|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
GeneticVariation
|
BEFREE |
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.
|
11887210 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.090 |
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, TYPE 1
|
|
0.090 |
GeneticVariation
|
BEFREE |
All the C282Y homozygotes shared the same HFE polymorphism.
|
11500063 |
2001 |
|
Hereditary hemochromatosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA)-A locus.
|
24282517 |
2013 |
|
Hereditary hemochromatosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
One of these (C282Y) is present in a large proportion of Caucasian HH patients.
|
12753664 |
2003 |
|
Hereditary hemochromatosis
|
|
0.080 |
GeneticVariation
|
BEFREE |
The most common mutation of HFE, C282Y, has a Celtic origin and most patients with HH are homozygous for it in Northern European populations.
|
12002748 |
2002 |