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ANGELO BALDASSARE CEFALU'

Curriculum e ricerca

Insegnamenti

Anno accademico Codice della materia Nome della materia CFU Corso di studi
2020/2021 05000 MEDICINA INTERNA C.I. 12 MEDICINA E CHIRURGIA
2020/2021 12163 MEDICINA INTERNA. MODULO II (MODULO) 4 MEDICINA E CHIRURGIA

Pubblicazioni

Data Titolo Tipologia Scheda
2019 PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study Articolo in rivista Vai
2019 Therapeutic options for homozygous familial hypercholesterolemia: the role of Lomitapide Articolo in rivista Vai
2018 Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred Articolo in rivista Vai
2018 Circulating Molecular Chaperones in Subjects with Amnestic Mild Cognitive Impairment and Alzheimer's Disease: Data from the Zabùt Aging Project Articolo in rivista Vai
2018 Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study Articolo in rivista Vai
2018 Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes Articolo in rivista Vai
2018 Lack of Correlation of Plasma HDL With Fecal Cholesterol and Plasma Cholesterol Efflux Capacity Suggests Importance of HDL Functionality in Attenuation of Atherosclerosis Articolo in rivista Vai
2018 Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score” Articolo in rivista Vai
2018 Anti-PCSK9 treatment: Is ultra-low LDL always good? Articolo in rivista Vai
2018 Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score Articolo in rivista Vai
2018 An unexplained congenital disorder of glycosylation-II in a child with neurohepatic involvement, hypercholesterolemia and hypoceruloplasminemia Articolo in rivista Vai
2017 Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study Articolo in rivista Vai
2017 Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature Articolo in rivista Vai
2017 Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing Articolo in rivista Vai
2017 Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily Proceedings (TIPOLOGIA NON ATTIVA) Vai
2017 Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia Articolo in rivista Vai
2017 Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy Articolo in rivista Vai
2017 Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) Articolo in rivista Vai
2016 Albumin versus solvent/detergent-treated pooled plasma as replacement fluid for long-term plasma exchange therapy in a patient with primary hypertriglyceridemia and recurrent hyperlipidemic pancreatitis Articolo in rivista Vai
2016 Myristic acid is associated to low plasma HDL cholesterol levels in a Mediterranean population and increases HDL catabolism by enhancing HDL particles trapping to cell surface proteoglycans in a liver hepatoma cell model Articolo in rivista Vai
2016 Lomitapide affects HDL composition and function Articolo in rivista Vai
2016 Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population Articolo in rivista Vai
2016 FragClust and TestClust, two informatics tools for chemical structure hierarchical clustering analysis applied to lipidomics. The example of Alzheimer's disease Articolo in rivista Vai
2016 Metabolic disturbances and risk of cancer in the 25 years follow-up of the “Ventimiglia Heart Study” epidemiological project Proceedings (TIPOLOGIA NON ATTIVA) Vai
2016 Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia - Brief Report Articolo in rivista Vai
2016 Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up Articolo in rivista Vai
2016 Characterization of a mutant form of human apolipoprotein B (Thr26-Tyr27del) associated with familial hypobetalipoproteinemia Articolo in rivista Vai
2016 Erratum: FragClust and TestClust, two informatics tools for chemical structure hierarchical clustering analysis applied to lipidomics. The example of Alzheimer's disease (Analytical and Bioanalytical Chemistry DOI: 10.1007/s00216-015-9229-6) Articolo in rivista Vai
2016 Genetic epidemiology of ARH in Sicily Proceedings (TIPOLOGIA NON ATTIVA) Vai
