A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity (Q33679975)

28 July 2017

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity (English)

1 reference

28 July 2017

1 reference

C F Inglehearn

1

1 reference

28 July 2017

E E Tarttelin

2

1 reference

28 July 2017

C Plant

3

1 reference

28 July 2017

R E Peacock

4

1 reference

28 July 2017

M al-Maghtheh

5

1 reference

28 July 2017

E Vithana

6

1 reference

28 July 2017

A C Bird

7

1 reference

28 July 2017

S S Bhattacharya

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

35

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28 July 2017

1

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28 July 2017

1-5

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A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Population genetic studies of retinitis pigmentosa.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Clinical investigation of retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051177

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

30 October 2018

1 reference

12 December 2020

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

1 reference

12 December 2020

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q

1 reference

12 December 2020

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.1.1

1 reference

28 July 2017

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28 July 2017

1 reference