Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions (Q34138940)

31 July 2017

title

Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions (English)

1 reference

31 July 2017

David R Williams

4

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Maureen Neitz

5

object named as

Maureen Neitz

1 reference

31 July 2017

2

Jay Neitz

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31 July 2017

author name string

Melissa Wagner-Schuman

1

1 reference

31 July 2017

Jungtae Rha

3

1 reference

31 July 2017

Joseph Carroll

6

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31 July 2017

publication date

17 September 2010

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31 July 2017

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31 July 2017

volume

50

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31 July 2017

issue

23

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31 July 2017

page(s)

2396-2402

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Intersubject Variability of Foveal Cone Photoreceptor Density in Relation to Eye Length

31 July 2017

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1 reference

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Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic

5 July 2018

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X-linked cone dystrophy caused by mutation of the red and green cone opsins

5 July 2018

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Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array

5 July 2018

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Variable optical activation of human cone photoreceptors visualized using a short coherence light source

5 July 2018

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Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Individual variations in human cone photoreceptor packing density: variations with refractive error

5 July 2018

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High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

5 July 2018

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Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency

5 July 2018

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Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

5 July 2018

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Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Characterization of a novel form of X-linked incomplete achromatopsia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness

5 July 2018

1 reference

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New Farnsworth-Munsell 100 hue test norms of normal observers for each year of age 5-22 and for age decades 30-70

5 July 2018

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Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.

5 July 2018

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Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes

5 July 2018

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Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype

5 July 2018

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A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

5 July 2018

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Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability

5 July 2018

1 reference

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Genetic heterogeneity among blue-cone monochromats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

5 July 2018

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Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

The density of cones in the fovea centralis of the human dichromat.

5 July 2018

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Human photoreceptor topography

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Defective colour vision associated with a missense mutation in the human green visual pigment gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

The desaturated panel D-15

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Adaptive optics optical coherence tomography at 120,000 depth scans/s for non-invasive cellular phenotyping of the living human retina.

5 July 2018

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Improvement in retinal image quality with dynamic correction of the eye's aberrations.

28 October 2018

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Automated identification of cone photoreceptors in adaptive optics retinal images

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Organization of the human trichromatic cone mosaic.

28 October 2018

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The locus of fixation and the foveal cone mosaic

28 October 2018

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Progressive cone dystrophy with deutan genotype and phenotype

28 October 2018

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X-linked cone dysfunction syndrome with myopia and protanopia

28 October 2018

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Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency

28 October 2018

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Topographical cone photopigment gene expression in deutan-type red-green color vision defects

28 October 2018

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Estimates of L:M cone ratio from ERG flicker photometry and genetics

28 October 2018

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The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes

28 October 2018

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Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Foveal cone mosaic and visual pigment density in dichromats

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Selective cone dystrophy with protan genotype.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975855

Visual pigment gene structure and the severity of color vision defects

28 October 2018

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2010.09.015

An electroretinographic and molecular genetic study of X-linked cone degeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2010.09.015

Red/green sensitivity in normal vision

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2010.09.015

Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2010.09.015

Foveal cone detection statistics in color-normals and dichromats

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.VISRES.2010.09.015

Cone signal contributions to electroretinograms [correction of electrograms] in dichromats and trichromats

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20854834

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.VISRES.2010.09.015

1 reference

release_unarhl56arfyvjmlymqnt26wyy

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/unarhl56arfyvjmlymqnt26wyy

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

2975855

1 reference

31 July 2017

1 reference