(Q35299420)

7 August 2017

title

Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness (English)

1 reference

7 August 2017

1 reference

1 reference

2

F Mansergh

1 reference

7 August 2017

P Kenna

1

1 reference

7 August 2017

S Millington-Ward

3

1 reference

7 August 2017

A Erven

4

1 reference

7 August 2017

R Kumar-Singh

5

1 reference

7 August 2017

R Brennan

6

1 reference

7 August 2017

G J Farrar

7

1 reference

7 August 2017

P Humphries

8

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1997

1 reference

British Journal of Ophthalmology

7 August 2017

published in

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7 August 2017

volume

81

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7 August 2017

issue

3

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7 August 2017

page(s)

207-213

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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Defective myosin VIIA gene responsible for Usher syndrome type 1B

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

The 1993-94 Généthon human genetic linkage map

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Observations on the structure of two human 7SK pseudogenes and on homologous transcripts in vertebrate species

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Localization of Usher syndrome type II to chromosome 1q.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Localization of two genes for Usher syndrome type I to chromosome 11.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Dark adaptation testing in heterozygotes of Usher's syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

Linkage analysis of the whirler deafness gene on mouse chromosome 4.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722127

The effects of dystrophin gene mutations on the ERG in mice and humans

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9135384

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9135384

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Standard for clinical electroretinography. International Standardization Committee

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9135384

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.81.3.207

1 reference

7 August 2017

1 reference

7 August 2017

1 reference