|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
|
31254423 |
2019 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the BEST1 gene lead to a variety of retinal degenerations including Best's vitelliforme macular degeneration.
|
26427483 |
2016 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Because A2E accumulation in the RPE is associated with pathogenesis of both Stargardt disease and age-related macular degeneration (AMD) in humans, deletion of Abca4 was introduced into Atg7(flox/flox);VMD2-rtTA-cre+ mice to investigate the role of autophagy during A2E accumulation.
|
26468292 |
2015 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the BEST1 gene lead to a variety of retinal degenerations, among them Best's vitelliforme macular degeneration.
|
24664688 |
2014 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the hBest1 (VMD2) gene are linked to various kinds of macular degeneration, including Best vitelliform macular dystrophy (BVMD) and adult-onset vitelliform macular dystrophy (AVMD).
|
17898294 |
2007 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy.
|
16707793 |
2006 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.
|
16885924 |
2006 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy.
|
16707793 |
2006 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The one patient without a mutation in the VMD2 gene had age-related macular degeneration (AMD).
|
13129869 |
2003 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
|
10798642 |
2000 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data exclude a direct role of VMD2 in the predisposition to AMD.
|
10854112 |
2000 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
Results of analysis in two large series of individuals with age-related macular degeneration (AMD) suggest that VMD2 does not play a major role in this prevalent disorder.
|
10737974 |
2000 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that the analysis of bestrophin in a collection of 259 age-related macular degeneration (AMD) patients provides evidence that mutations in the Best disease gene do not play a significant role in the predisposition of individuals to AMD.
|
10453731 |
1999 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells.
|
9662395 |
1998 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|