(Q35363883)

7 August 2017

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

1 reference

7 August 2017

1 reference

Aguilar-Martinez P

1

1 reference

7 August 2017

Bismuth M

2

1 reference

7 August 2017

Picot MC

3

1 reference

7 August 2017

Thelcide C

4

1 reference

7 August 2017

Pageaux GP

5

1 reference

7 August 2017

Blanc F

6

1 reference

7 August 2017

Blanc P

7

1 reference

7 August 2017

Schved JF

8

1 reference

7 August 2017

Larrey D

9

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 2001

1 reference

7 August 2017

1 reference

7 August 2017

48

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7 August 2017

6

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7 August 2017

836-842

1 reference

EASL International Consensus Conference on Haemochromatosis

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Genes that modify the hemochromatosis phenotype in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Population screening for hemochromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Multicentric origin of hemochromatosis gene (HFE) mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Hemochromatosis: advances in molecular genetics and clinical diagnosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Global prevalence of putative haemochromatosis mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Haemochromatosis and HLA-H.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

H63D is an haemochromatosis associated allele

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

The significance of the 187G (H63D) mutation in hemochromatosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

A new syndrome of liver iron overload with normal transferrin saturation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

Isolated hyperferritinemia with normal transferrin saturation and dysmetabolism, in the absence of the two known mutations in the HFE gene of hereditary hemochromatosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728323

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

15 November 2018

1 reference

12 December 2020

Interaction between haemochromatosis and transferrin receptor genes in multiple myeloma

1 reference

12 December 2020

Polymorphisms in the HFE gene

1 reference

12 December 2020

Transferrin receptor mutation analysis in hereditary hemochromatosis patients

1 reference

12 December 2020

The dysmetabolic iron overload syndrome is clinically and genetically distinct from HFE-related genetic hemochromatosis

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 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

Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders

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

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

1 reference

12 December 2020

Phenotype-genotype correlation in haemochromatosis subjects

1 reference

12 December 2020

Haplotype analysis of the HFE gene: implications for the origins of hemochromatosis related mutations

1 reference

12 December 2020

HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France

1 reference

12 December 2020

Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma

1 reference

12 December 2020

Long-term survival in patients with hereditary hemochromatosis

1 reference

12 December 2020

Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations

1 reference

12 December 2020

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

1 reference

12 December 2020

Simple and rapid detection of the newly described mutations in the HLA-H gene

1 reference

12 December 2020

Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda

1 reference

12 December 2020

Haemochromatosis gene mutation in hepatocellular cancer

1 reference

12 December 2020

New DNA polymorphisms define ethnically distinct haplotypes in the human transferrin receptor gene

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.48.6.836

1 reference

7 August 2017

1 reference

7 August 2017

1 reference