Associated Papers
HJV mutations causing hemochromatosis: variable phenotypic expression in a pair of twins.
Vadivelan A et al.
Haematologica, 2024
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Juvenile Hemochromatosis: A Case Report and Review of the Literature.
Takami A et al.
Pharmaceuticals (basel, Switzerland), 2020
Repulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.
Malinauskas T et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
Repulsive guidance molecule is a structural bridge between neogenin and bone morphogenetic protein.
Healey EG et al.
Nature Structural & Molecular Biology, 2015
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
Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
de Lima Santos PC et al.
Genetic Testing and Molecular Biomarkers, 2010
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
HFE gene mutations in susceptibility to childhood leukemia: HuGE review.
Dorak MT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
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
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
Le Gac G et al.
Human Molecular Genetics, 2004
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
Lee PL et al.
Blood, 2004
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Lanzara C et al.
Blood, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0