|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry.
|
28267532 |
2017 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary hemochromatosis (HHC) is the most commonly identified autosomal recessive genetic disorder in the Caucasian population and HFE gene mutations are highly concentrated among European populations.
|
21689013 |
2011 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Iron overload secondary to end-stage liver disease can be associated with iron deposition in other organs in the absence of HFE-1 HHC.
|
15910487 |
2005 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The assay targets the three common variants at the HFE locus associated with the genetic disease hereditary hemochromatosis (HHC).
|
11230165 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The high correlation of HFE to HHC has caused it to be considered as a candidate gene for population-based genetic testing for diagnosis and detection of predisposition to HHC.
|
11224684 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify a new marker of expression of disease, independent of HFE genotype in patients with hereditary haemochromatosis (HHC), the total peripheral blood lymphocyte counts were analysed according to iron status in two groups of subjects with HFE mutations.
|
11722599 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HFE protein cause HHC, but the clinical presentation is variable.
|
11310426 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC.
|
11479183 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Even in the absence of mutations in its coding region, the HFE gene might be involved in the pathogenesis of HHC through inhibition of transcription of the gene or reduced stability of its mRNA.
|
10942923 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the class I-like major histocompatibility complex gene called HFE are associated with hereditary hemochromatosis (HHC), a disorder of excessive iron uptake.
|
10861683 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, a gene associated with HHC was discovered and named HFE.
|
10488796 |
1999 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recently detected association between two point mutations in the HFE gene on chromosome 6p and HHC has made it possible to screen for the disease before the onset of irreversible tissue damage.
|
10376150 |
1999 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine whether there is an association of NASH and mutations in the HFE gene associated with hereditary hemochromatosis (HHC).
|
10488699 |
1999 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
He was also found to be heterozygous for the cys282tyr mutation of the HFE gene, which is the chief cause of HLA-linked hereditary hemochromatosis (HHC).
|
9732941 |
1998 |