435 results on '"Defesche, Joep C."'
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2. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
3. Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia
4. Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
5. Differential DNA methylation in familial hypercholesterolemia
6. ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia
7. The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study
8. Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia
9. Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town
10. Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia
11. Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
12. Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease
13. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel
14. Ten years of lipoprotein apheresis for familial hypercholesterolemia in Malaysia: A creative approach by a cardiologist in a developing country
15. Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia
16. Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
17. Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations
18. Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in theAPOEgene
19. A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe
20. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
21. Efficacy of Statins in Familial Hypercholesterolaemia: A Long Term Cohort Study
22. Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene
23. Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia
24. Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality
25. Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin
26. Rationale and design of two trials assessing the efficacy, safety, and tolerability of inclisiran in adolescents with homozygous and heterozygous familial hypercholesterolaemia
27. Homozygous 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
28. Defining the challenges of FH Screening for familial hypercholesterolemia
29. Mortality Over Two Centuries In Large Pedigree With Familial Hypercholesterolaemia: Family Tree Mortality Study
30. Global Perspectives of Familial Hypercholesterolemia
31. 5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia
32. Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus
33. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome
34. Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement
35. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
36. Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia
37. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
38. Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia
39. Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia
40. Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands
41. Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia
42. Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in theLDLR gene
43. Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town
44. Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town
45. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease : Consensus Statement of the European Atherosclerosis Society
46. Lysosomal acid lipase A and the hypercholesterolaemic phenotype
47. Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein
48. The molecular basis of familial hypercholesterolemia in The Netherlands
49. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
50. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia
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