(Q73385378)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10647719%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10647719%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

K Gregory-Evans

1

1 reference

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3 November 2019

R E Kelsell

2

1 reference

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3 November 2019

C Y Gregory-Evans

3

1 reference

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3 November 2019

S M Downes

4

1 reference

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3 November 2019

F W Fitzke

5

1 reference

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3 November 2019

G E Holder

6

1 reference

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3 November 2019

M Simunovic

7

1 reference

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3 November 2019

J D Mollon

8

1 reference

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3 November 2019

R Taylor

9

1 reference

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3 November 2019

D M Hunt

10

1 reference

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3 November 2019

A C Bird

11

1 reference

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3 November 2019

A T Moore

12

1 reference

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3 November 2019

publication date

1 January 2000

1 reference

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3 November 2019

1 reference

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3 November 2019

volume

107

1 reference

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3 November 2019

issue

1

1 reference

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3 November 2019

page(s)

55-61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10647719%20AND%20SRC:MED&resulttype=core&format=json

Progressive cone-rod degeneration

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

1 reference

7 January 2021

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

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7 January 2021

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

1 reference

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7 January 2021

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Homozygosity mapping at Alström syndrome to chromosome 2p

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Alström syndrome. Report of 22 cases and literature review.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype

1 reference

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7 January 2021

Ophthalmic genetics: a genealogical guide to sources in England and Wales

1 reference

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7 January 2021

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Standard for clinical electroretinography (1994 update)

1 reference

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7 January 2021

Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

An automated statis perimeter/adaptometer using light emitting diodes

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Clinical subtypes of cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Autosomal dominant cone-rod dystrophy with negative electroretinogram

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Models of the normal and abnormal rod system

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Structural and functional characterization of retinal calcium-dependent guanylate cyclase activator protein (CD-GCAP): identity with S100beta protein

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

Abnormal cone synapses in human cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2899%2900038-X

7 January 2021

10.1016/S0161-6420(99)00038-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10647719%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference