Associated Papers
Incorrect Genotyping in a Hemochromatosis Patient Heterozygous for HFE C282Y and Q283P Variants.
Gils C et al.
International Journal of Laboratory Hematology, 2025
Computational analysis and molecular dynamics insights into deleterious SNPs of the HFE gene.
Islam MS et al.
Journal of Biomolecular Structure & Dynamics, 2025
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
Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis.
Poon KS et al.
Genetic Testing and Molecular Biomarkers, 2020
HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.
Campos WN et al.
Hla, 2017
HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients.
Turkmen E et al.
Hemodialysis International. International Symposium on Home Hemodialysis, 2017
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo L et al.
Blood Transfusion = Trasfusione Del Sangue, 2016
Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the Basque Country.
Castiella A et al.
International Journal of Laboratory Hematology, 2016
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Barton JC et al.
Gene, 2015
Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.
van Gammeren A et al.
British Journal of Haematology, 2015
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.
Sangiuolo F et al.
The European Respiratory Journal, 2015
A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.
Padula MC et al.
Blood Cells, Molecules & Diseases, 2014
Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.
Cézard C et al.
Blood Cells, Molecules & Diseases, 2014
The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.
Turedi A et al.
Pediatric Hematology and Oncology, 2013
Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.
Zamani F et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012
The functional significance of E277K and V295A HFE mutations.
Silva B et al.
British Journal of Haematology, 2012
Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.
Mahfouz RA et al.
Molecular Biology Reports, 2012
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Aguilar-Martinez P et al.
Haematologica, 2011
HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
Santos PC et al.
Blood Cells, Molecules & Diseases, 2010
Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.
Chandrasekharan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.
Mariani R et al.
Blood Cells, Molecules & Diseases, 2010
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.
Andreani M et al.
Haematologica, 2009
Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
Bittencourt PL et al.
Clinics (sao Paulo, Brazil), 2009
The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations.
Neri S et al.
Internal Medicine Journal, 2008
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
Dupradeau FY et al.
Human Mutation, 2008
New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.
de Diego C et al.
International Journal of Hematology, 2007
H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
de Diego C et al.
European Journal of Haematology, 2007
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
Ka C et al.
Human Genetics, 2005
Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.
Veneri D et al.
Leukemia Research, 2005
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
Iron overload in kidney transplants: prospective analysis of biochemical and genetic markers.
Lorenz M et al.
Kidney International, 2005
Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.
Mura C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004
HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.
Majore S et al.
Human Mutation, 2004
[Iron as comorbid factor in chronic hepatitis C].
Erhardt A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
Iron overload in acute myeloid leukemia patients is not related to HFE and TFR2 gene mutations.
Veneri D et al.
Haematologica, 2003
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
De Gobbi M et al.
Haematologica, 2003
HFE gene mutations an Apulian population: allele frequencies.
Pietrapertosa A et al.
European Journal of Epidemiology, 2003
Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population.
Lio D et al.
Genes and Immunity, 2002
A very rare association of three mutations of the HFE gene for hemochromatosis.
Menardi G et al.
Genetic Testing, 2002
Genetic testing for HFE gene mutations related to hereditary hemochromatosis.
Unknown Author
Tecnologica. Map Supplement. Blue Cross and Blue Shield Association. Medical Advisory Panel, 2001
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Le Gac G et al.
Blood Cells, Molecules & Diseases, 0
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Oberkanins C
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
[Heterozygosis H63D in patients with steatohepatitis and chronic hepatitis C].
Pulvirenti D et al.
La Clinica Terapeutica, 0
Iron storage disease in red deer (Cervus elaphus elaphus) is not associated with mutations in the HFE gene.
Olias P et al.
Journal of Comparative Pathology, 0
Hfe mutations and iron overload in patients with alcoholic liver disease.
Costa-Matos L et al.
Arquivos De Gastroenterologia, 0
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.
Ferro E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0