(Q34483947)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Isabel Alonso

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

3

Dorine W Swinkels

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

author name string

Pierre Brissot

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Heinz Zoller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Outi Kamarainen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Simon Patton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Michael Morris

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Steve Keeney

9

1 reference

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18 February 2020

publication date

8 July 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

18 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

page(s)

479-495

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International

18 February 2020

copyright license

start time

8 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Iron overload is rare in patients homozygous for the H63D mutation

6 July 2018

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Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

6 July 2018

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Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

6 July 2018

1 reference

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The benefits and harms of breast cancer screening: an independent review

6 July 2018

1 reference

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Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload

6 July 2018

1 reference

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Iron overload in human disease

6 July 2018

1 reference

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The number of women who would need to be screened regularly by mammography to prevent one death from breast cancer

6 July 2018

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Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study

6 July 2018

1 reference

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Iron disorders of genetic origin: a changing world

6 July 2018

1 reference

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Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

6 July 2018

1 reference

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A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation.

6 July 2018

1 reference

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Diagnosis and management of hereditary haemochromatosis

6 July 2018

1 reference

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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

6 July 2018

1 reference

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Approaches to quality management and accreditation in a genetic testing laboratory

6 July 2018

1 reference

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Screening for breast cancer--balancing the debate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

How I treat hemochromatosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study

6 July 2018

1 reference

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Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

6 July 2018

1 reference

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The natural history of untreated HFE-related hemochromatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

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HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: the HEmochromatosis FAmily Study

6 July 2018

1 reference

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Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population

6 July 2018

1 reference

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Iron-overload-related disease in HFE hereditary hemochromatosis

6 July 2018

1 reference

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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay

6 July 2018

1 reference

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Screening for hemochromatosis by measuring ferritin levels: a more effective approach

6 July 2018

1 reference

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Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

6 July 2018

1 reference

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Genetic background of primary iron overload syndromes in Japan

6 July 2018

1 reference

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

6 July 2018

1 reference

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Liver diseases in the hemochromatosis and iron overload screening study.

6 July 2018

1 reference

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Prognostic factors and survival in patients with hereditary hemochromatosis and cirrhosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Hemochromatosis: genetic testing and clinical practice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Juvenile hemochromatosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Diagnosis of hemochromatosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Genetic hemochromatosis, a Celtic disease: is it now time for population screening?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Contribution of different HFE genotypes to iron overload disease: a pooled analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Hemochromatosis in Ireland and HFE

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Global prevalence of putative haemochromatosis mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Mutation analysis in hereditary hemochromatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Haemochromatosis and HLA-H.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Rare types of genetic hemochromatosis.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Iron overload in the Asian community.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

EASL clinical practice guidelines for HFE hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

HFE genotype in patients with hemochromatosis and other liver diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence and clinical significance of HFE gene mutations in patients with iron overload.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Frequency of the HFE gene mutations in five Italian populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence of HFE mutations in California newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Hemochromatosis mutations in the general population: iron overload progression rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

The irony of herbal hepatitis: Ma-Huang-induced hepatotoxicity associated with compound heterozygosity for hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Liver pathology in compound heterozygous patients for hemochromatosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

ASP--a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Phenotype variation in C282Y homozygotes for the hemochromatosis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Increased mortality risk in patients with phenotypic hereditary hemochromatosis but not in their first-degree relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

WHO European review of social determinants of health and the health divide

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Family-based detection for hereditary hemochromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Serum Iron Parameters, HFE C282Y Genotype, and Cognitive Performance in Older Adults: Results From the FACIT Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

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/10.1038%2FEJHG.2015.128

The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Extrinsic factors modifying expressivity of the HFE variant C282Y, H63D, S65C phenotypes in 1,294 Danish men.

21 January 2018

1 reference

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[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France]

21 January 2018

1 reference

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Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929861

The Clinical Expression of Hemochromatosis in Oslo, Norway: Excessive Oral Iron Intake May Lead to Secondary Hemochromatosis Even in HFE C282Y Mutation Negative Subjects

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)

21 January 2018

1 reference

12 December 2020

Pathology of hepatic iron overload

1 reference

12 December 2020

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis

1 reference

12 December 2020

Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people

1 reference

12 December 2020

Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients

1 reference

12 December 2020

Frequency of the hemochromatosis gene (HFE) 282C-->Y, 63H-->D, and 65S-->C mutations in a general Mediterranean population from Tarragona, Spain

1 reference

12 December 2020

Comprehensive hereditary hemochromatosis genotyping

1 reference

12 December 2020

Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic

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12 December 2020

A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium

1 reference

12 December 2020

Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis

1 reference

12 December 2020

Importance of establishing appropriate local reference values for the screening of hemochromatosis: a study of three different control populations and 136 hemochromatosis family members. Hemochromatosis Clinical and Research Group

1 reference

12 December 2020

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

1 reference

12 December 2020

Health check-ups and family screening allow detection of hereditary hemochromatosis with less advanced liver fibrosis and survival comparable with the general population

1 reference

12 December 2020

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis

1 reference

12 December 2020

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria

1 reference

12 December 2020

Phenotypic and clinical manifestations of compound heterozygous genetic haemochromatosis (CHGH): a non-invasive approach to clinical management

1 reference

12 December 2020

Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles

1 reference

12 December 2020

Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain

1 reference

12 December 2020

Haemochromatosis and HLA-H

1 reference

12 December 2020

High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis

1 reference

12 December 2020

An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)

1 reference

12 December 2020

Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemochromatosis Genotypes and Risk of Iron Overload—A Meta-Analysis

1 reference

12 December 2020

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis

1 reference

12 December 2020

No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study

1 reference

12 December 2020

Hemochromatosis case definition: out of focus?

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12 December 2020

Diagnosis and current treatments for primary iron overload

1 reference

12 December 2020

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12 December 2020

Population screening for hemochromatosis by PCR using sequence-specific primers

1 reference

12 December 2020

Heterogeneity of hemochromatosis in Italy

1 reference

12 December 2020

Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors

1 reference

12 December 2020

Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing

1 reference

12 December 2020

Morbidity and mortality in first-degree relatives of C282Y homozygous probands with clinically detected haemochromatosis compared with the general population: the HEmochromatosis FAmily Study (HEFAS)

1 reference

12 December 2020

HFEmutations in patients with hereditary haemochromatosis in Sweden

1 reference

12 December 2020

Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients

1 reference

12 December 2020

Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis

1 reference

12 December 2020

Risk of disease in siblings of patients with hereditary hemochromatosis

1 reference

12 December 2020

Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity

1 reference

12 December 2020

HFE mutations, iron deficiency and overload in 10,500 blood donors

1 reference

12 December 2020

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls

1 reference

12 December 2020

A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England

1 reference

12 December 2020

Hemochromatosis: new insights in pathogenesis and diagnosis following the discovery of the gene

1 reference

12 December 2020

Hepatic iron loading in patients with compound heterozygous HFE mutations

1 reference

12 December 2020

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls

1 reference

12 December 2020

Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives

1 reference

12 December 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2015.128

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2015.128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

release_2f3vgetnnrh7tngptoesqy22l4

18 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2f3vgetnnrh7tngptoesqy22l4

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26153218%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

PubMed publication ID

26153218

1 reference