(Q42059602)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies (English)

1 reference

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6 February 2020

2

1 reference

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6 February 2020

Irina Golovleva

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

7

Ola Sandgren

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Linda Köhn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Sara J Bowne

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Lori S Sullivan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Ulrich Kellner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Stephen P Daiger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

publication date

1 September 2010

1 reference

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6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

139-140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)

6 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=4096809

Molecular aspects of retinal degenerative diseases

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Mutations in the RPGR gene cause X-linked cone dystrophy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096809

10.3109/13816810.2010.486776

17 August 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20590364%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

20590364

1 reference