(Q35302600)

7 August 2017

Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q (English)

1 reference

North Carolina macular dystrophy

7 August 2017

1 reference

1 reference

M B Reichel

1

1 reference

7 August 2017

R E Kelsell

2

1 reference

7 August 2017

J Fan

3

1 reference

7 August 2017

C Y Gregory

4

1 reference

7 August 2017

K Evans

5

1 reference

7 August 2017

A T Moore

6

1 reference

7 August 2017

D M Hunt

7

1 reference

7 August 2017

F W Fitzke

8

1 reference

7 August 2017

A C Bird

9

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 October 1998

1 reference

7 August 2017

7

1 reference

British Journal of Ophthalmology

inferred from page(s)

published in

1 reference

7 August 2017

82

1 reference

7 August 2017

1162-1168

1 reference

7 August 2017

10

1 reference

New clinical test of retinal function based upon the standing potential of the eye.

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

In vivo fundus autofluorescence in macular dystrophies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

The retina: genetic studies of several retinopathies located on the short arm of chromosome 17.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Strategies for multilocus linkage analysis in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

A new dominant progressive foveal dystrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

The pattern electroretinogram (PERG) in ocular hypertension and glaucoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

North Carolina's dominant progressive foveal dystrophy: how progressive is it?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Functional loss in age-related Bruch's membrane change with choroidal perfusion defect

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722392

Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy

27 July 2018

1 reference

12 December 2020

North Carolina macular dystrophy is assigned to chromosome 6

1 reference

12 December 2020

Histopathology of Incipient Fundus Flavimaculatus

1 reference

12 December 2020

North Carolina macular dystrophy, revisited

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary Macular Degeneration and Amino-Aciduria

1 reference

12 December 2020

Foveal and extra-foveal acuity with and without stabilized retinal images

1 reference

12 December 2020

Histopathology of Best's macular dystrophy

1 reference

12 December 2020

Distribution of glutamate receptor subtypes in the vertebrate retina

1 reference

12 December 2020

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene

1 reference

12 December 2020

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.82.10.1162

1 reference

release_kzuzh2jpbbgvzlpzuxi55lashi

7 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kzuzh2jpbbgvzlpzuxi55lashi

24 November 2022

mapped directly with Wikidata item

PMCID

1722392

1 reference

7 August 2017

1 reference