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
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Heterozygous BMP6 Variants Coupled With HFE Variants.
Bignell P et al.
Gastroenterology, 2016
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
Faria R et al.
Blood Cells, Molecules & Diseases, 2016
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Barton JC et al.
Gene, 2015
Hemochromatosis: Niche Construction and the Genetic Domino Effect in the European Neolithic.
McCullough JM et al.
Human Biology, 2015
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
The functional significance of E277K and V295A HFE mutations.
Silva B et al.
British Journal of Haematology, 2012
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
Santos PC et al.
Blood Cells, Molecules & Diseases, 2010
EASL clinical practice guidelines for HFE hemochromatosis.
Unknown Author
Journal of Hepatology, 2010
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Mendes AI et al.
Annals of Hematology, 2009
HFE gene mutations in a population of Italian Parkinson's disease patients.
Biasiotto G et al.
Parkinsonism & Related Disorders, 2008
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous.
Karimi M et al.
The Hematology Journal : the Official Journal of the European Haematology Association, 2004
A previously undescribed nonsense mutation of the HFE gene.
Beutler E et al.
Clinical Genetics, 2002
Molecular testing for hereditary hemochromatosis.
Liang Q et al.
Expert Review of Molecular Diagnostics, 2002
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
Le Gac G et al.
Clinical Chemistry, 2001
Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.
Bradbury R et al.
Human Mutation, 2000
Uncommon mutations and polymorphisms in the hemochromatosis gene.
Pointon JJ et al.
Genetic Testing, 2000
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0