2016 Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort Articolo in rivista Vai
2015 Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature Articolo in rivista Vai
2015 Role of Nutraceuticals in Hypolipidemic Therapy Articolo in rivista Vai
2015 Effects of Steatosis on Hepatic Hemodynamics in Patients with Metabolic Syndrome Articolo in rivista Vai
2015 The pathophysiology of intestinal lipoprotein production Articolo in rivista Vai
2015 Exome sequencing in suspected monogenic dyslipidemias Articolo in rivista Vai
2015 Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia Articolo in rivista Vai
2015 Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia Articolo in rivista Vai
2015 Heparin induces an accumulation of atherogenic lipoproteins during hemodialysis in normolipidemic end-stage renal disease patients. Articolo in rivista Vai
2014 RUOLO DEL POLIMORFISMO ILE148MET DEL GENE PNPLA3 NELLA STEATOSI ASSOCIATA ALLA IPOBETALIPOPROTEINEMIA FAMILIARE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2014 LA LIPIDOMICA DELLA NON ALCOHOLIC FATTY LIVER DISEASE: ANALISI DELLA CINETICA DELL’ACIDO PALMITICO MEDIANTE L’USO DI UN ISOTOPO STABILE IN UN MODELLO IN VITRO Proceedings (TIPOLOGIA NON ATTIVA) Vai
2014 NEXT GENERATION SEQUENCIN: A NEW METHODOLOGICAL APPROACH FOR THE MOLECULAR DIAGNOSIS OF GENETIC DYSLIPIDEMIAS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2014 Metabolic mediators of the effects of body-mass index, overweight, and obesity on coronary heart disease and stroke: a pooled analysis of 97 prospective cohorts with 1·8 million participants Articolo in rivista Vai
2014 eNOS activation by HDL is impaired in genetic CETP deficiency Articolo in rivista Vai
2014 Lomitapide: a novel drug for homozygous familial hypercholesterolemia Articolo in rivista Vai
2014 Beyond Statins: New Lipid Lowering Strategies to Reduce Cardiovascular Risk Articolo in rivista Vai
2014 DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH Proceedings (TIPOLOGIA NON ATTIVA) Vai
2013 Enhanced Lipid Peroxidation and Platelet Activation as Potential Contributors to Increased Cardiovascular Risk in the Low-HDL Phenotype Articolo in rivista Vai
2013 Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study Articolo in rivista Vai
2013 CLINICAL CHARACTERISTICS AND PLASMA LIPIDS IN SUBJECTS WITH FAMILIAL COMBINED HYPOLIPIDEMIA: A POOLED ANALYSIS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2013 A NOVEL APOB MUTATION IDENTIFIED BY EXOME SEQUENCING COSEGREGATES WITH STEATOSIS, LIVER CANCER AND HYPOCHOLESTEROLEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy Articolo in rivista Vai
2013 Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis Articolo in rivista Vai
2013 A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia. Articolo in rivista Vai
2013 The Atrial Natriuretic Peptide Genetic Variant Rs5068 Is Associated With a Favorable Cardiometabolic Phenotype in a Mediterranean Population Articolo in rivista Vai
2013 Nonalcoholic fatty liver and metabolic syndrome in Italy: Results from a multicentric study of the Italian Arteriosclerosis society Articolo in rivista Vai
2013 FUNCTIONAL CHARACTERIZATION OF NOVEL AMINO ACID VARIANTS IN APOB IN FAMILIAL HYPOBETALIPOPROTEINEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2012 Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia Articolo in rivista Vai
2012 Identification of a novel ANGPTL3 mutation splicing associeted to severe hypobetalipoproteinemia Proceedings (TIPOLOGIA NON ATTIVA) Vai
2012 Clinical, molecular and functional characterization of two novel mutations associated to compound heterozygous FHBL Proceedings (TIPOLOGIA NON ATTIVA) Vai
2012 Prothrombotic gene variants as risk factors of acute myocardial infarction in young women. Articolo in rivista Vai
2012 The ANP Genetic Variant RS5068 is Associated With a Favorable Cardiometabolic Phenotype in a Mediterranean Population Proceedings (TIPOLOGIA NON ATTIVA) Vai
