Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report.
Tang S et al.
Frontiers in Genetics, 2022
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K et al.
Blood, 2018
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis.
Girelli D et al.
Haematologica, 2011
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient.
Ricerca BM et al.
European Journal of Haematology, 2009
The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.
Watkins S et al.
European Journal of Gastroenterology & Hepatology, 2008
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
Hsiao PJ et al.
Journal of Hepatology, 2007
Genetic background of primary iron overload syndromes in Japan.
Hayashi H et al.
Internal Medicine (tokyo, Japan), 2006
[Non-HFE related hereditary iron overload].
Brissot P et al.
Gastroenterologie Clinique Et Biologique, 2005
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G et al.
British Journal of Haematology, 2004
[Iron overload and HFE gene].
Deugnier Y et al.
Gastroenterologie Clinique Et Biologique, 1999
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
Radio FC et al.
Blood Cells, Molecules & Diseases, 0