Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants (Q34435751)

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English	Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants	scientific article

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15 February 2020

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants (English)

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15 February 2020

genotype-phenotype correlation

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based on heuristic

inferred from title

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15 February 2020

Michael E. Cheetham

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15 February 2020

Alison Hardcastle

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15 February 2020

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Eamonn R Maher

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15 February 2020

Michel Michaelides

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Michel Michaelides

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15 February 2020

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Jessica C Gardner

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15 February 2020

Gerald Liew

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15 February 2020

Ying-Hua Quan

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15 February 2020

Burcu Ermetal

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15 February 2020

Hisao Ueyama

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15 February 2020

Alice E Davidson

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15 February 2020

Nele Schwarz

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15 February 2020

Naheed Kanuga

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15 February 2020

Ravinder Chana

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15 February 2020

Andrew R Webster

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15 February 2020

Graham E Holder

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15 February 2020

Jan Liebelt

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15 February 2020

Jonathan B Ruddle

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15 February 2020

Anthony T Moore

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15 February 2020

publication date

1 November 2014

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15 February 2020

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15 February 2020

35

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15 February 2020

11

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15 February 2020

1354-1362

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15 February 2020

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

1 reference

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6 July 2018

ISCEV standard for clinical pattern electroretinography (PERG): 2012 update.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

The genetics of normal and defective color vision

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Blue cone monochromacy: causative mutations and associated phenotypes.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

ISCEV standard for clinical pattern electroretinography--2007 update

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Systematic identification and analysis of exonic splicing silencers.

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6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Characterization of a novel form of X-linked incomplete achromatopsia

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Predictive identification of exonic splicing enhancers in human genes

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6 July 2018

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

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6 July 2018

The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments

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6 July 2018

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

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6 July 2018

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

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6 July 2018

Mutually exclusive expression of human red and green visual pigment-reporter transgenes occurs at high frequency in murine cone photoreceptors

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6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

A new mechanism in blue cone monochromatism

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Gene conversion between red and defective green opsin gene in blue cone monochromacy

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6 July 2018

Genetic heterogeneity among blue-cone monochromats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus

1 reference

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6 July 2018

Molecular genetics of inherited variation in human color vision

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6 July 2018

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

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6 July 2018

Molecular genetics of human blue cone monochromacy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

6 July 2018

A locus control region adjacent to the human red and green visual pigment genes

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6 July 2018

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

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6 July 2018

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

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6 July 2018

Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

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27 October 2018

ISCEV Standard for full-field clinical electroretinography (2008 update).

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27 October 2018

X-linked cone dysfunction syndrome with myopia and protanopia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4285181

27 October 2018

X-linked high myopia associated with cone dysfunction.

1 reference

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27 October 2018

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

1 reference

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27 October 2018

S-cone ERGs elicited by a simple technique in normals and in tritanopes.

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27 October 2018

Tandem array of human visual pigment genes at Xq28

1 reference

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12 December 2020

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10.1002/HUMU.22679

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15 February 2020

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15 February 2020

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15 February 2020

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