2012 Prediction of incident type 2 diabetes mellitus based on a twenty-year follow-up of the Ventimiglia heart study Articolo in rivista Vai
2012 Lipid and apoprotein composition of HDL in partial or complete CETP deficiency Articolo in rivista Vai
2012 Prothrombotic gene variants in AMI young women Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 Plasma non-cholesterol sterols in primary hypobetalipoproteinemia Articolo in rivista Vai
2011 LIPASE MATURATION FACTOR 1 IS REQUIRED FOR ENDOTHELIAL LIPASE ACTIVITY Articolo in rivista Vai
2011 FUNCTIONAL EFFECT OF NOVEL AMINO ACID VARIANTS OF APOLIPOPROTEIN B IN FAMILIAL HYPOBETALIPOPROTEINEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. Articolo in rivista Vai
2011 VASCULOPROTECTIVE FUNCTION OF HDL FROM CETP-DEFICIENT SUBJECTS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 PREVALENCE OF ANGPTL3 AND APOB GENE MUTATIONS IN SUBJECTS WITH COMBINED HYPOLIPIDEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 Metabolomic analysis of plasma from Alzheimer disease patients Proceedings (TIPOLOGIA NON ATTIVA) Vai
2010 A novel putative interactor for the low density lipoprotein receptor cytoplasmic domain Articolo in rivista Vai
2010 Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia. Articolo in rivista Vai
2010 The production of 85 kDa N-terminal fragment of apolipoprotein B in mutant HepG2 cells generated by targeted modification of apoB gene occurs by ALLN-inhibitable protease cleavage during translocation. Articolo in rivista Vai
2010 Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles. Articolo in rivista Vai
2010 Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene Articolo in rivista Vai
2009 Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia Articolo in rivista Vai
2009 Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia. Articolo in rivista Vai
2009 Hypertension and diabetes mellitus are associated with cardiovascular events in the elderly without cardiovascular disease. Results of a 15-year follow-up in a Mediterranean population Articolo in rivista Vai
2009 Down regulation of CD11b and CD18 expression in children with hypercholesterolemia: A preliminary report. Articolo in rivista Vai
2009 Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia Articolo in rivista Vai
2009 Obesity and the metabolic syndrome in a student cohort from Southern Italy Articolo in rivista Vai
2009 Food hypersensitivity as a cause of rectal bleeding in adults Articolo in rivista Vai
2009 C-reactive protein but not soluble CD40 ligand and homocysteine is associated to common atherosclerotic risk factors in a cohort of coronary artery disease patients. Articolo in rivista Vai
2008 Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient Articolo in rivista Vai
2008 The metabolic syndrome predicts cardiovascular events in subjects with normal fasting glucose: Results of a 15 years follow-up in a Mediterranean population. Articolo in rivista Vai
2008 A novel mutation in the Lipase Maturaction Factor 1 (LMF-1)gene responsible for severe hypertriglyceridemia Proceedings (TIPOLOGIA NON ATTIVA) Vai
2008 Association between plasma lipid levels and migraine in subjects aged > or =50 years: preliminary data from the Zabùt Aging Project Articolo in rivista Vai
2007 MUTATIONS IN THE CETP GENE IN ITALIAN SUBJECTS WITH HYPERALPHALIPOPROTEINEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 GENETIC HETEROGENEITY OF SEVERE HYPOBETALIPOPROTEINEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 A metallothionein family member interacts with the intracellular domain of the low density lipoprotein (ldl) receptor. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 A metallothionein family member interacts with the intracellular domain of the low density lipoprotein (LDL) receptor Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 Decreased plasma soluble RAGE in patients with hypercholesterolemia: Effects of statins Articolo in rivista Vai
