(Q37302751)

English

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

scientific article published on August 1993

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scholarly article

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Europe PubMed Central

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23 October 2019

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8025047%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

Heinrich Gerding

5

1 reference

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23 October 2019

Eberhart Zrenner

7

1 reference

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23 October 2019

author name string

E Apfelstedt-Sylla

1

1 reference

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23 October 2019

M Kunisch

2

1 reference

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23 October 2019

M Horn

3

1 reference

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23 October 2019

K Rüther

4

1 reference

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23 October 2019

A Gal

6

1 reference

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23 October 2019

language of work or name

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publication date

1 August 1993

1 reference

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23 October 2019

British Journal of Ophthalmology

1 reference

Europe PubMed Central

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23 October 2019

77

1 reference

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23 October 2019

8

1 reference

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23 October 2019

495-501

1 reference

Europe PubMed Central

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23 October 2019

Regulation of transmembrane signaling by receptor phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Rhodopsin and phototransduction: a model system for G protein-linked receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

6 September 2017

Rod sensitivity relative to cone sensitivity in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

28 September 2017

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

26 June 2018

Improved electrode for electroretinography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504584

26 June 2018

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant retinitis pigmentosa. A method of classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standard for clinical electroretinography. International Standardization Committee

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substrate recognition determinants for rhodopsin kinase: studies with synthetic peptides, polyanions, and polycations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of rhodopsin kinase activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.77.8.495

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8025047%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8025047%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8025047%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

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