103 results on '"Humphries, S.E."'
Search Results
2. Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population
3. Modelling a two-stage screen for autosomal dominant Familial Hypercholesterolaemia (FH) in UK Biobank
4. Haplotype and genotype effects of the F7 gene on circulating factor VII, coagulation activation markers and incident coronary heart disease in UK men
5. Association between the rs4880 superoxide dismutase 2 (C>T) gene variant and coronary heart disease in diabetes mellitus
6. How many individuals with Familial Hypercholesterolaemia (FH) need to be identified to achieve the NHS 2019 Long Term Plan ambition?
7. Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank
8. How many FH genetic tests were performed by the UK Genetic Laboratory Hubs in 2022?
9. Association between periodontitis and common variants in the promoter of the interleukin-6 gene
10. Identification of a novel regulatory region in the interleukin-6 gene promoter
11. Relationship between markers of activated coagulation, their correlation with inflammation, and association with coronary heart disease (NPHSII)
12. Candidate Gene Association Studies in Abdominal Aortic Aneurysm Disease: A Review and Meta-Analysis
13. Lp-PLA2 activity and PLA2G7 A379V genotype in patients with diabetes mellitus
14. Adiponectin and its gene variants as risk factors for insulin resistance, the metabolic syndrome and cardiovascular disease
15. EPCR Ser219Gly: Elevated sEPCR, prothrombin F1+2, risk for coronary heart disease, and increased sEPCR shedding in vitro
16. Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on the risk of myocardial infarction: the HIFMECH study
17. Non-coronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: a prospective registry study
18. How should high cholesterol, mutation negative children, identified through the child-parent screening project be managed?
19. How many homozygous Familial Hypercholesterolaemia (FH) patients are there likely to be in the UK? : The FH phenotype caused by the APOB p.(Arg3527Trp) variant in a South Asian family
20. The potential cost-effectiveness of screening algorithms for familial hypercholesterolemia in primary care
21. Cardiovascular disease morbidity is associated with social deprivation in subjects with familial hypercholesterolaemia (FH): a study comparing FH individuals in UK primary care and the UK Simon Broome register linked with secondary care records
22. Modelling a two-stage screen for autosomal dominant familial hypercholesterolaemia (FH) in UK Biobank
23. Posttranscriptional regulation of the LDL Receptor in humans by the U2-spliceosome and its interactors
24. Increased incidence of neoplasia of the digestive tract in men with persistent activation of the coagulant pathway
25. The plasminogen activator inhibitor-1 −675 4G/5G genotype influences the risk of myocardial infarction associated with elevated plasma proinsulin and insulin concentrations in men from Europe: the HIFMECH Study
26. A functional haplotype in the 5′ flanking region of the factor VII gene is associated with an increased risk of coronary heart disease
27. Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men
28. The West Midland Familial Hypercholesterolaemia (FH) screening programme: Evaluating the utility of the 12 SNP polygenic risk score (PRS) across ethnic groupings
29. Reduction in cardiovascular disease morbidity of men and women with familial hypercholesterolaemia (FH) associated with availability of high intensity statins: A cohort study using data from the UK Simon Broome Register linked with secondary care records
30. Identification of FH-causing variants in patients with clinical familial hypercholesterolaemia recruited into the 100,000 genome project: preliminary analysis
31. The −629C>A polymorphism in the CETP gene does not explain the association of TaqIB polymorphism with risk and age of myocardial infarction in Icelandic men
32. The effect of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene on homocysteine levels in elderly men and women from the British regional heart study
33. Genetically determined telomeres shortening is associated with carotid atherosclerosis progression and increased incidence of cardiovascular events
34. Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert panel
35. Establishing reference intervals for triglyceride containing lipoprotein sub-fraction metabolites measured using nuclear magnetic resonance spectroscopy in a UK population
36. Characteristics and cardiovascular disease morbidity of men and women with familial hypercholesterolaemia (FH): a cohort study using data from the UK Simon Broome register linked with secondary care records
37. Cardiovascular disease incidence in 21 years follow-up in severe and non-severe familial hypercholesterolaemia (FH) : Data from the UK Simon Broome FH register
38. The U2-spliceosome and its interactors regulate the levels and activity of the LDL receptor in humans
39. Effect of apo E phenotype on plasma postprandial triglyceride levels in young male adults with and without a familial history of myocardial infarction: the EARS II study
40. Fh Phenotype: Monogenic, Polygenic Or Other Causes?
41. Atherosclerosis in monogenic familial hypercholesterolemia versus polygenic hypercholesterolemia
42. Optimising detection and management of Familial Hypercholesterolaemia (FH) – Revision of the FH Audit tool to monitor lipid levels
43. A novel common variant −181 G insertion in the promoter of the gene for phospholipid transfer protein
44. MS443 THE ARG399GLN VARIANT IN THE DNA REPAIR ENZYME XRCC1 IS ASSOCIATED WITH INCREASED GENETIC INSTABILITY IN PATIENTS WITH ATHEROSCLEROSIS
45. MS194 THE INFLUENCE OF APOLIPOPROTEIN E GENETIC VARIANTS ON SERUM LIPIDS AND INSULIN RESISTANCE IN TARF STUDY
46. P156 PLA2G2A, PLA2G5 AND PLA2G10 VARIANTS, SPLA2 ACTIVITY AND MASS AND CHD RISK: RESULTS FROM GRACE AND EPIC-NORFOLK
47. P84 THE UCL LDLR, PCSK9 & LDLRAP1 VARIANT DATABASES: UPDATE, ANALYSIS & OVERVIEW OF THREE PUBLICLY AVAILABLE FAMILIAL HYPERCHOLESTEROLEMIA GENE DATABASES
48. P69 RAPID AND ACCURATE GENETIC DIAGNOSIS BY LIPOCHIP® IN UK FH PATIENTS
49. W56 TELOMERES ARE SHORTER IN PATIENTS WITH POLYGENIC AND MONOGENIC FORMS OF CORONARY HEART DISEASE
50. IS FH CASCADE TESTING FEASIBLE AND COST-EFFECTIVE IN THE UK?
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