(Q37302658)

English

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study

scientific article published on August 1993

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

author name string

A T Moore

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

F Fitzke

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

M Jay

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

G B Arden

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

C F Inglehearn

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

T J Keen

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

S S Bhattacharya

7

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

A C Bird

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

1 August 1993

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

British Journal of Ophthalmology

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

77

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

473-479

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

A modified ERG technique and the results obtained in X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

A clinical, psychophysical, and electroretinographic survey 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=504578

6 September 2017

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Genomic imprinting in mammalian development: a parental tug-of-war

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation 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=504578

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=504578

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=504578

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=504578

6 September 2017

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Mutations in the human retinal degeneration slow gene 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=504578

6 September 2017

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Anticipation in myotonic dystrophy: new light on an old problem

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

6 September 2017

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

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=504578

6 September 2017

Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

14 September 2017

An automated statis perimeter/adaptometer using light emitting diodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

26 June 2018

Phenotypic heterogeneity and the single gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

26 June 2018

Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

26 June 2018

Two types of visual dysfunction 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=504578

2 September 2018

Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

20 October 2018

Dominant Retinitis Pigmentosa With Reduced Penetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504578

20 October 2018

Two forms of autosomal dominant primary retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Photopic flicker sensitivity losses in simplex and multiplex retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025041

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/8025041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/8025041

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/8025041

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/BJO.77.8.473

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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