Associated Papers
Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis.
Kalampokini S et al.
Diagnostics (basel, Switzerland), 2025
Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.
Abadía Molina C et al.
Medicina Clinica, 2024
HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.
Zarifian Yeganeh R et al.
Genetic Testing and Molecular Biomarkers, 2024
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla C et al.
Cancers, 2019
Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload.
de Campos WN et al.
World Journal of Hepatology, 2019
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
Faria R et al.
Blood Cells, Molecules & Diseases, 2016
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
Branco CC et al.
Plos One, 2015
[Analysis of H63D mutation in hemochromatosis (HFE) gene in populations of central Eurasia].
Khusainova RI et al.
Genetika, 2013
H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.
Dhillon BK et al.
Journal of Genetics, 2012
SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.
Yang Y et al.
Human Mutation, 2011
EASL clinical practice guidelines for HFE hemochromatosis.
Unknown Author
Journal of Hepatology, 2010
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.
Brakensiek K et al.
Clinical Genetics, 2009
Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination.
Curcio M et al.
European Journal of Haematology, 2008
Gene symbol: SLC40A1. Disease: primary iron overload.
Zaahl MG et al.
Human Genetics, 2005
Gene symbol: SLC40A1. Disease: Primary iron overload.
Zaahl MG et al.
Human Genetics, 2005
Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population.
de Lucas AP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
Zaahl MG et al.
Human Genetics, 2004
HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.
Shukla P et al.
The National Medical Journal of India, 0
A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.
Pointon JJ et al.
Blood Cells, Molecules & Diseases, 0