100 results on '"CALANDRA S"'
Search Results
2. Novel pathogenic variants of the LDLR gene identified in putative FH subjects
3. Attainment of 2019 ESC/EAS lipid targets in a cohort of high and very-high risk subjects identified through cardiology and laboratory databases
4. Clinical and genetic features of familial hypercholesterolemia in pediatric patients: The lipigen Study
5. Use of evolocumab in a patient with homozygous familial hypercholesterolemia
6. Surgical cytoreduction and hyperthermic intraperitoneal chemotherapy in patients affected by recurrent or persistent peritoneal carcinomatosis form epithelial ovarian cancer with high peritoneal cancer index values: Our single center experience
7. Splenic Artery Syndrome as a Possible Cause of Late Onset Refractory Ascites After Liver Transplantation: Management With Proximal Splenic Artery Embolization
8. ANGPTL3, carotid imt and advanced lipid profiling in dyslipidemias: Data from the adsl project
9. Evaluation of serum cholesterol efflux capacity in diabetic compared to healthy subjects
10. Molecular characterization of three Italian cases of lipoprotein glomerulopathy
11. Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia
12. Cardiovascular risk profile in a patient with a novel splice site ABCA1 mutation (HDL Chelsea–Modena)
13. 593 NOVEL RARE VARIANTS OF APOA5 GENE IN PATIENTS WITH SEVERE HYPERTRIGLYCERIDEMIA
14. 608 HYPOALPHA-HYPOBETALIPOPROTEINEMIA (FAMILIAL COMBINED HYPOLIPIDEMIA) CAUSED BY LOSS OF FUNCTION MUTATIONS OF ANGPTL3 GENE
15. 186 NOVEL ABCA1 MUTATIONS IN L PATIENTS WITH SEVERE HDL DEFICIENCY WITH OR WITHOUT CLASSIC MANIFESTATIONS OF TANGIER DISEASE
16. Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol
17. [41] LOW PLASMA HDL IN WOLMAN/CHOLESTERYL ESTER STORAGE DISEASE: IS ABCA1 TRANSPORTER THE LINK?
18. [87] PARAMETERS SIGNIFICANTLY ASSOCIATED WITH TENDON XANTHOMATOSIS (Tx) IN 619 GENETICALLY CHARACTERIZED ITALIAN FH PATIENTS
19. [14] IN VITRO AND EX VIVO FUNCTIONAL CHARACTERIZATION ON NEWLY IDENTIFIED ATP BINDING CASSETTE A1 MUTATIONS
20. [72] cDNA MICROARRAY APPROACH FOR THE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
21. [100] AN APPARENT INCONSISTENCY IN PARENT TO OFFSPRING TRANSMISSION OF POINT MUTATIONS OF LDLR GENE IN FAMILIAL HYPERCHOLESTEROLEMIA
22. [12] LOW HDL-C LEVELS IN FH: POSSIBLE DEFECT OF ABCA1 TRANSPORTER
23. [43] STIMULATION OF ABCG1 CHOLESTEROL EFFLUX BY LXR-RXR AGONISTS IN HUMAN TANGIER FIBROBLASTS
24. [92] MOLECULAR CHARACTERIZATION OF TWO NOVEL PATIENTS WITH CHOLESTERYL ESTER STORAGE DISEASE (CESD)
25. [90] A MODERATE PHENOTYPIC EXPRESSION IN A PATIENT HOMOZYGOUS FOR D200G MUTATION OF LDLR GENE
26. [89] PREDICTIVE FACTORS OF CAROTID ARTERIES STENOSIS IN GENETICALLY CHARACTERIZED HETEROZYGOUS FH PATIENTS
27. [85] CLINICAL AND BIOCHEMICAL FEATURES IN ITALIAN FH AND FDB PATIENTS
28. 81 APOE MODENA: A NOVEL APOE MUTANT CAUSING LIPOPROTEIN GLOMERULOPATHY
29. 68 CEREBROTENDINOUS XANTHOMATOSIS IN A COMPOUND HETEROZYGOTE FOR TWO MUTATIONS ON CYP27 GENE: DIAGNOSIS AND TREATMENT
30. 83 NEW LDLR GENE MUTATIONS CAUSING FH IN ITALY
31. 86 A NEW SPLICING MUTATION OF LPL GENE IN AN HYPERCHYLOMICRONEMIC PATIENT WITH RECURRENT PANCREATITIS
32. 56 A NOVEL HOMOZYGOUS MUTATION IN CETP GENE AS A CAUSE OF CETP DEFICIENCY IN A CAUCASIAN KINDRED
33. 85 A NEW ABCA1 SPLICING MUTATION IN AN ITALIAN PATIENT WITH TANGIER DISEASE
34. 94 UPDATED DATABASE OF ITALIAN FH MUTATIONS. A TOOL FOR HIGH THROUGHPUT MOLECULAR DIAGNOSIS OF FH
35. 90 HYPERCHYLOMICRONEMIA SYNDROME AND LIPID ENCEPHALOPATHY IN A CHILD WITH APOC2 DEFICIENCY
36. 110 A NEW FDB SICILIAN FAMILY WITH p.R3527W MUTATION OF APO B
37. 87 A NOVEL MUTATION OF THE LIPA GENE FOUND IN A PATIENT WITH CHOLESTEROL ESTER STORAGE DISEASE (CESD): UNUSUAL FINDING FOR THE OLD AGE OF THE PROBAND
38. 14 T940M SUBSTITUTION IN ABCA1 TRANSPORTER: A NEW DOMINANT NEGATIVE MUTATION?
39. 84 STRATEGY OF GENETIC ANALYSIS IN HYPOALPHALIPOPROTEINEMIA (HPA)
40. PO5-152 FUNCTIONAL CHARACTERIZATION OF ABCA1 GENE MUTANTS
41. PO1-2 EFFECT OF ROSUVASTATIN ON HDL SECRETION BY LIVER CELLS
42. Mo-P6:411 Novel approaches to the detection of heterozygote LDLR mutations causing severe familial hypercholesterolemia
43. Mo-W13:4 Frequency of carriers of autosomal recessive hypercholesterolemia (ARH) in the sardinian population: Preliminary results
44. Mo-P6:413 Genotype-phenotype relationship in LCAT deficiencies
45. T04-P-042 Abnormal apo-B messenger RNA splicingin familial hypobetalipoproteinemia
46. W06-O-001 Mutations in APOA5 gene in severe hypertriglyceridemia
47. Molecular-genetics of the hypoalphalipoproteinemias in Italy
48. Investigation into the role of the apolipoprotein B 8344 C/T gene variant by PCR allele-specific amplification
49. Sizing of D19S394 microsatellite by automated gel-electrophoresis on micro-fabricated channels for linkage studies with FH mutations
50. Transcriptional regulation of human sterol 27-hydroxylase gene in HepG2 cells
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