Search Results - "HUMPHRIES, Steve"
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Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank—Brief Report
Published in Arteriosclerosis, thrombosis, and vascular biology (01-09-2023)“…BACKGROUNDFamilial hypercholesterolemia (FH) is a monogenic disease that causes high low-density lipoprotein cholesterol (LDL-C) and higher risk of premature…”
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Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank
Published in Arteriosclerosis, thrombosis, and vascular biology (06-07-2023)“…Familial hypercholesterolemia (FH) is a monogenic disease that causes high low-density lipoprotein cholesterol (LDL-C) and higher risk of premature coronary…”
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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Published in PLoS genetics (03-04-2017)“…Recent advances in highly multiplexed immunoassays have allowed systematic large-scale measurement of hundreds of plasma proteins in large cohort studies. In…”
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Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Published in Current atherosclerosis reports (01-12-2023)“…Purpose of Review The UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited…”
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Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia
Published in Atherosclerosis (01-10-2018)“…Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a…”
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The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data
Published in Archives of disease in childhood (01-03-2017)“…BackgroundThe National Institute for Health and Care Excellence 2008 guidelines on the treatment and management of familial hypercholesterolaemia (FH)…”
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Genetic testing for familial hypercholesterolemia—past, present, and future
Published in Journal of lipid research (01-01-2021)“…In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as…”
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Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK
Published in European heart journal (14-06-2017)“…Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature…”
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Common Variants for Cardiovascular Disease: Clinical Utility Confirmed
Published in Circulation (New York, N.Y.) (30-05-2017)Get full text
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Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families
Published in Current opinion in lipidology (01-12-2024)“…Universal Screening programmes to identify subjects with familial hypercholesterolaemia (FH) have been the subject of much recent interest. However, any…”
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Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
Published in The Lancet (British edition) (13-04-2013)“…Summary Background Familial hypercholesterolaemia is a common autosomal-dominant disorder caused by mutations in three known genes. DNA-based cascade testing…”
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Statins for children with familial hypercholesterolemia
Published in Cochrane database of systematic reviews (07-11-2019)“…Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers,…”
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Cardiovascular risk stratification in familial hypercholesterolaemia
Published in Heart (British Cardiac Society) (01-07-2016)“…Familial hypercholesterolaemia (FH) is a common autosomal-dominant disorder in most European countries. Patients with FH are characterised by a raised level of…”
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Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis
Published in Atherosclerosis (01-08-2018)“…Familial hypercholesterolaemia (FH) is widely underdiagnosed. Cascade testing (CT) of relatives has been shown to be feasible, acceptable and cost-effective in…”
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Genetic Architecture of Familial Hypercholesterolaemia
Published in Current cardiology reports (01-05-2017)“…Purpose of Review Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a…”
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Polygenic Hypercholesterolemia and Cardiovascular Disease Risk
Published in Current cardiology reports (01-06-2019)“…Purpose of the Review I dentification of loci and common single-nucleotide polymorphisms (SNPs) that have modest effects on plasma lipids have been used to…”
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Identification 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
Published in PloS one (01-12-2016)“…The Low-Density Lipoprotein Receptor (LDLR) SNP rs6511720 (G>T), located in intron-1 of the gene, has been identified in genome-wide association studies (GWAS)…”
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Management of familial hypercholesterolaemia in childhood
Published in Current opinion in pediatrics (01-10-2020)“…All guidelines for the management of heterozygous familial hypercholesterolaemia in children and young people recommend statins to lower LDL-cholesterol…”
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Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)
Published in Atherosclerosis (01-02-2015)“…Abstract Objective Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant disorder. The vast majority of affected individuals remain…”
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The UCL low-density lipoprotein receptor gene variant database: pathogenicity update
Published in Journal of medical genetics (01-04-2017)“…Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor ( ) gene. Predicting whether novel…”
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