(Q36983486)

English

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

scientific article published on 18 April 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

hypercholesterolemia

0 references

object named as

Marta Futema

1

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object named as

Fredrik Karpe

8

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Stephen E Humphries

object named as

Steve E Humphries

11

0 references

author name string

Ros A Whittall

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Amy Kiley

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Louisa K Steel

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Jackie A Cooper

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Ebele Badmus

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Sarah E Leigh

7

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

H Andrew W Neil

9

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Simon Broome Register Group

10

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

publication date

18 April 2013

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Atherosclerosis

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

229

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

161-168

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C with PCSK9 In

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

ESC/EAS Guidelines for the management of dyslipidaemias The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Census of clinics providing specialist lipid services in the United Kingdom

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

LDL-receptor mutations in Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

29 September 2017

Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

27 June 2018

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 September 2018

Familial hypercholesterolaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 December 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 December 2018

Familial hypercholesterolaemia: summary of NICE guidance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3701838

4 December 2018

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23669246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/23669246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23669246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.ATHEROSCLEROSIS.2013.04.011

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

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