2007 INTERACTION OF THE INTRACELLULAR DOMAIN OF THE LOW DENSITY LIPOPROTEIN (LDL) RECPTOR WITH METALLOTHIONEIN2 (MT2). Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 ΒETA ARRESTIN-2: A NEW “ACTOR” IN THE LDL-R ENDOCYTOSIS? Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 A NOVEL LOSS OF FUCTION MUTATION OF PCSK9 GENE IN CAUCASIANS WITH LOW PLASMA LDL-CHOLESTEROL Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 IL GENE PCSK9: UN NUOVO GENE IMPLICATO NEL CONTROLLO DELLA COLESTEROLEMIA Articolo in rivista Vai
2007 IgA anti-actin antibodies ELISA in coeliac disease: A multicentre study. Articolo in rivista Vai
2007 CARDIOVASCULAR RISK FACTORS ANALYSIS OF PEDIATRIC MATABOLIC SYNDROME Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 SHORT APOB TRUNCATIONS SHOW IMPAIRE CHYLOMICRON EXPORT AND ENTEROCYTE TRIGLYCERIDE ACCUMULATION. IN VIVO AND IN VITRO EVIDENCE ON A APOB 28.25 STABLE-TRANSFECTED ENTEROCYTE CELL LINE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 Molecular diagnosis of hypobetalipoproteinemia: An ENID review Articolo in rivista Vai
2007 EFFECT OF THE 420C/G VARIANT OF THE RESISTIN GENE PROMOTER ON METABOLIC SYNDROME, OBESITY, MYOCARDIAL INFARCTION AND RENAL DYSFUNCTION Articolo in rivista Vai
2007 INTERLEUKIN 6 PLASMA LEVELS PREDICT WITH HIGH SENSITIVITY AND SPECIFICITY CORONARY STENOSIS DETECTED BY CORONARY ANGIOGRAPHY Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 HYPERTENSION AND DIABETES MELLITUS PREDICT CARDIOVASCULAR EVENTS IN ELDERLY WITHOUT CARDIOVASCULARDISEASE. RESULTS OF FIFTEEN YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 Interleukin 6 plasma levels predict with high sensitivity and specificity coronary stenosis detected by coronary angiography Articolo in rivista Vai
2007 THE METABOLIC SYNDROME PREDICTS CARDIOVASCULAR EVENTS IN SUBJECTS WITH NORMAL FASTING GLUCOSE. A FIFTEEN YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 FAMILIAL HYPOBETALIPOPROTEINEMIA DUE TO APOLIPOPROTEIN B GENE MUTATIONS CAUSES INTESTINAL FAT ACCUMULATION AND LIPID MALABSORPTION. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 TERAPIA CON STATINE IN PAZIENTI SICILIANI AFFETTI DA IPERLIPIDEMIA FAMILIARE COMBINATA Articolo in rivista Vai
2007 A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol. Articolo in rivista Vai
2006 PREVALENCE OF PCSK9 VARIANTS IN A COHORT OF SUBJECTS WITH HYPOCHOLESTEROLEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 Plasma calprotectin levels in patients suffering from acute pancreatitis. Articolo in rivista Vai
2006 A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 Terapia biologica con infliximab (anti-TNF) nella malattia di Crohn: analisi delle complicanze. Articolo in rivista Vai
2006 Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent Articolo in rivista Vai
2006 Additive effect of mutations in LDLR and PCSK9 genes on the phenotyoe of familial hypercholesterolemia Articolo in rivista Vai
2006 Genetic heterogeneity of familial hypercholesterolemia in Sicily Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 Association of estrogen receptor alpha gene with Alzheimer's disease: a case-control study Articolo in rivista Vai
2006 RT-PCR and in situ hybridization analysis of apolipoprotein H expression in rat normal tissues Articolo in rivista Vai
2006 COMPOUND HETEROZYGOUS FH AND FDB: IDENTIFICATION OF A SICILIAN FAMILY HARBOURING THE FDB3531 MUTATION AND THE Y398X MUTATION OF THE LDL RECEPTOR GENE. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 Multiple food hypersensitivity as a cause of refractory chronic constipation in adults Articolo in rivista Vai
2006 Low-density lipoproteins generated during an oral fat load in mild hypertriglyceridemic and healthy subjects are smaller, denser, and have an increased low-density lipoprotein receptor binding affinity. Articolo in rivista Vai
