Associated Papers
HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.
Zarifian Yeganeh R et al.
Genetic Testing and Molecular Biomarkers, 2024
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
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K et al.
Blood, 2018
HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients.
Turkmen E et al.
Hemodialysis International. International Symposium on Home Hemodialysis, 2017
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo L et al.
Blood Transfusion = Trasfusione Del Sangue, 2016
Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the Basque Country.
Castiella A et al.
International Journal of Laboratory Hematology, 2016
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.
Sangiuolo F et al.
The European Respiratory Journal, 2015
Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.
Zamani F et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012
Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.
Mahfouz RA et al.
Molecular Biology Reports, 2012
The use of a reverse hybridization strip assay for the study of hemochromatosis-associated gene mutations in Lebanon.
Daher RT et al.
Genetic Testing and Molecular Biomarkers, 2011
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
Tomaiuolo R et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient.
Ricerca BM et al.
European Journal of Haematology, 2009
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.
Pelucchi S et al.
Haematologica, 2009
Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
Bittencourt PL et al.
Clinics (sao Paulo, Brazil), 2009
New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.
de Diego C et al.
International Journal of Hematology, 2007
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
Hsiao PJ et al.
Journal of Hepatology, 2007
H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
de Diego C et al.
European Journal of Haematology, 2007
Clinical expression of C282Y homozygous HFE haemochromatosis at 14 years of age.
Rossi E et al.
Annals of Clinical Biochemistry, 2006
Hereditary iron overload: update on pathophysiology, diagnosis, and treatment.
Franchini M
American Journal of Hematology, 2006
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
Ferrari F et al.
Human Mutation, 2006
Recent advances in hereditary hemochromatosis.
Franchini M et al.
Annals of Hematology, 2005
Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.
Abraham BK et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 2005
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C et al.
Haematologica, 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
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G et al.
British Journal of Haematology, 2004
Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.
Kotze MJ et al.
Clinical Genetics, 2004
Of mice and men: genetic determinants of iron status.
McGregor J et al.
The Proceedings of the Nutrition Society, 2004
Is genetic screening for hemochromatosis worthwhile?
Njajou OT et al.
European Journal of Epidemiology, 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
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
De Gobbi M et al.
Haematologica, 2003
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
Le Gac G et al.
Clinical Chemistry, 2001
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Roetto A et al.
Blood, 2001
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload.
Lee PL et al.
Blood Cells, Molecules & Diseases, 0
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis.
Papanikolaou G et al.
Blood Cells, Molecules & Diseases, 0
Hemochromatosis due to mutations in transferrin receptor 2.
Roetto A et al.
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE.
Papanikolaou G et al.
Blood Cells, Molecules & Diseases, 0
G80S-linked ferroportin disease: the first clinical description in a Greek family.
Mougiou A et al.
Blood Cells, Molecules & Diseases, 0
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
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.
Ferro E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.
de Melo Campos P et al.
Hematology, Transfusion and Cell Therapy, 0