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Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemiaUse of targeted exome sequencing as a diagnostic tool for Familial HypercholesterolaemiaGenetic Architecture of Familial Hypercholesterolaemia.Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)The UCL low-density lipoprotein receptor gene variant database: pathogenicity updateWhole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutationsA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.The UK10K project identifies rare variants in health and diseaseWould 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?The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.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.The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.SEnsitivity and specificity of biochemical screening for familial hypercholesterolaemia in childhood: avon longitudinal study of parents and children (ALSPAC).Molecular genetics of familial hypercholesterolemia in Israel-revisited.Mutation detection in Croatian patients with familial hypercholesterolemia.Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemiaApplicability of the low-density lipoprotein cholesterol gene score in a South European populationLipoprotein(a) level is higher inpatients with familial hypercholesterolaemia than in normal healthy subjects, contribution of variants in the LPA geneEfficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in PolandComparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countriesChild-Parent Familial Hypercholesterolemia Screening in Primary Care
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marta Futema
@ast
Marta Futema
@en
Marta Futema
@es
Marta Futema
@nl
type
label
Marta Futema
@ast
Marta Futema
@en
Marta Futema
@es
Marta Futema
@nl
prefLabel
Marta Futema
@ast
Marta Futema
@en
Marta Futema
@es
Marta Futema
@nl
P106
P21
P31
P496
0000-0002-2120-2088