2006 Accumulation of apoE-enriched triglyceride-rich lipoproteins in patients with coronary artery disease Articolo in rivista Vai
2006 THE METABOLIC SYNDROME PREDICTS CARDIOVASCULAR EVENTS IN SUBJECTS WITH NORMAL GLUCOSE TOLERANCE. A 15 YEARS FOLLOW-UP IN A MEDITERRANEAN POPULATION Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 CEREBROTENDINOUS XANTHOMATOSIS: A SICILIAN FAMILY HARBOURING THE R362C MUTATION IN THE STEROL 27-HYDROXYLASE GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 METALLOTHIONEIN 2A: A POSSIBLE CANDIDATE ABLE TO INTERACT WITH LDL-R CYTOPLASMIC TAIL Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 A NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 Unexpleined elevated serum pancreatic enzymes: a reason to suspect celiac disease Articolo in rivista Vai
2006 ENHANCED LIPID PEROXIDATION AND PLATELET ACTIVATION AS POTENTIAL CONTRIBUTORS TO INCREASED CARDIOVASCULAR RISK IN THE LOW-HDL PHENOTYPE. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2006 CETP levels rather than polymorphisms as markers of coronary risk: healthy athlete with high HDL-C and coronary disease--effectiveness of probucol. Articolo in rivista Vai
2006 VARIABLE PHENOTYPIC ESPRESSION IN A LIPID ABSORPTION DISORDER DUE TO A MOLECULAR DEFECT IN THE SARA2 GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 Family hystory, diabetes and extension of coronary atherosclerosis are strong predictors of adverse events after PTCA: a one year follow-up study Articolo in rivista Vai
2005 A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily Articolo in rivista Vai
2005 ENHANCED LIPID PEROXIDATION AND PLATELET ACTIVATION AS POTENTIAL CONTRIBUTORS TO INCREASED CARDIOVASCULAR RISK IN THE “LOW-HDL” PHENOTYPE. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 Cystatin C levels are decreased in acute myocardial infarction: Effect of cystatin C G73A gene polymorphism on plasma levels Articolo in rivista Vai
2005 Diabetes, family hystory and extension of coronary atherosclerosis are strong predictors of adverse events after PTCA: a one year follow-up study Articolo in rivista Vai
2005 A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome Articolo in rivista Vai
2005 HYPOBETALIPOPROTEINEMIA AND FATTY LIVER: WHO IS THE CULPRIT Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Articolo in rivista Vai
2005 A NOVEL COMPOUND HETEROZYGOUS MUTATION OF THE LIPOPROTEIN LIPASE GENE IN A NEWBORN WITH CHYLOMICRONEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 SEVERE MALABSORPTION AND DECREASED TRIGLYCERIDE RICH LIPOPROTEINS PRODUCTION IN A PROBAND CARRYING A MUTATION ENCODING FOR A TRUNCATED APOLIPOPROTEIN B100 VARIANT (APO B 34.8). Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 ADDITIVE EFFECT OF MUTATIONS IN LDLR AND PCSK9 GENES ON THE PHENOTYPE OF FAMILIAL HYPERCHOLESTEROLEMIA. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 MUSCLE DAMAGE AND PAIN IN HYPERCHOLESTEROLEMIC OUT-PATIENTS POPULATION ON STATIN TREATMENT. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population. Articolo in rivista Vai
2005 DIFFERENCE IN THE PREVALENCE OF METABOLIC SYNDROME AND CARDIOVASCULAR RISK FACTORS AFTER 14 YEARS IN THE POPULATION OF VENTIMIGLIA DI SICILIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 THE METABOLIC SYNDROME IS A PREDICTOR OF CARDIOVASCULAR EVENTS IN A SICILIAN POPULATION. RESULT OF A 15 YEARS FOLLOW UP Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 PREVALENCE OF APOB VARIANTS IN A SAMPLE OF SUBJECTS WITH HYPOCHOLESTEROLEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2005 FAMILIAL HYPOALPHALIPOPROTEINEMIA ASSOCIATED TO CORNEAL OPACITIES IN ABSENCE OF LCAT DEFICIENCY Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 GLI ACIDI GRASSI SATURI ED INSATURI MODULANO L’UPTAKE DELLE LIPOPROTEINE HDL IN UN MODELLO DI CELLULE EPATICHE IN COLTURA. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 HETEROGENITY OF AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN SICILY Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 Increased risk for amnestic Mild Cognitive Impairment in subjects carrying the apolipoprotein e4 allele Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 BETA-2-GLYCOPROTEIN I IS GROWTH REGULATED AND PLAYS A ROLE AS SURVIVAL FACTOR FOR HEPATOCYTES Articolo in rivista Vai
