(Q37343523)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

Syed Tahir Abbas Shah

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

2

Rob W J Collin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

9

Frans P M Cremers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Maleeha Azam

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Muhammad Imran Khan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Nadeem Qureshi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Muhammad Ajmal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Anneke I den Hollander

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Raheel Qamar

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

5 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

1788-1793

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities

7 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=2742643

Gene expression profiles of light-induced apoptosis in arrestin/rhodopsin kinase-deficient mouse retinas

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Normal S cone electroretinogram b-wave in Oguchi's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Oguchi disease: suggestion of linkage to markers on chromosome 2q

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2742643

X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon

20 October 2018

1 reference

12 December 2020

X-linked cone dystrophy. An overlooked diagnosis?

1 reference

12 December 2020

The golden tapetal sheen reflex in retinal disease

1 reference

12 December 2020

Standard for clinical electroretinography. International Standardization Committee

1 reference

12 December 2020

Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon

1 reference

12 December 2020

Rhodopsin phosphorylation and dephosphorylation in vivo

1 reference

12 December 2020

Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa

1 reference

12 December 2020

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19753316%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

19753316

1 reference