Associated Papers
Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.
Abadía Molina C et al.
Medicina Clinica, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
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
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
Causes of iron overload in blood donors - a clinical study.
Laursen AH et al.
Vox Sanguinis, 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
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
Non-HFE hemochromatosis.
Santos PC et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
Rochette J et al.
Human Genetics, 2010
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
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C et al.
Haematologica, 2005
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 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
Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.
Hofmann WK et al.
Blood, 2002
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