Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
41633988 (PubMed )
Supplement: 41467_2025_65511_MOESM3_ESM.xlsx › Sheet1
A novel hepcidin mutation.
Praeger-Jahnsen L et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
37745687 (PubMed )
Supplement: Table2.xlsx › TableS2
Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.
Soukarieh O et al.
Frontiers in Cardiovascular Medicine, 2022
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
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
Hypereosinophilic syndrome variants: diagnostic and therapeutic considerations.
Roufosse F
Haematologica, 2009
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Mendes AI et al.
Annals of Hematology, 2009
Relative contribution of iron genes, dysmetabolism and hepatitis C virus (HCV) in the pathogenesis of altered iron regulation in HCV chronic hepatitis.
Valenti L et al.
Haematologica, 2007
A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.
Porto G et al.
Blood, 2005
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