EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). (Q34483947)

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18 February 2020

title

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

1 reference

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18 February 2020

1 reference

1

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18 February 2020

Isabel Alonso

7

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18 February 2020

3

Dorine W Swinkels

1 reference

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18 February 2020

author name string

Pierre Brissot

2

1 reference

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18 February 2020

Heinz Zoller

4

1 reference

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18 February 2020

Outi Kamarainen

5

1 reference

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18 February 2020

Simon Patton

6

1 reference

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18 February 2020

Michael Morris

8

1 reference

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18 February 2020

Steve Keeney

9

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18 February 2020

publication date

8 July 2015

1 reference

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European Journal of Human Genetics

18 February 2020

published in

1 reference

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18 February 2020

volume

24

1 reference

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18 February 2020

issue

4

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18 February 2020

page(s)

479-495

1 reference

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Creative Commons Attribution-NonCommercial-NoDerivs 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

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.128

0 references

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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

21 January 2018

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EASL clinical practice guidelines for HFE hemochromatosis

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HFE genotype in patients with hemochromatosis and other liver diseases.

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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Frequency of the HFE gene mutations in five Italian populations.

21 January 2018

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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

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Prevalence of HFE mutations in California newborns

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Liver pathology in compound heterozygous patients for hemochromatosis mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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Phenotype variation in C282Y homozygotes for the hemochromatosis gene.

21 January 2018

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

21 January 2018

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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

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

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

21 January 2018

1 reference

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

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

1 reference

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?

1 reference

12 December 2020

Diagnosis and current treatments for primary iron overload

1 reference

12 December 2020

1 reference

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

1 reference