Associated Papers
A novel hepcidin mutation.
Praeger-Jahnsen L et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2023
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Wu HX et al.
Molecular Genetics & Genomic Medicine, 2020
Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia.
Pandey S et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2018
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients.
Fonseca PF et al.
Acta Haematologica, 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
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
Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH).
Fabio G et al.
Blood, 2007
Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent.
Agarwal S et al.
Clinical Genetics, 2006
Hemochromatosis: genetics and pathophysiology.
Beutler E
Annual Review of Medicine, 2006
A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin.
Lee P et al.
Acta Haematologica, 2006
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
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
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
[Non-HFE related hereditary iron overload].
Brissot P et al.
Gastroenterologie Clinique Et Biologique, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
Delatycki MB et al.
Clinical Genetics, 2004
HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.
Majore S et al.
Human Mutation, 2004
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).
Roetto A et al.
Blood, 2004
[Iron overload and HFE gene].
Deugnier Y et al.
Gastroenterologie Clinique Et Biologique, 1999
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0