189 results on '"Defesche J"'
Search Results
2. Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
3. Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes*
4. Lipoproteins and Atherosclerosis
5. MED-PED: An Integrated Genetic Strategy for Preventing Early Deaths
6. Results from a Family and DNA Based Active Identification Programme for Familial Hypercholesterolaemia
7. Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes*
8. Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes
9. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLR mutations
10. The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients
11. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia
12. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis
13. 3259Next-generation sequencing to confirm clinical FH in The Netherlands
14. Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
15. South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population
16. High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent
17. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia
18. Parental attitude towards genetic testing for familial hypercholesterolaemia in children
19. Results from a family and DNA based active identification programme for familial hypercholesterolaemia
20. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia
21. Abcg5 And Abcg8 Variants In Familial Hypercholesterolemia
22. A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia
23. A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia
24. Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia
25. Familial hypercholesterolæmia in children and adolescents: Gaining decades of life by optimizing detection and treatment
26. Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia - A clingen fh expert panel pilot study
27. Cardiac computed tomography imaging in familial hypercholesterolaemia: implications for therapy and clinical trials
28. An approach to genetic diagnosis of severe hypertriglyceridaemia
29. DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases
30. APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required
31. Results from a family and DNA based active identification programme for familial hypercholesterolaemia
32. Familial hypercholesterolemia
33. Prevalentie van familiaire hypercholesterolemie onder volwassenen in vier huisartsenpraktijken hoger dan werd aangenomen
34. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands
35. Opsporing van patiënten met familiaire hypercholesterolemie in Nederland
36. A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia
37. Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein
38. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia
39. Mutations inLPL,APOC2,APOA5,GPIHBP1andLMF1in patients with severe hypertriglyceridaemia
40. The gene for Hereditary Bullous dystrophy, X-linked Macular Type, maps to the Xq27.3-qter region
41. Het karakteriseren van puntmutaties in het low-density lipoproteïne gen in Nederlandse patiënten met heterozygote familiaire hypercholesterolemie
42. Een landelijk opsporingsprogramma voor personen met erfelijke hypercholesterolemie, met behulp van moleculaire diagnostiek
43. Screening for familial defective apolipoprotein B-100 with improved U937 monocyte proliferation assay
44. Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia
45. The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway
46. Abstract: 48 PHENOTYPE AND GENOTYPE OF FAMILIAL HYPERCHOLESTEROLEMIA IN OVER 2000 CHILDREN
47. Abstract: 526 GENETICS OF LDL: STATE-OF-THE-ART
48. Abstract: 531 A UNIQUE TOOL TO DETECT LDLR, APOB AND PCSK9 POINT MUTATIONS AS WELL AS COPY NUMBER CHANGE IN THE LDLR GENE
49. Abstract: P841 NON-FUNCTIONALITY OF THREE LDL-R AND APOB GENE MUTATIONS THAT WERE ASSUMED TO CAUSE FAMILIAL HYPERCHOLESTEROLEMIA
50. Abstract: P365 LOSS OF DISULFIDE BOND IN LECITHIN:CHOLESTEROL ACYL TRANSFERASE DUE TO A CYS313—>TYR MUTATION CAUSES FAMILIAL LCAT DEFICIENCY IN A PATIENT OF MOROCCAN DESCENT
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.