A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria (Q77338372)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

P Brissot

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

R Moirand

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

A M Jouanolle

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

J Y Le Gall

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

Y Deugnier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

V David

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

publication date

1 April 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

published in

Journal of Hepatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

page(s)

588-593

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

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

4 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Mutation analysis in hereditary hemochromatosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Haemochromatosis and HLA-H

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Haemochromatosis and HLA-H.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Measurement of liver-iron concentration in needle-biopsy specimens

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Hemochromatosis: diagnosis and quantification of liver iron with gradient-echo MR imaging

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Screening for hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Twenty-four hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Variability in hepatic iron concentration measurement from needle-biopsy specimens

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Hemosiderosis in cirrhosis: a study of 447 native livers

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

A reappraisal of hepatic siderosis in patients with end-stage cirrhosis: practical implications for the diagnosis of hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Utility of hepatic iron index in American patients with hereditary hemochromatosis: a multicenter study

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Evaluation of the hepatic iron index as a diagnostic criterion for genetic hemochromatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-8278%2899%2980188-3

7 January 2021

10.1016/S0168-8278(99)80188-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10207799%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference