(Q34018557)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

main subject

photoreceptor protein

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Elfride De Baere

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Andrew J Lotery

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Caroline C Klaver

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

8

Robert K Koenekoop

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

2

Anneke I den Hollander

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

4

Sander B Nabuurs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Alberta A H J Thiadens

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Renate C Zekveld-Vroon

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rob W J Collin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Mary J van Schooneveld

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Tim M Strom

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Janneke J C van Lith-Verhoeven

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Norka van Moll-Ramirez

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Bart P Leroy

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

L Ingeborgh van den Born

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Carel B Hoyng

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Frans P M Cremers

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

16 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

85

1 reference

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2 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

240-247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

The Structure of the GAF A Domain from Phosphodiesterase 6C Reveals Determinants of cGMP Binding, a Conserved Binding Surface, and a Large cGMP-dependent Conformational Change

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

CNGB3 mutations account for 50% of all cases with autosomal recessive 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=2725240

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Progressive cone dystrophy associated with mutation in CNGB3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

The cone dysfunction syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with 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=2725240

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

CNGA3 mutations in hereditary cone photoreceptor disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Activation, deactivation, and adaptation in vertebrate photoreceptor cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Improved splice site detection in Genie

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Genetic etiology and clinical consequences of complete and 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=2725240

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725240

10.1016/J.AJHG.2009.06.016

29 October 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19615668%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

19615668

1 reference