(Q38644627)

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Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 September 2017

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Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

Scott D. Grosse

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Scott D Grosse

1

0 references

object named as

Katrina J Allen

4

0 references

author name string

Lyle C Gurrin

2

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

Nadine A Bertalli

3

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

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0 references

publication date

3 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model.

1 reference

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31 August 2018

Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

1 reference

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31 August 2018

Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

1 reference

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31 August 2018

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

1 reference

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31 August 2018

Clinical Genomics: From Pathogenicity Claims to Quantitative Risk Estimates

1 reference

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31 August 2018

The promise and peril of genomic screening in the general population

1 reference

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31 August 2018

Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron)

1 reference

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31 August 2018

The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates

1 reference

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31 August 2018

Economic evaluation of genetic screening for Lynch syndrome in Germany.

1 reference

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31 August 2018

Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome

1 reference

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31 August 2018

Hemochromatosis: the new blood donor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Recommendations for returning genomic incidental findings? We need to talk!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Cancer risk in HFE C282Y homozygotes: results from the HUNT 2 study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Iron overload: what is the role of public health?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Clinical penetrance of C282Y homozygous HFE hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

How I treat hemochromatosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

The natural history of untreated HFE-related hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Population screening for genetic disorders in the 21st century: evidence, economics, and ethics

1 reference

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31 August 2018

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study

1 reference

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31 August 2018

Iron-overload-related disease in HFE hereditary hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Penetrance of the C28Y/C282Y genotype of the HFE gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Screening for hemochromatosis: recommendation statement

1 reference

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31 August 2018

Liver diseases in the hemochromatosis and iron overload screening study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Prognostic factors and survival in patients with hereditary hemochromatosis and cirrhosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Screening for hemochromatosis in asymptomatic subjects with or without a family history

1 reference

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31 August 2018

Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians

1 reference

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Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians

1 reference

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31 August 2018

Hemochromatosis and iron-overload screening in a racially diverse population.

1 reference

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31 August 2018

Hemochromatosis mutations in the general population: iron overload progression rate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients.

1 reference

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31 August 2018

A population-based study of the clinical expression of the hemochromatosis gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

HFE genotype in patients with hemochromatosis and other liver diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Prevalence of hereditary hemochromatosis in 16031 primary care patients

1 reference

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31 August 2018

The significance of haemochromatosis gene mutations in the general population: implications for screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5797490

31 August 2018

Long term results of venesection therapy in idiopathic haemochromatosis

1 reference

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31 August 2018

Neighborhood environment and physical activity among youth a review.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

21 January 2018

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

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Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

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Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

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Prognostic factors for hepatocellular carcinoma in genetic hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

inferred from DOI database lookup

Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

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Re: "The emergence of translational epidemiology: from scientific discovery to population health impact"

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7 January 2021

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Chronic leukocytosis

1 reference

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7 January 2021

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Long-term survival in patients with hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

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Hereditary hemochromatosis: time for targeted screening

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

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HFE-associated hereditary hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

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The cost-effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

inferred from DOI database lookup

Disease-related conditions in relatives of patients with hemochromatosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

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Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

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Benefit of population-based screening for phenotypic hemochromatosis in young men

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

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Haemochromatosis gene C282Y homozygotes in an elderly male population

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.121

7 January 2021

based on heuristic

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Hereditary hemochromatosis

1 reference

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Identifiers

10.1038/GIM.2017.121

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 September 2017

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