Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data (Q24814752)

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12 January 2020

title

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data (English)

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12 January 2020

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2

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12 January 2020

author name string

Virginie Scotet

1

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12 January 2020

Marie-Christine Mérour

3

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12 January 2020

Anne-Yvonne Mercier

4

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12 January 2020

Brigitte Chanu

5

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12 January 2020

Chandran Ka

6

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12 January 2020

Catherine Mura

7

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12 January 2020

Jean-Baptiste Nousbaum

8

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12 January 2020

Claude Férec

9

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12 January 2020

language of work or name

English

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publication date

1 June 2005

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12 January 2020

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12 January 2020

volume

6

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12 January 2020

issue

1

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page(s)

24

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https://scigraph.springernature.com/pub.10.1186/1471-2350-6-24

12 January 2020

exact match

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

The penetrance of hereditary hemochromatosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Is genetic screening for hemochromatosis worthwhile?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Hemochromatosis due to mutations in transferrin receptor 2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Genetics of haemochromatosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Genomic medicine--a primer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Hereditary hemochromatosis since discovery of the HFE gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

EASL International Consensus Conference on Haemochromatosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Hereditary hemochromatosis: impact of molecular and iron-based testing on the diagnosis, treatment, and prevention of a common, chronic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Classification and diagnosis of iron overload

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA as

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Clinical features of genetic hemochromatosis in women compared with men.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Epidemiology, clinical spectrum and prognosis of hemochromatosis.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

Population screening for haemochromatosis: a unifying analysis of published intervention trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

Prevalence of hereditary hemochromatosis in 16031 primary care patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

Hereditary hemochromatosis: gene discovery and its implications for population-based screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

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/10.1186%2F1471-2350-6-24

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

DNA testing for haemochromatosis: diagnostic, predictive and screening implications

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180708

28 November 2018

1 reference

12 December 2020

Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands

1 reference

12 December 2020

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

1 reference

12 December 2020

Screening for hemochromatosis

1 reference

12 December 2020

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

1 reference

12 December 2020

Penetrance in hereditary hemochromatosis

1 reference

12 December 2020

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

1 reference

12 December 2020

Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

1 reference

12 December 2020

Clinical presentation of hemochromatosis: a changing scene

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

Phenotype-genotype correlation in haemochromatosis subjects

1 reference

12 December 2020

Diagnosis of hemochromatosis

1 reference

12 December 2020

Screening for hemochromatosis in primary care settings

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

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-24

7 January 2021

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Identifiers

DOI

10.1186/1471-2350-6-24

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Dimensions Publication ID

12 January 2020

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12 January 2020

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