Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron loading in p.C282Y homozygous HFE hemochromatosis subjects is highly variable, and it is unclear what factors cause this variability.
|
28678636 |
2017 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
CONCLUSIONS In nonscreening hemochromatosis probands with HFE C282Y homozygosity, a heritable factor(s) increases the risk of diabetes diagnosed before hemochromatosis.
|
23990522 |
2014 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas.
|
24282517 |
2013 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload.
|
19912313 |
2010 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.
|
16509978 |
2006 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload.
|
15607698 |
2005 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Direct comparison of the telomerically extended portion of the MS susceptibility haplotype in HFE-Cys282Tyr (C282Y)-homozygous haemochromatosis patients identified a common ancestry for this genomic segment, which translated into an increased frequency of the C282Y allele in 489 MS cases from Tasmania and Victoria (10.2%) compared with controls (6.7%).
|
15014978 |
2004 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Eight of 240 CVID or IgGSD index patients had hemochromatosis phenotypes and C282Y homozygosity (3 vs 0.7% and 0.2% controls; P < 0.0001, respectively).
|
12850493 |
2004 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The origin and spread of the HFE-C282Y haemochromatosis mutation.
|
15290237 |
2004 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.
|
11887210 |
2002 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A woman who inherited C282Y also possessed HLA-A3, -B7 which is considered part of the ancestral haplotype containing the gene predisposing to hemochromatosis in Caucasians.
|
11763282 |
2001 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
To localize and identify the modifying genes, we investigated eight families including C282Y homozygous relatives showing no clinical signs of the disease, in addition to the hemochromatosis patients.
|
11500063 |
2001 |
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis.
|
9864039 |
1998 |