EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 24, Issue 4, Pages 479-495
Publisher
Springer Nature
Online
2015-07-08
DOI
10.1038/ejhg.2015.128
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Iron Overload Is Rare in Patients Homozygous for the H63D Mutation
- (2016) Melissa Kelley et al. Canadian Journal of Gastroenterology and Hepatology
- Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis
- (2014) A. E. Donker et al. BLOOD
- The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
- (2014) Emerência Teixeira et al. PATIENT EDUCATION AND COUNSELING
- Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations
- (2013) Edouard Bardou-Jacquet et al. BRITISH JOURNAL OF HAEMATOLOGY
- Iron storage disease in Asia-Pacific populations: The importance of non-HFEmutations
- (2013) Cameron J McDonald et al. JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
- Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload
- (2012) Maja Vujić Spasić et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Phenotypic and clinical manifestations of compound heterozygous genetic haemochromatosis (CHGH): a non-invasive approach to clinical management
- (2012) R. Ramakrishna et al. INTERNAL MEDICINE JOURNAL
- WHO European review of social determinants of health and the health divide
- (2012) Michael Marmot et al. LANCET
- Iron Overload in Human Disease
- (2012) Robert E. Fleming et al. NEW ENGLAND JOURNAL OF MEDICINE
- Increased Risk of Arthropathies and Joint Replacement Surgery in Patients With Genetic Hemochromatosis: A Study of 3,531 Patients and Their 11,794 First-Degree Relatives
- (2012) Maria Elmberg et al. ARTHRITIS CARE & RESEARCH
- Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population
- (2011) Laimutis Kucinskas et al. ANNALS OF HEMATOLOGY
- Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants
- (2011) P. Aguilar-Martinez et al. HAEMATOLOGICA
- Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases
- (2011) Bruce R. Bacon et al. HEPATOLOGY
- Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study
- (2011) Paul C. Adams et al. HEPATOLOGY
- A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation
- (2011) Paul C. Adams et al. JOURNAL OF HEPATOLOGY
- The number of women who would need to be screened regularly by mammography to prevent one death from breast cancer
- (2011) Valerie Beral et al. JOURNAL OF MEDICAL SCREENING
- Health check-ups and family screening allow detection of hereditary hemochromatosis with less advanced liver fibrosis and survival comparable with the general population
- (2011) Soo Aleman et al. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
- Iron disorders of genetic origin: a changing world
- (2011) Pierre Brissot et al. TRENDS IN MOLECULAR MEDICINE
- Hemochromatosis Genotypes and Risk of Iron Overload—A Meta-Analysis
- (2010) Adriana Maria Neghina et al. ANNALS OF EPIDEMIOLOGY
- Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain
- (2010) Núria Aranda et al. ANNALS OF HEMATOLOGY
- How I treat hemochromatosis
- (2010) P. C. Adams et al. BLOOD
- Approaches to quality management and accreditation in a genetic testing laboratory
- (2010) Sarah Berwouts et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- HFECys282Tyr homozygotes with serum ferritin concentrations below 1000 μg/L are at low risk of hemochromatosis
- (2010) Katrina J. Allen et al. HEPATOLOGY
- Ferroportin disease: A systematic meta-analysis of clinical and molecular findings
- (2010) Roman Mayr et al. JOURNAL OF HEPATOLOGY
- EASL clinical practice guidelines for HFE hemochromatosis
- (2010) JOURNAL OF HEPATOLOGY
- Serum Iron Parameters, HFE C282Y Genotype, and Cognitive Performance in Older Adults: Results From the FACIT Study
- (2010) Olga J. G. Schiepers et al. JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
- The Natural History of Untreated HFE-Related Hemochromatosis
- (2009) Paul C. Adams ACTA HAEMATOLOGICA
- Rare Types of Genetic Hemochromatosis
- (2009) Clara Camaschella et al. ACTA HAEMATOLOGICA
- Extrinsic factors modifying expressivity of the HFE variant C282Y, H63D, S65C phenotypes in 1,294 Danish men
- (2009) Palle Pedersen et al. ANNALS OF HEMATOLOGY
- Iron overload in the Asian community
- (2009) C. Y. Lok et al. BLOOD
- Increased Mortality Risk in Patients With Phenotypic Hereditary Hemochromatosis But Not in Their First-Degree Relatives
- (2009) Maria Elmberg et al. GASTROENTEROLOGY
- Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia
- (2009) G. Le Gac et al. HAEMATOLOGICA
- HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity
- (2009) Lyle C. Gurrin et al. HEPATOLOGY
- Differences in Hepatic Phenotype Between Hemochromatosis Patients With HFE C282Y Homozygosity and Other HFE Genotypes
- (2009) Raymond Cheng et al. JOURNAL OF CLINICAL GASTROENTEROLOGY
- BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism
- (2009) Billy Andriopoulos Jr et al. NATURE GENETICS
- Population Screening for Genetic Disorders in the 21st Century: Evidence, Economics, and Ethics
- (2009) S.D. Grosse et al. Public Health Genomics
- Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study
- (2009) G. D. McLaren et al. Hematology-American Society of Hematology Education Program
- Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population
- (2008) Victor R. Gordeuk et al. AMERICAN JOURNAL OF HEMATOLOGY
- Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men
- (2008) Palle Pedersen et al. ANNALS OF HEMATOLOGY
- The Natural History of Serum Iron Indices for HFE C282Y Homozygosity Associated With Hereditary Hemochromatosis
- (2008) Lyle C. Gurrin et al. GASTROENTEROLOGY
- Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: The HEmochromatosis FAmily Study
- (2008) Esther M.G. Jacobs et al. JOURNAL OF HEPATOLOGY
- Iron-Overload–Related Disease inHFEHereditary Hemochromatosis
- (2008) Katrina J. Allen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Screening for hemochromatosis by measuring ferritin levels: a more effective approach
- (2007) J. Waalen et al. BLOOD
- A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients
- (2007) Dorine W. Swinkels et al. BLOOD CELLS MOLECULES AND DISEASES
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started