… (More)
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Highly Cited
2002
Highly Cited
2002
The apical transmembrane protein Crumbs is a central regulator of epithelial apical–basal polarity in Drosophila. Loss-of… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations in the human Crumbs homologue 1 (CRB1) gene cause severe retinal dystrophies. CRB1 is homologous to Drosophila Crumbs… (More)
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2001
2001
PURPOSE To report a new phenotype in retinitis pigmentosa (RP) patients with CRB1 mutations at the RP12 locus. PATIENTS Thirty… (More)
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Highly Cited
1999
Highly Cited
1999
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5… (More)
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