2004 IPERCOLESTEROLEMIA AUTOSOMICA DOMINANTE IN SICILIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 MUTAZIONI DEL GENE DELL’APOB RESPONSABILI DI IPOBETALIPOPROTEINEMIA FAMILIARE IN SICILIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 UNA NUOVA MUTAZIONE DELL’INTRONE 16 (G>A a 2390 -1) DEL RECETTORE DELLE LDL RESPONSABILE DI IPERCOLESTEROLEMIA FAMILIARE. EFFETTI SULLA ESPRESSIONE DELL’mRNA DEL RECETTORE DELLE LDL Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 Transient chylomicronemic syndrome: description of three cases Abstract in rivista Vai
2004 No association of Cystatin C Polymorphism I in italian subjects with Alzheimer's disease Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 ASSOCIATION OF THE PARAOXONASE-1 Q192R POLYMORPHISM WITH CORONARY ARTERY DISEASE IN AMI PATIENTS, NON AMI CAD AND HEALTHY CONTROLS. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B: IDENTIFICATION OF A FAMILY HARBOURING THE ARG3531CYS (FDB3531) OF THE APOB GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 MISSENSE MUTATION ALA34VAL IN EXON 2 OF THE LIPOPROTEIN LIPASE GENE IN A YOUNG MAN WITH CHYLOMICRONEMIA. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 I livelli di cistatina C sono ridotti nell’infarto miocardico acuto. Effetto del polimorfismo G273A sui livelli plasmatici Abstract in rivista Vai
2004 ASSOCIAZIONE DEL POLIMORFISMO Q192R DEL GENE DELLA PARAOXONASI I (PON1) CON LA MALATTIA CORONARICA IN UN CAMPIONE DI PZ CON INFARTO MIOCARDICO, MALATTIA CORONARICA NON INFARTUALE E SOGGETTI NORMALI. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 Lack of association of low density lipoprotein receptor-related protein gene exon 3 polymorphism in italian subjects with Alzheimer's disease Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 A novel nonsense mutation in the cept gene in italian Hyperalphalipoproteinemic subjects Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 I LIVELLI DI CISTATINA C SONO RIDOTTI NELL’INFARTO MIOCARDIO ACUTO. EFFETTO DEL POLIMORFISMO G73A SUI LIVELLI PLASMATICI. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING A MUTATION IN THE LDL-R GENE AND IN THE PCSK9 GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS. Proceedings (TIPOLOGIA NON ATTIVA) Vai
2004 Le LDL generate in fase post-prandiale dopo carico grasso presentano maggiore densita’, minore size e maggiore affinita’ per il recettore Abstract in rivista Vai
2004 FAMILIAL HDL DEFICIENCY DUE TO ABCA1 GENE MUTATIONS WITH OR WITHOUT OTHER GENETIC LIPOPROTEIN DISORDERS Articolo in rivista Vai
2004 Transient chylomicronemia preceding the onset of insulin-dependent diabetes in a young girl with no humoral markers of islet autoimmunity. Articolo in rivista Vai
2003 The C(-260)>T gene polymorphism in the promoter of the CD14 monocyte receptor gene is not associated with acute myocardial infarction Articolo in rivista Vai
2003 No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease Articolo in rivista Vai
2003 Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele Articolo in rivista Vai
2003 Saturated and unsaturated free fatty acids (FFA) modulate differently HDL uptake in hepatoma HEPG2 cells Abstract in rivista Vai
2003 Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. Articolo in rivista Vai
2003 Low-density-lipoprotein peak particle size in a Mediterranean population. Articolo in rivista Vai
2003 LDL size, density and receptor affinity variation during an oral load in mild hyper-triglyceridemic and normal subjects Abstract in rivista Vai
2003 Differential apolipoprotein(a) isoform expression in heterozygosity is an independent contributor to lipoprotein(a) levels variability Articolo in rivista Vai
