(Q24533363)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

title

CNGA3 mutations in hereditary cone photoreceptor disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

main subject

photoreceptor protein

0 references

author

Roberto Giorda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Samuel G. Jacobson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Eberhart Zrenner

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Susanne Kohl

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

author name string

Wissinger B

1

1 reference

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30 August 2019

Gamer D

2

1 reference

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30 August 2019

Jägle H

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Marx T

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Mayer S

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Tippmann S

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Broghammer M

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Jurklies B

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Rosenberg T

10

1 reference

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30 August 2019

Sener EC

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Tatlipinar S

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Hoyng CB

14

1 reference

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30 August 2019

Castellan C

15

1 reference

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30 August 2019

Bitoun P

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Andreasson S

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Rudolph G

18

1 reference

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30 August 2019

Kellner U

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Lorenz B

20

1 reference

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30 August 2019

Wolff G

21

1 reference

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30 August 2019

Verellen-Dumoulin C

22

1 reference

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30 August 2019

Schwartz M

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Cremers FP

24

1 reference

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30 August 2019

Apfelstedt-Sylla E

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Salati R

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

Sharpe LT

28

1 reference

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30 August 2019

language of work or name

English

0 references

publication date

30 August 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

30 August 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

volume

69

1 reference

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30 August 2019

page(s)

722-737

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

Genetic basis of total colourblindness among the Pingelapese islanders

30 August 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Homozygosity mapping of the Achromatopsia locus in the Pingelapese

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Genetic heterogeneity among blue-cone monochromats

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Another member of the cyclic nucleotide-gated channel family, expressed in testis, kidney, and heart

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Molecular genetics of inherited variation in human color vision

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

The arrangement of the three cone classes in the living human eye.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Structure and function of cyclic nucleotide-gated channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Electroretinograms in patients with achromatopsia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Typical and atypical monochromacy studied by specific quantitative perimetry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnos

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Typical total monochromacy. A histological and psychophysical study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

[Blue cone monochromasia: diagnosis, genetic counseling and optical aids]

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

[Signal transduction in photoreceptor cells]

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226059

Variations in cone populations for red-green color vision examined by analysis of mRNA

29 November 2018

1 reference

12 December 2020

A locus for autosomal recessive achromatopsia on human chromosome 8q

1 reference

12 December 2020

Congenital total color blindness: a clincopathological report

1 reference

12 December 2020

CONE DYSFUNCTION SYNDROMES

1 reference

12 December 2020

Receptors in the monochromat eye

1 reference

12 December 2020

Identifiers

DOI

10.1086/323613

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11536077%20AND%20SRC:MED&resulttype=core&format=json

30 August 2019

1 reference