Associated Papers
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
Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis.
Dreikorn EN et al.
Frontiers in Genetics, 2024
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
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
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Hamdi-Rozé H et al.
American Journal of Hematology, 2016
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
Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene.
Hermine O et al.
Biochimie, 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
The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.
Turedi A et al.
Pediatric Hematology and Oncology, 2013
Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
Del-Castillo-Rueda A et al.
Gene, 2012
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
Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.
Mahfouz RA et al.
Molecular Biology Reports, 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
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
Clinical perspectives on hereditary hemochromatosis.
Ayonrinde OT et al.
Critical Reviews in Clinical Laboratory Sciences, 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
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
Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.
Abraham BK et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 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
Pathogenesis of hereditary hemochromatosis.
Fleming RE et al.
Clinics in Liver Disease, 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
Of mice and men: genetic determinants of iron status.
McGregor J et al.
The Proceedings of the Nutrition Society, 2004
Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.
Altes A et al.
Genetic Testing, 2004
Iron overload in acute myeloid leukemia patients is not related to HFE and TFR2 gene mutations.
Veneri D et al.
Haematologica, 2003
Genetic disorders of iron overload and the novel "ferroportin disease".
Cazzola M
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
Pathogenesis of hereditary hemochromatosis: genetics and beyond.
Britton RS et al.
Seminars in Gastrointestinal Disease, 2002
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 previously undescribed nonsense mutation of the HFE gene.
Beutler E et al.
Clinical Genetics, 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
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
Le Gac G et al.
Clinical Chemistry, 2001
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
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.
Swinkels DW et al.
Blood Cells, Molecules & Diseases, 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
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