(Q22253395)

vitelliform macular dystrophy

GOA release 2020-03-11

1 reference

K White

1

K

White

1 reference

28 March 2023

A Marquardt

series ordinal

2

author given names

A

author last names

Marquardt

1 reference

28 March 2023

B H Weber

series ordinal

3

author given names

B H

author last names

Weber

1 reference

28 March 2023

language of work or name

English

0 references

publication date

2000

0 references

published in

Human Mutation

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volume

15

0 references

page(s)

301-8

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issue

4

0 references

cites work

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

The mutation spectrum of the bestrophin protein--functional implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Effects of increasing numbers of phagocytic inclusions on human retinal pigment epithelial cells in culture: a model for aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Adult vitelliform macular degeneration: diagnosis and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Influence of early photoreceptor degeneration on lipofuscin in the retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Identification of the gene responsible for Best macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Molecular evidence for non-penetrance in Best's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

HEREDITARY VITELLINE MACULAR DEGENERATION. A CLINICAL AND FUNCTIONAL EVALUATION OF A NEW PEDIGREE WITH VARIABLE EXPRESSIVITY AND DOMINANT INHERITANCE

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Long-term Evaluation of Patients with Best's Vitelliform Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

[EOG in adult vitelliform macular degeneration, butterfly-shaped pattern dystrophy and Best disease]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N

Histopathology of Best's macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C301%3A%3AAID-HUMU1%3E3.0.CO%3B2-N