Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Barton JC et al.
Gene, 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
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
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
Clinical perspectives on hereditary hemochromatosis.
Ayonrinde OT et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.
Cukjati M et al.
Clinical Genetics, 2007
[Molecular genetic diagnostics and screening of hereditary hemochromatosis].
Zlocha J et al.
Vnitrni Lekarstvi, 2006
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
[Non-HFE related hereditary iron overload].
Brissot P et al.
Gastroenterologie Clinique Et Biologique, 2005
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 2005
Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.
Gonzalez-Hevilla M et al.
Journal of Gastroenterology and Hepatology, 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
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote.
Barton JC et al.
Clinical Genetics, 2004
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
Jacolot S et al.
Blood, 2004
Of mice and men: genetic determinants of iron status.
McGregor J et al.
The Proceedings of the Nutrition Society, 2004
[Iron as comorbid factor in chronic hepatitis C].
Erhardt A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.
Holmström P et al.
Gut, 2002
Sequence variation and haplotype structure at the human HFE locus.
Toomajian C et al.
Genetics, 2002
Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?
Ryan E et al.
Gut, 2002
Pathogenesis of hereditary hemochromatosis: genetics and beyond.
Britton RS et al.
Seminars in Gastrointestinal Disease, 2002
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.
Bittencourt PL et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2002
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Egger NG et al.
Digestive Diseases and Sciences, 2002
A previously undescribed nonsense mutation of the HFE gene.
Beutler E et al.
Clinical Genetics, 2002
HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping.
Koefoed P et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2002
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.
Melis MA et al.
Genetic Testing, 2002
HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.
de Juan D et al.
European Journal of Human Genetics : Ejhg, 2001
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.
Roy CN et al.
Human Molecular Genetics, 2001
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
Le Gac G et al.
Clinical Chemistry, 2001
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Roetto A et al.
Blood, 2001
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.
Dereure O et al.
The British Journal of Dermatology, 2001
Hereditary hemochromatosis since discovery of the HFE gene.
Lyon E et al.
Clinical Chemistry, 2001
A primer for predicting risk of disease in HFE-linked hemochromatosis.
Adams PC et al.
Genetic Testing, 2001
Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.
Piperno A et al.
Gastroenterology, 2000
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca.
Guix P et al.
Clinical Genetics, 2000
Are hereditary hemochromatosis mutations involved in Alzheimer disease?
Moalem S et al.
American Journal of Medical Genetics, 2000
Inherited metabolic disease.
Schilsky ML et al.
Current Opinion in Gastroenterology, 2000
Uncommon mutations and polymorphisms in the hemochromatosis gene.
Pointon JJ et al.
Genetic Testing, 2000
Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama.
Barton JC et al.
Genetic Testing, 2000
[Hereditary hemochromatosis: biochemical and genetic diagnosis].
Quintero E
Gastroenterologia Y Hepatologia, 1999
[Iron overload and HFE gene].
Deugnier Y et al.
Gastroenterologie Clinique Et Biologique, 1999
[Seip-Lawrence syndrome associated with polyostotic fibrous dysplasia. Report of a case].
Peinado Cabrera EJ et al.
Anales De Medicina Interna (madrid, Spain : 1984), 1997
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.
Barton JC et al.
Blood Cells, Molecules & Diseases, 0
Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.
Barton JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0