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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
To test whether genetic haemochromatosis is associated with myocardial infarction, we determined the prevalence of three mutations in the HFE gene (Cys282Tyr, His63Asp and Ser65Cys) in a 2 : 1 case-control study including 177 patients who survived an acute myocardial infarction and 89 controls.
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11886425 |
2002 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.
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11874997 |
2002 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.
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11887210 |
2002 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D.
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11783952 |
2003 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy.
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12678056 |
2003 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
Our study shows that the HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis.
|
12673276 |
2003 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods.
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14703688 |
2003 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
There are limited data on the frequency and biochemical expression of the haemochromatosis-associated mutations C282Y and H63D in healthy people.
|
14642607 |
2003 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
The mutations investigated here (C282Y, H63D and S65C) are often the mutation targets used in the genetic testing for haemochromatosis.
|
14737579 |
2004 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Moreover, further studies are needed to elucidate the role of this mutation in the development of HH and the genetic, environmental or other factors that affect the genotype-phenotype correlation between H63D and hemochromatosis.
|
15727249 |
2004 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
Two specific, single point mutations of the HFE gene (C282Y and H63D) have been described in haemochromatosis patients.
|
15061375 |
2004 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
We found differences [using the chi-square (chi2) test] in the frequency of the H63D mutation between the control group and the group of hemochromatosis patients (p<0.01).
|
15517265 |
2005 |
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rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
Two sites of point mutations in the HFE gene, C282Y and H63D, are associated with more than 80% of haemochromatosis cases.
|
16419611 |
2005 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up.
|
15805002 |
2005 |
|
rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
HFE-associated hemochromatosis (HH) defined as homozygosity for the C282Y (n = 14, 7.2%) mutation or compound heterozygosity for the C282Y/H63D (n = 11, 5.6%) mutation was identified in 12.8% of patients.
|
16083706 |
2005 |
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rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
Analysis of the hemochromatosis mutations C282Y and H63D in infertile men.
|
17067586 |
2006 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
We evaluated the associations of self-reported diabetes with serum ferritin concentration, transferrin saturation (TfSat), and HFE C282Y and H63D mutations in six racial/ethnic groups recruited at five field centers in the Hemochromatosis and Iron Overload Screening (HEIRS) study.
|
16936157 |
2006 |
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rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
To assess geographic differences in the frequencies of HFE C282Y and H63D genotypes in six racial/ethnic groups recruited in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
17061732 |
2006 |
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rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.
|
16979952 |
2006 |
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rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
Hemochromatosis and iron overload screening (HEIRS) Study is an ongoing, multiethnic, primary care-based study of 101,168 North American adults, including 12,772 Asians, a group that the HEIRS Study found has a significantly higher than expected prevalence of elevated serum TS and SF but very low prevalence of the common C282Y and H63D HFE alleles usually associated with hereditary hemochromatosis.
|
17240320 |
2007 |
|
rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
Liver is the primary target organ of Hereditary Hemochromatosis Type I, with the HFE mutations C282Y and H63D recognized as markers of this iron-overload disease.
|
17428702 |
2007 |
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rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
She was heterozygous for the common H63D mutation of the hemochromatosis-associated HFE gene.
|
17919354 |
2007 |
|
rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
Although hemochromatosis is associated with pancreatic pathology, the p.C282Y and p.H63D variants do not play a significant role in the pathogenesis of chronic pancreatitis or pancreatic adenocarcinoma.
|
17666895 |
2007 |
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rs1799945
|
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0.100 |
GeneticVariation |
BEFREE |
We studied 45 H63D homozygotes (31 males and 14 females) with biochemical iron overload and/or clinical features of haemochromatosis.
|
17042772 |
2007 |
|
rs1799945
|
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|
0.100 |
GeneticVariation |
BEFREE |
We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes.
|
17726683 |
2008 |