Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 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
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
Uguen K et al.
American Journal of Hematology, 2017
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
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
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
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
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
EASL clinical practice guidelines for HFE hemochromatosis.
Unknown Author
Journal of Hepatology, 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
HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
Barton JC et al.
American Journal of Hematology, 2009
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
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
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
Iron overload in kidney transplants: prospective analysis of biochemical and genetic markers.
Lorenz M et al.
Kidney International, 2005
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
Jacolot S et al.
Blood, 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 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 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
A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations.
Oberkanins C et al.
Genetic Testing, 2000
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