Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Ophthalmology (Rochester, Minn.)

• Publication date

  2009-04-28

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.ophtha.2009.03.053PMID 19592100
• 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.

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  2008cited by this paper
• CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

  2007cited by this paper
• Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

  2006cited by this paper
• Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3.

  2005cited by this paper
• Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.

  2005cited by this paper
• Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.

  2005cited by this paper
• Classification of complete and incomplete autosomal recessive achromatopsia

  2005cited by this paper
• Cone cGMP‐gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

  2005cited by this paper
• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

  2005cited by this paper
• The cone dysfunction syndromes

  2004cited by this paper
• Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

  2004cited by this paper
• Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

  2004cited by this paper
• Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.

  2004cited by this paper
• Progressive cone dystrophy associated with mutation in CNGB3.

  2004cited by this paper
• Obligatory heterotetramerization of three previously uncharacterized Kv channel α-subunits identified in the human genome

  2002cited by this paper
• Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

  2002cited by this paper
• Cyclic nucleotide-gated ion channels.

  2002cited by this paper
• CNGA3 mutations in hereditary cone photoreceptor disorders.

  2001cited by this paper
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  2000cited by this paper
• Genetic basis of total colourblindness among the Pingelapese islanders

  2000cited by this paper
• Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

  1999cited by this paper
• The cone dystrophies

  1998cited by this paper
• Cloning, Chromosomal Localization and Functional Expression of the Gene Encoding the α‐Subunit of the cG‐MP‐Gated Channel in Human Cone Photoreceptors

  1997cited by this paper
• Genetic heterogeneity among blue-cone monochromats.

  1993cited by this paper
• Molecular genetics of human blue cone monochromacy.

  1989cited by this paper
• An international standard for electroretinography

  1989cited by this paper

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  2025cites this paper
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  2022cites this paper
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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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• [Gene Replacement Therapy for Inherited Retinal Dystrophies].

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  2014cites this paper
• [A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia].

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  2014cites this paper
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