Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration (Q72998764)

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scientific article published on 01 August 2000

Language	Label	Description	Also known as
English	Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration	scientific article published on 01 August 2000

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

macular degeneration

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

S T Stefko

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

K Zhang

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

M B Gorin

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

E I Traboulsi

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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publication date

1 August 2000

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Europe PubMed Central

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31 October 2019

American Journal of Ophthalmology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

130

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

203-208

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

An updated standard for clinical electroretinography.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900562-6

7 January 2021

Identifiers

10.1016/S0002-9394(00)00562-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11004295%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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