(Q73225018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

P S Lagali

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

I M MacDonald

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

I B Griesinger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M L Chambers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R Ayyagari

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P W Wong

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

publication date

1 October 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

Canadian Journal of Ophthalmology

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

315-324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

Clinical and genetic heterogeneity in retinitis pigmentosa

2 November 2019

cites work

1 reference

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Über familiäre, progressive Degeneration in der Maculagegend des Auges

7 January 2021

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Fundus Flavimaculatus and Stargardt's Disease

7 January 2021

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Stargardt's Disease and Fundus Flavimaculatus

7 January 2021

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Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study

7 January 2021

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Pathophysiology of age-related macular degeneration

7 January 2021

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Dominantly inherited macular dystrophy with flecks (Stargardt)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.

7 January 2021

1 reference

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Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

North Carolina macular dystrophy is assigned to chromosome 6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

A novel locus for Leber congenital amaurosis maps to chromosome 6q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

ABCR unites what ophthalmologists divide(s)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Standard for clinical electroretinography. International Standardization Committee

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2800%2980059-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0008-4182(00)80059-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11091913%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference