Clinical penetrance of C282Y homozygous HFE hemochromatosis (Q37810066)

23 August 2017

Clinical penetrance of C282Y homozygous HFE hemochromatosis (English)

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23 August 2017

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author name string

Enrico Rossi

series ordinal

1

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PubMed ID

21082925

23 August 2017

Gary P Jeffrey

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3

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23 August 2017

1 December 2008

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Expert Review of Hematology

23 August 2017

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23 August 2017

1

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23 August 2017

2

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23 August 2017

205-216

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

23 August 2017

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Hereditary hemochromatosis--a new look at an old disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Hereditary haemochromatosis: diagnosis and management in the gene era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Iron-overload-related disease in HFE hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of clinical and immunological data from 70 C282Y homozygous subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Natural history of the C282Y homozygote for the hemochromatosis gene (HFE) with a normal serum ferritin level.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Hemochromatosis mutations in the general population: iron overload progression rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F17474086.1.2.205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Noninvasive measurement of iron: report of an NIDDK workshop

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Increase in glycosylated and nonglycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Hepcidin is down-regulated in alcoholic liver injury: implications for the pathogenesis of alcoholic liver disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins

21 January 2018

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https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

21 January 2018

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https://api.crossref.org/works/10.1586%2F17474086.1.2.205

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection

21 January 2018

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https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Steatosis is a cofactor in liver injury in hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Iron depletion by phlebotomy improves insulin resistance in patients with nonalcoholic fatty liver disease and hyperferritinemia: evidence from a case-control study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Progression of liver fibrosis in women infected with hepatitis C: long-term benefit of estrogen exposure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Impact of oestrogens on the progression of liver disease

21 January 2018

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https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis

21 January 2018

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https://api.crossref.org/works/10.1586%2F17474086.1.2.205

A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

Tumour Necrosis Factor Alpha and Its Promoter Polymorphisms' Role in the Phenotypic Expression of Hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F17474086.1.2.205

21 January 2018

Identifiers

DOI

10.1586/17474086.1.2.205

1 reference

23 August 2017

1 reference

PubMed ID

21082925