Clinical penetrance of C282Y homozygous HFE haemochromatosis (Q35819245)

10 August 2017

1 reference

title

Clinical penetrance of C282Y homozygous HFE haemochromatosis (English)

1 reference

10 August 2017

1 reference

Enrico Rossi

1

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PMCID

1880832

10 August 2017

Gary P Jeffrey

series ordinal

2

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10 August 2017

1 August 2004

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Clinical Biochemist Reviews

10 August 2017

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10 August 2017

25

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10 August 2017

3

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10 August 2017

183-190

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

EASL International Consensus Conference on Haemochromatosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Hemochromatosis mutations in the general population: iron overload progression rate

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1880832

Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression

24 September 2018

1 reference

12 December 2020

Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis

1 reference

12 December 2020

Iron absorption in idiopathic haemochromatosis and its measurement using a whole-body counter

1 reference

12 December 2020

Tumor necrosis factor alpha promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation

1 reference

12 December 2020

Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotyping as a diagnostic aid in genetic haemochromatosis

1 reference

12 December 2020

The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients

1 reference

12 December 2020

Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis

1 reference

12 December 2020

Seeking candidate mutations that affect iron homeostasis

1 reference

12 December 2020

1 reference

12 December 2020

Food iron absorption in idiopathic hemochromatosis

1 reference

12 December 2020

Clinical haemochromatosis in HFE mutation carriers

1 reference

12 December 2020

Hepatic iron loading in patients with compound heterozygous HFE mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

PMCID

1880832

1 reference

10 August 2017

1 reference

PMCID

1880832