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

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Investigative Ophthalmology and Visual Science

• Publication date

  2006-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1167/IOVS.05-1637PMID 16936081
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

  2006cited by this paper
• Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

  2005cited by this paper
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• Erratum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy (Nature Genetics (2004) 36 (850-854))

  2004cited by this paper
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  2004cited by this paper
• An overview of Leber congenital amaurosis: a model to understand human retinal development.

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• From the Cover: Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase

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• Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

  2004cited by this paper
• Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure

  2004cited by this paper
• Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

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  2004cited by this paper
• Erratum: The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 (Human Molecular Genetics (2002) vol. 11 (2723-2733))

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  2003cited by this paper
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  2003cited by this paper
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  2003cited by this paper
• Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

  2003cited by this paper
• The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

  2003cited by this paper
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  2003cited by this paper
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  2000cited by this paper
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  1999cited by this paper
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  2022cites this paper
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  2020cites this paper
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  2020cites this paper
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  2018cites this paper
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  2018cites this paper
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  2017cites this paper
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  2016influential citation
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  2015cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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  2014cites this paper
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  2014cites this paper
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