Associated Papers
Genetic variants underlying precancerous conditions of hepatocellular carcinoma.
Guerrero JJG et al.
International Journal of Cancer, 2026
Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.
Sokkar MF et al.
Biochemical Genetics, 2025
Assessing the digenic model in rare disorders using population sequencing data.
Moreno-Ruiz N et al.
European Journal of Human Genetics : Ejhg, 2022
Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y.
Barton JC et al.
Plos One, 2022
Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan.
Shah M et al.
Molecular Genetics & Genomic Medicine, 2020
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia.
Pandey S et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2018
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Lanktree MB et al.
European Journal of Haematology, 2017
Movement Disorders Associated With Hemochromatosis.
Kumar N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2016
Influence of iron regulating genes mutations on iron status in Egyptian patients with sickle cell disease.
Abdel Rahman HA et al.
Annals of Clinical and Laboratory Science, 2014
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.
Hattori A et al.
Blood Cells, Molecules & Diseases, 2012
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Non-HFE hemochromatosis.
Santos PC et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France.
Du Thanh A et al.
Acta Dermato-venereologica, 2011
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
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
Altès A et al.
Annals of Hematology, 2009
Down-regulation of hepcidin in porphyria cutanea tarda.
Ajioka RS et al.
Blood, 2008
The N-terminus of hepcidin is essential for its interaction with ferroportin: structure-function study.
Nemeth E et al.
Blood, 2006
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
[Non-HFE related hereditary iron overload].
Brissot P et al.
Gastroenterologie Clinique Et Biologique, 2005
HFE gene mutations in susceptibility to childhood leukemia: HuGE review.
Dorak MT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
Delatycki MB et al.
Clinical Genetics, 2004
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).
Roetto A et al.
Blood, 2004
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Biasiotto G et al.
Clinical Chemistry, 2003
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Merryweather-Clarke AT et al.
Human Molecular Genetics, 2003
[Iron overload and HFE gene].
Deugnier Y et al.
Gastroenterologie Clinique Et Biologique, 1999
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.
Biasiotto G et al.
Blood Cells, Molecules & Diseases, 0