(Q35595107)

English

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

scientific article published on November 2002

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

author name string

P Holmström

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

J Marmur

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

G Eggertsen

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

M Gåfvels

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

language of work or name

0 references

publication date

1 November 2002

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

51

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

723-730

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

Global prevalence of putative haemochromatosis mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

Haemochromatosis and HLA-H.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

Hepatic blood flow: morphologic aspects and physiologic regulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

12 July 2018

The S65C mutation in Spain. Implications for iron overload screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

26 September 2018

Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

26 September 2018

Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773427

26 September 2018

Long-term survival in patients with hereditary hemochromatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12377814

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of hemochromatosis in Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12377814

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFEmutations in patients with hereditary haemochromatosis in Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/12377814

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12377814

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12377814

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors

1 reference

https://pubmed.ncbi.nlm.nih.gov/12377814

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/GUT.51.5.723

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12377814%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35595107&oldid=1526064700"