Targeted screening for genetic haemochromatosis: a combined phenotype/genotype approach (Q35769577)

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20 January 2020

title

Targeted screening for genetic haemochromatosis: a combined phenotype/genotype approach (English)

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20 January 2020

2

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20 January 2020

author name string

M Bhavnani

1

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20 January 2020

J Marples

3

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20 January 2020

K Pendry

4

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20 January 2020

M Worwood

5

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20 January 2020

language of work or name

English

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publication date

1 May 2006

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Journal of Clinical Pathology

20 January 2020

published in

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20 January 2020

volume

59

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20 January 2020

issue

5

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20 January 2020

page(s)

501-504

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Hemochromatosis and iron-overload screening in a racially diverse population.

20 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=1860286

Inherited iron loading: genetic testing in diagnosis and management

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

Genetics of 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=1860286

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

HFE Mutations as risk factors in disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

EASL International Consensus Conference on 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=1860286

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of 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=1860286

Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

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=1860286

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=1860286

Long-term survival analysis in hereditary 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=1860286

Routine transferrin saturation measurement in liver clinic patients increases detection of 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=1860286

Prevalence of elevated serum transferrin saturation in adults in the United States.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1860286

Long-term survival in patients with hereditary hemochromatosis

15 November 2018

1 reference

12 December 2020

Rapid genetic screening for haemochromatosis using heteroduplex technology

1 reference

12 December 2020

HFE mutations, iron deficiency and overload in 10,500 blood donors

1 reference

12 December 2020

Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons

1 reference

12 December 2020

Identifiers

DOI

10.1136/JCP.2005.031898

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16644885%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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20 January 2020

1 reference