(Q57316565)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236128%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project (English)

1 reference

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20 January 2020

0 references

0 references

6

1 reference

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20 January 2020

Stephen E Humphries

19

1 reference

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20 January 2020

author name string

A Taylor

1

1 reference

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20 January 2020

D Wang

2

1 reference

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20 January 2020

K Patel

3

1 reference

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20 January 2020

R Whittall

4

1 reference

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20 January 2020

G Wood

5

1 reference

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20 January 2020

S Fairgrieve

8

1 reference

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20 January 2020

D Nair

9

1 reference

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20 January 2020

M Barbir

10

1 reference

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20 January 2020

S Egan

12

1 reference

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20 January 2020

R Everdale

13

1 reference

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20 January 2020

Y Lolin

14

1 reference

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20 January 2020

E Hughes

15

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20 January 2020

G Norbury

18

1 reference

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20 January 2020

R D G Neely

7

1 reference

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20 January 2020

J L Jones

11

1 reference

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20 January 2020

J A Cooper

16

1 reference

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20 January 2020

S G Hadfield

17

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20 January 2020

publication date

13 March 2010

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20 January 2020

1 reference

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20 January 2020

volume

77

1 reference

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20 January 2020

issue

6

1 reference

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20 January 2020

page(s)

572-580

1 reference

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A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Census of clinics providing specialist lipid services in the United Kingdom

21 January 2018

1 reference

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Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group

21 January 2018

1 reference

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Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

21 January 2018

1 reference

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Familial hypercholesterolaemia: summary of NICE guidance

21 January 2018

1 reference

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Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program

21 January 2018

1 reference

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Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects

21 January 2018

1 reference

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Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia

21 January 2018

1 reference

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Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes

21 January 2018

1 reference

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Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Mechanisms of disease: genetic causes of familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

21 January 2018

1 reference

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Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Common variants at 30 loci contribute to polygenic dyslipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

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Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01356.X

10.1111/J.1399-0004.2009.01356.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236128%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference