|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
The differential diagnosis includes PRPH2-associated CACD and age-related macular degeneration.
|
31387115 |
2019 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic screening for genes associated with macular dystrophies, especially PRPH2, can be beneficial to help identify AMD-mimicking dystrophies.
|
30215852 |
2018 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD).
|
29961824 |
2018 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we took advantage of a transgenic mouse line expressing an RDS mutant (R172W) known to cause macular degeneration (MD) in humans.
|
24463884 |
2014 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
|
20213611 |
2011 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A total of 30 CACD patients with identified PRPH2 gene mutations were analyzed and compared to 19 patients with early AMD and 13 patients with AMD-associated GA.
|
22003107 |
2011 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
|
20335603 |
2010 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions.
|
19262438 |
2009 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy.
|
16916875 |
2007 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
LHGDN |
Analysis of the RDS/peripherin gene in age-related macular degeneration.
|
17362467 |
2007 |
|
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 |
BEFREE |
A deletion of Asn169 in the peripherin/RDS protein causes a peculiar form of autosomal dominant macular dystrophy in a large family from the Netherlands.
|
14557182 |
2003 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
PMSG was applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosomal dominant macular degeneration.
|
12902384 |
2003 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The RDS mutation in codon 141 is associated with an unusual AMD-like late-onset maculopathy.
|
12882809 |
2003 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human RDS gene are responsible for several forms of inherited blindness including autosomal-dominant retinitis pigmentosa and macular degeneration.
|
10704489 |
2000 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of the peripherin/RDS gene as a candidate gene in families with age-related macular degeneration.
|
10202289 |
1999 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.
|
8602784 |
1996 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
|
8045710 |
1994 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that mutations in the rds gene can be expressed as a macular dystrophy, with evidence of primary cone dysfunction and preservation of peripheral rod function.
|
8302543 |
1994 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa.
|
8058286 |
1994 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
|
8485576 |
1993 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|