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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The aims of this study were: 1) To determine the prevalence of the hemochromatosis associated mutations C282Y and H63D of the HFE gene in patients from Southern Germany with hemochromatosis phenotype; and 2) to test two new, time- and cost-saving methods: automated SSCP-based capillary electrophoresis (SSCP-CE) and a PCR-ELISA technique for the analysis of HFE mutations.
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11686223 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
A polymerase chain reaction method using sequence specific primers is described which might be useful for identifying those individuals carrying the mutation that encodes the His63Asp substitution, who might be at risk from a milder form of haemochromatosis.
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9893753 |
1998 |
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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.
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17726683 |
2008 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Analysis of the hemochromatosis mutations C282Y and H63D in infertile men.
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17067586 |
2006 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.
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25311314 |
2015 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases.
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22048270 |
2011 |
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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.
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17240320 |
2007 |
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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.
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17428702 |
2007 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Twenty-three family members had HFE genotype C282Y/H63D; eight of these (35%) had a hemochromatosis phenotype.
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11336458 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
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24439478 |
2014 |
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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.
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14737579 |
2004 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
We used the LightCycler technology for simultaneous detection of the H63D and C282Y mutations of the HFE gene in patients with a higher prevalence for hemochromatosis.
|
11676983 |
2001 |
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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.
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17919354 |
2007 |
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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 |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
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26365338 |
2015 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Two hundred and fifty samples were genotyped for the C282Y and H63D hemochromatosis causing mutations by fluorescent melting curves.
|
9777937 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Two frequent mutations in the HFE gene, H63D and C282Y, are associated with hemochromatosis type I, an inherited iron overload disease and, possibly, with cancer.
|
20669231 |
2011 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
C282Y/H63D compound heterozygotes and other non-C282Y homozygotes which express the hepatic hemochromatosis phenotype frequently have evidence of steatosis or chronic hepatitis and lower body iron stores than C282Y homozygotes.
|
19359997 |
2009 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
An Irish/Belgian female with an elevated serum ferritin level and a family history of hemochromatosis was tested for the presence of the C282Y and H63D mutations.
|
11531973 |
2001 |
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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.
|
12678056 |
2003 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
We analyzed the hemochromatosis mutations C282Y and H63D in liver biopsies and serum samples of 190 German patients (mean age 48+/-12.5 years) with sporadic PCT.
|
11499833 |
2001 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke.
|
24081379 |
2014 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
To test whether genetic haemochromatosis is associated with increased atherosclerosis, we determined the prevalence of two mutations in the HFE gene related to haemochromatosis (845G-->A; Cys282Tyr. and 187 C-->G, His63Asp) in 265 consecutive patients with premature (<50 years of age) angiographically-proven atherosclerotic disease (coronary and/or peripheral), and in 272 healthy controls.
|
9753040 |
1998 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
Compared with those who had no HFE mutation, the relative risk (RR) for hemochromatosis was greatest for C282Y homozygotes (RR = 147), compound heterozygotes (RR = 19), and H63D homozygotes (RR = 9).
|
10403350 |
1999 |
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rs1799945
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0.100 |
GeneticVariation |
BEFREE |
It is unclear whether screening of relatives of C282Y and H63D heterozygotes (other than compound heterozygotes) for hemochromatosis will detect sufficient numbers of cases to justify introduction of this screening strategy.
|
12121511 |
2002 |