Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (Q54598374)

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29 January 2020

title

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16754206%20AND%20SRC:MED&resulttype=core&format=json

vitelliform macular dystrophy

29 January 2020

main subject

1 reference

1 reference

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1

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29 January 2020

Joakim Klar

2

1 reference

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29 January 2020

author name string

Sten Andréasson

3

1 reference

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29 January 2020

Vesna Ponjavic

4

1 reference

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29 January 2020

Niklas Dahl

5

1 reference

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29 January 2020

publication date

1 June 2006

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29 January 2020

1 reference

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29 January 2020

volume

27

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29 January 2020

issue

2

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29 January 2020

page(s)

51-56

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Identification of the gene responsible for Best macular dystrophy

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

The mutation spectrum of the bestrophin protein--functional implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Optical coherence tomography 3: Automatic delineation of the outer neural retinal boundary and its influence on retinal thickness measurements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Current management of severe homozygous hypercholesterolaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Lack of association of mutations of the bestrophin gene with age-related macular degeneration in non-familial Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Best's vitelliform macular dystrophy with pseudohypopyon: an optical coherence tomography study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990

Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810600677990