Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Journal of the American Medical Association (JAMA)

• Publication date

  2001-05-02

• Fields of study

  Medicine

• Identifiers
  DOI 10.1001/JAMA.285.17.2216PMID 11325323
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Diagnosis of hemochromatosis.

  2002cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
• Molecular medicine and hemochromatosis: at the crossroads.

  1999cited by this paper
• A population-based study of the clinical expression of the hemochromatosis gene.

  1999cited by this paper
• Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri.

  1999cited by this paper
• The haemochromatosis gene: A global perspective and implications for the Asia–Pacific region

  1999cited by this paper
• The Hereditary Hemochromatosis Protein, HFE, Specifically Regulates Transferrin-mediated Iron Uptake in HeLa Cells*

  1999cited by this paper
• Iron overload in urban Africans in the 1990s

  1999cited by this paper
• [The prevalence of the Cys282Tyr mutation in the hemochromatosis gene in Cantabria in patients diagnosed with hereditary hemochromatosis].

  1999cited by this paper
• High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.

  1999cited by this paper
• Evidence from a Ghanaian Population of Known African Descent to Support the Proposition That Hemochromatosis Is a Caucasian Disorder

  1999cited by this paper
• Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population.

  1999cited by this paper
• Hereditary hemochromatosis: gene discovery and its implications for population-based screening.

  1998cited by this paper
• The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.

  1998cited by this paper
• Prevalence of Elevated Serum Transferrin Saturation in Adults in the United States

  1998cited by this paper
• Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany

  1998cited by this paper
• The significance of haemochromatosis gene mutations in the general population: implications for screening.

  1998cited by this paper
• The significance of haemochromatosis gene mutations in the general population: implications for screening

  1998cited by this paper
• Diagnosis of Hemochromatosis

  1998cited by this paper
• Management of Hemochromatosis

  1998cited by this paper
• The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

  1998cited by this paper
• Iron Overload, Public Health, and Genetics: Evaluating the Evidence for Hemochromatosis Screening

  1998influential reference
• Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.

  1998cited by this paper
• Hereditary haemochromatosis mutation frequencies in the general population

  1998cited by this paper
• DNA banking in epidemiologic studies.

  1997cited by this paper
• A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis.

  1997cited by this paper
• Global prevalence of putative haemochromatosis mutations.

  1997cited by this paper
• Iron overload disorders among Hispanics--San Diego, California, 1995.

  1996cited by this paper
• Mutation analysis in hereditary hemochromatosis.

  1996cited by this paper
• A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

  1996influential reference
• Informed consent for genetic research on stored tissue samples.

  1995cited by this paper
• Towards fully automated genome–wide polymorphism screening

  1995cited by this paper
• Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization.

  1995cited by this paper
• Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

  1988cited by this paper
• Applied Linear Regression (2nd ed.).

  1986cited by this paper
• Applied Linear Regression.

  1981cited by this paper

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  2024cites this paper
• A common variant in the iron regulatory gene (Hfe) alters the metabolic and transcriptional landscape in brain regions vulnerable to neurodegeneration

  2024cites this paper
• The Evolution of Iron-Related Comorbidities and Hospitalization in Patients with Hemochromatosis: An Analysis of the Nationwide Inpatient Sample

  2023cites this paper
• HFE genotypes, haemochromatosis diagnosis status and clinical penetrance to age 80 in the UK Biobank community cohort

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  2023cites this paper
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  2023cites this paper
• Response to: "Response to Pan et al.'s 'Non-melanoma skin cancer in patients with hereditary hemochromatosis: a case-control study.'".

  2023cites this paper
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  2023cites this paper
• Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening

  2022cites this paper
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  2022cites this paper
• Risk of Hepatocellular Carcinoma in Patients with Various HFE Genotypes

  2022cites this paper
• EASL Clinical Practice Guidelines on haemochromatosis.

  2022cites this paper
• Sex Differences in Cardiomyopathy

  2022cites this paper
• Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues

  2022cites this paper
• Ethnic Differences in Iron Status.

  2021cites this paper
• Hemochromatosis

  2021cites this paper
• Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis

  2021cites this paper
• HFE H63D limits nigral vulnerability to paraquat in agricultural workers.

  2021cites this paper
• Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents

  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020influential citation
• African iron overload.

  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
• Interventions for hereditary haemochromatosis: an attempted network meta-analysis.

  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017influential citation
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  2017cites this paper
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  2017influential citation
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2016cites this paper
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  2015cites this paper
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  2015cites this paper
• Treatments for hereditary haemochromatosis: a network meta‐analysis

  2015cites this paper
• Food and nutrition policy: A biological anthropologist's experiences from an academic platform

  2015influential citation
• Examining the clinical use of hemochromatosis genetic testing.

  2015cites this paper
• Evidence for the Influence of the Iron Regulatory MHC Class I Molecule HFE on Tumor Progression in Experimental Models and Clinical Populations

  2014cites this paper
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  2014cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013cites this paper
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  2013influential citation
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  2012cites this paper
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  2012cites this paper
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  2012cites this paper
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  2012cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
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  2011cites this paper
• A comparison of self‐reported and record‐linked blood donation history in an Australian cohort

  2011cites this paper
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  2011cites this paper