Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
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Statins for children with familial hypercholesterolemiaCardiovascular risk stratification in familial hypercholesterolaemiaThe genetics and screening of familial hypercholesterolaemiaImproving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemiaExome sequencing in suspected monogenic dyslipidemias.Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.The UK Paediatric Familial Hypercholesterolaemia Register: preliminary dataGenetic Architecture of Familial Hypercholesterolaemia.Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe HypercholesterolemiaA genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemiaScreening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)Familial hypercholesterolemia: A reviewTargeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyA review on the traditional Chinese medicinal herbs and formulae with hypolipidemic effect.Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutationsHomozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.Familial hypercholesterolemia: developments in diagnosis and treatmentThe polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.Genetics of CHD in 2016: Common and rare genetic variants and risk of CHD.Genetics of coronary artery disease: discovery, biology and clinical translation.Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.Using genetic prediction from known complex disease Loci to guide the design of next-generation sequencing experiments.Would raising the total cholesterol diagnostic cut-off from 7.5 mmol/L to 9.3 mmol/L improve detection rate of patients with monogenic familial hypercholesterolaemia?Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian populationThe Contribution of GWAS Loci in Familial Dyslipidemias.Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.New Approaches in Detection and Treatment of Familial HypercholesterolemiaIdentification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD.The distribution and characteristics of LDL receptor mutations in China: A systematic reviewCost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarctionPremature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutationsThe genetic spectrum of familial hypercholesterolemia in south-eastern Poland.Improving detection of familial hypercholesterolaemia in primary care using electronic audit and nurse-led clinics.Effect of SORT1, APOB and APOE polymorphisms on LDL-C and coronary heart disease in Pakistani subjects and their comparison with Northwick Park Heart Study II.Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
P2860
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P2860
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Use of low-density lipoprotein ...... olaemia: a case-control study.
@en
Use of low-density lipoprotein ...... olaemia: a case-control study.
@nl
type
label
Use of low-density lipoprotein ...... olaemia: a case-control study.
@en
Use of low-density lipoprotein ...... olaemia: a case-control study.
@nl
prefLabel
Use of low-density lipoprotein ...... olaemia: a case-control study.
@en
Use of low-density lipoprotein ...... olaemia: a case-control study.
@nl
P2093
P50
P1433
P1476
Use of low-density lipoprotein ...... olaemia: a case-control study.
@en
P2093
Fotios Drenos
H Andrew W Neil
Jackie A Cooper
Olivier S Descamps
Philip Howard
Ros Whittall
Seamus C Harrison
P304
P356
10.1016/S0140-6736(12)62127-8
P407
P50
P577
2013-02-22T00:00:00Z