(Q34017417)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Blue cone monochromacy: causative mutations and associated phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

main subject

blue cone monochromacy

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2

Michel Michaelides

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Jessica C Gardner

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Graham E Holder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Naheed Kanuga

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Tom R Webb

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

John D Mollon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Anthony T Moore

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

1 May 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

number of pages

9

1 reference

based on heuristic

inferred from page(s)

published in

Molecular Vision

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

876-884

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

The cone dysfunction syndromes

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Molecular genetics of color vision and color vision defects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

A new mechanism in blue cone monochromatism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Genetic heterogeneity among blue-cone monochromats

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Molecular determinants of human red/green color discrimination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Molecular genetics of inherited variation in human color vision

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Blue cone monochromatism.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Molecular genetics of human blue cone monochromacy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Electroretinographic responses of the short-wavelength-sensitive cones

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Selective expression of human X chromosome-linked green opsin genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Standard for clinical electroretinography (2004 update).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Clinical vision characteristics of the congenital achromatopsias. II. Color vision

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Color plates to help identify patients with blue cone monochromatism.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2676201

Luminance noise and the rapid determination of discrimination ellipses in colour deficiency

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19421413

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Visual pigment gene structure and expression in human retinae

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19421413

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19421413%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

19421413

1 reference