Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In earlier stages, BIGH3 mutation analysis may help to distinguish ACD from GCD, particularly in young patients.
|
18465714 |
2008 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.
|
18332318 |
2008 |
Avellino corneal dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The present study investigated the effect of mitomycin C (MMC) on cell viability, apoptosis, and transforming growth factor beta-induced protein (TGFBIp) expression in cultured normal corneal fibroblasts and heterozygote or homozygote granular corneal dystrophy type II (GCD II) corneal fibroblasts.
|
18615204 |
2008 |
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees.
|
18290950 |
2008 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD.
|
17317389 |
2007 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor beta-induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma.
|
17846354 |
2007 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene.
|
17096061 |
2007 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy.
|
14767644 |
2004 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman.
|
15059726 |
2004 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of ACD families in the United Kingdom and, furthermore, of BIGH3 gene mutation in British patients with this rare type of corneal dystrophy.
|
12812879 |
2003 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study was undertaken to identify beta ig-h3 gene mutations in Japanese patients with granular corneal dystrophy (GCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), and Reis-Bücklers' corneal dystrophy (RBCD).
|
10832717 |
2000 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that codons R124 and R555 of the TGFBI gene are also hot spots in Japanese patients with ACD, LCD, GCD, and RBCD.
|
11095060 |
2000 |
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy (Arg124His).
|
9860011 |
1998 |