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
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K et al.
Blood, 2018
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
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
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
Bardou-Jacquet E et al.
British Journal of Haematology, 2013
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.
Bartnikas TB et al.
Comparative Medicine, 2013
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
Molecular diagnosis of genetic iron-overload disorders.
Brissot P et al.
Expert Review of Molecular Diagnostics, 2010
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
Hsiao PJ et al.
Journal of Hepatology, 2007
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
Lee PL et al.
Acta Haematologica, 2006
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