Associated Papers
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
EASL clinical practice guidelines for HFE hemochromatosis.
Unknown Author
Journal of Hepatology, 2010
Clinical perspectives on hereditary hemochromatosis.
Ayonrinde OT et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
HFE gene in primary and secondary hepatic iron overload.
Sebastiani G et al.
World Journal of Gastroenterology, 2007
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
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
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
Hereditary hemochromatosis since discovery of the HFE gene.
Lyon E et al.
Clinical Chemistry, 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
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
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 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