Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants. (Q34750501)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Patricia Aguilar-Martinez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Bernard Grandchamp

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Séverine Cunat

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Estelle Cadet

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

François Blanc

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Marlène Nourrit

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Kaiss Lassoued

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Jacques Rochette

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

12 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

507-514

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Iron-overload-related disease in HFE hereditary hemochromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Current approaches to the management of hemochromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Recent advances in understanding haemochromatosis: a transition state

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

EASL International Consensus Conference on Haemochromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Insulin resistance-associated hepatic iron overload.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Clinical and biochemical abnormalities in people heterozygous for hemochromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Mutation analysis in hereditary hemochromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

VMD: visual molecular dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Correlation between stability of a protein and its dipeptide composition: a novel approach for predicting in vivo stability of a protein from its primary sequence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

EASL clinical practice guidelines for HFE hemochromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Screening for C282Y homozygosity in a Norwegian population (HUNT2): The sensitivity and specificity of transferrin saturation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Steatosis is a cofactor in liver injury in hemochromatosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Non-invasive assessment of hepatic iron stores by MRI.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

HFE genotype in patients with hemochromatosis and other liver diseases.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069226

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

26 October 2018

1 reference

12 December 2020

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis

1 reference

12 December 2020

A previously undescribed nonsense mutation of the HFE gene

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

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

1 reference

12 December 2020

Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene

1 reference

12 December 2020

A very rare association of three mutations of the HFE gene for hemochromatosis

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

Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?

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

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

1 reference

12 December 2020

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote

1 reference

12 December 2020

The transferrin receptor binding site on HFE, the class I MHC-related protein mutated in hereditary hemochromatosis

1 reference

12 December 2020

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

1 reference

12 December 2020

Global sequencing approach for characterizing the molecular background of hereditary iron disorders

1 reference

12 December 2020

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes

1 reference

12 December 2020

10.3324/HAEMATOL.2010.029751

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21228038%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

21228038

1 reference