(Q33522630)

27 July 2017

title

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene (English)

1 reference

vitelliform macular dystrophy

27 July 2017

main subject

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1

Giuseppe Querques

1 reference

27 July 2017

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Jennyfer Zerbib

2

1 reference

27 July 2017

Rossana Santacroce

3

1 reference

27 July 2017

Maurizio Margaglione

4

1 reference

27 July 2017

Nathalie Delphin

5

1 reference

27 July 2017

Jean-Michel Rozet

6

1 reference

27 July 2017

Josseline Kaplan

7

1 reference

27 July 2017

Domenico Martinelli

8

1 reference

27 July 2017

Nicola Delle Noci

9

1 reference

27 July 2017

Gisèle Soubrane

10

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27 July 2017

Eric H Souied

11

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27 July 2017

publication date

31 December 2009

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27 July 2017

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27 July 2017

volume

15

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27 July 2017

page(s)

2960-2972

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Biallelic mutation of BEST1 causes a distinct retinopathy in humans

27 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Focus on molecules: bestrophin (best-1).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Structure-function analysis of the bestrophin family of anion channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Human non-synonymous SNPs: server and survey

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

The vitelliform macular dystrophy protein defines a new family of chloride channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Identification of the gene responsible for Best macular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Best's vitelliform dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Clinical and molecular genetic analysis of best vitelliform macular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

High-resolution spectral domain optical coherence tomography findings in multifocal vitelliform macular dystrophy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

High-definition optical coherence tomography features in vitelliform macular dystrophy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Late onset is common in best macular dystrophy associated with VMD2 gene mutations

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Two bestrophins cloned from Xenopus laevis oocytes express Ca(2+)-activated Cl(-) currents

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

The mutation spectrum of the bestrophin protein--functional implications

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802291

Hereditary vitelliruptive macular degeneration

31 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Electro-Oculography in Best's Macular Dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Best's vitelliform macular dystrophy

1 reference

12 December 2020

Vitelliform macular dystrophy

1 reference

12 December 2020

The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function

1 reference

12 December 2020

Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy

1 reference

12 December 2020

Identifiers

PMC publication ID

2802291

1 reference

27 July 2017

1 reference