|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Proton Pump Inhibitors Decrease Phlebotomy Need in HFE Hemochromatosis: Double-Blind Randomized Placebo-Controlled Trial.
|
28624580 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
HFE, one of the most common autosomal recessive polymorphisms in the Caucasian population, originally associated with hemochromatosis, has also been associated with increased tumor burden, therapeutic resistance boost, and negative impact on patient survival.
|
28527894 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
From the hemochromatosis clinic cohort, six patients were diagnosed with non-HFE hemochromatosis due to homozygous hemojuvelin (HFE2) mutations.
|
27753142 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients.Am.J. Hematol.91:1202-1205, 2016.
|
27518069 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Two of these, the HFE- and non-HFE hemochromatosis syndromes represent the paradigms of genetic iron overload.
|
26725908 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in hepcidin and any genes that regulate the biology of hepcidin, including hemochromatosis genes (HFE), Hemojuvelin (HJV), transferring receptor 2 (TFR2) and FPN, result in hemochromatosis.
|
27031690 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
This report illustrates the beneficial effect of iron chelators in individuals with HFE hemochromatosis and poor tolerance of erythrocytapheresis.
|
27789107 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
|
26633544 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.
|
27124787 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
The review will focus on Wilson disease, alpha-1 antitrypsin deficiency, citrin deficiency, and HFE-associated hemochromatosis which are typically found in the adult population.
|
25467056 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
|
25457201 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis.
|
25495562 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Unusual retinopathy associated with hemochromatosis.
|
25767899 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
In treated HFE hemochromatosis, only patients with serum ferritin higher than 2000 μg/L have an increased mortality, mainly related to liver diseases.
|
25450707 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
HFE gene testing can be used to diagnose hemochromatosis in symptomatic patients, but analyses of liver histology and full gene sequencing are required to identify patients with rare, non-HFE forms of the disease.
|
26164493 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives.
|
26504855 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prothrombin G20210A mutation is associated with recurrent pregnancy loss: a systematic review and meta-analysis update.
|
25528068 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
We describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload.
|
26456104 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
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.
|
25311314 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.
|
25293352 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease.
|
25454304 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Whole exome sequencing offered complete coverage of target genes and is a fast, cost effective diagnostic tool for characterization of non-HFE hemochromatosis.
|
26142323 |
2015 |