Associated Papers
Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients.
El-Gharbawi N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023
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
Juvenile Hemochromatosis: A Case Report and Review of the Literature.
Takami A et al.
Pharmaceuticals (basel, Switzerland), 2020
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 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
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
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
Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
de Lima Santos PC et al.
Genetic Testing and Molecular Biomarkers, 2010
Analysis of the HFE gene (C282Y, H63D and S65C) mutations in a general Chinese Han population.
Lin A et al.
Tissue Antigens, 2007
Frequency of the hemochromatosis gene (HFE) 282C-->Y, 63H-->D, and 65S-->C mutations in a general Mediterranean population from Tarragona, Spain.
Aranda N et al.
Annals of Hematology, 2007
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
Barton JC et al.
Bmc Medical Genetics, 2004
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
Lee PL et al.
British Journal of Haematology, 2004
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
Lee PL et al.
Blood, 2004
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece.
Pissia M et al.
Haematologica, 2004
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G et al.
Nature Genetics, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0