2002 Factor VII activity is an independent predictor of cardiovascular mortality in elderly women of a Sicilian population: Results of an 11-year follow-up Articolo in rivista Vai
2002 Levels of b-sitosterol in a sicilian sample of hyper-cholesterolemic patients Abstract in rivista Vai
2002 Studio epidemiologico “Ustica”: bassa prevalenza delle LDL aterogene in una popolazione mediterranea Abstract in rivista Vai
2002 Il polimorfismo genico del CD14 C(-260)>T non e’ un fattore di rischio per infarto miocardico acuto Abstract in rivista Vai
2002 Variations in plasma lipids and in the LDL peak particle size after acute myocardial infarction Abstract in rivista Vai
2002 Bassa prevalenza delle LDL aterogene piccole e dense in una popolazione mediterranea Abstract in rivista Vai
2002 Description of a sicilian family with hyper-alpha-lipoproteinemia with deficit of CETP activity Abstract in rivista Vai
2002 Low prevalence of the atherogenic small, dense LDL in a mediterranean population. Nutrition, Metabolism and Cardiovascular Diseases Abstract in rivista Vai
2002 Simvastatin reduces the levels of ApoE-containing triglyceride-rich lipoproteins in men with premature coronary artery disease Abstract in rivista Vai
2002 Distribution of risk factors, plasma lipids, lipoproteins and dyslipidemias in a small Mediterranean island: the Ustica Project Articolo in rivista Vai
2002 Changes in levels of triglyceride-rich lipoprotein subfractions during dialysis in uremic patients Abstract in rivista Vai
2002 CD14 C(-260)>T gene polymorphism is not a risk factor for myocardial infarction Proceedings (TIPOLOGIA NON ATTIVA) Vai
2002 CD14 C(-260)>T gene polymorphism is not a risk factor for myocardial infarction Proceedings (TIPOLOGIA NON ATTIVA) Vai
2002 Descrizione di una famiglia siciliana con iper-alfa-lipoproteinemia con deficit di CETP Abstract in rivista Vai
2002 Il polimorfismo genico CD14 C(-260)>T non e’ un fattore di rischio per infarto miocardico acuto Abstract in rivista Vai
2002 Nutritional characteristics of a rural Southern Italy population: the Ventimiglia di Sicilia Project Articolo in rivista Vai
2002 Livelli di b-sitosterolo in una popolazione siciliana di pazienti ipercolesterolemici Abstract in rivista Vai
2002 Bassa prevalenza delle LDL aterogene piccole e dense in una popolazione mediterranea Abstract in rivista Vai
2002 Changes in plasma lipids and low-density lipoprotein peak particle size during and after acute myocardial infarction Articolo in rivista Vai
2002 Lack of association between angiotensin converting enzyme polymorphism and sporadic Alzheimer's disease Articolo in rivista Vai
2001 Leukocyte count, diabetes mellitus and age are strong predictors of stroke in a rural population in southern Italy: An 8-year follow-up Articolo in rivista Vai
2001 Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients Articolo in rivista Vai
2001 Prevalence of overweight and obesity in a rural southern Italy population and relationships with total and cardiovascular mortality: The Ventimiglia di Sicilia project Articolo in rivista Vai
2001 Determinants of enhanced thromboxane biosynthesis in renal transplantation Articolo in rivista Vai
2001 Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia Articolo in rivista Vai
2001 Prevalenza di fattori di rischio e variazione temporale dei parametri lipidici in una serie consecutiva di 350 infarti acuti del miocardio registrati in una unita’ intensiva di Palermo. Abstract in rivista Vai
2001 Le variazioni dei valori dell’assetto lipidico durante la risposta di fase acuta post-infarto miocardico acuto sono accompagnate da modifiche nel size delle LDL Abstract in rivista Vai
2001 ApoE polymorphism in a small Mediterranean island: Relationships with plasma lipids, lipoproteins and LDL particle size Articolo in rivista Vai
2001 Variazioni delle sottofrazioni delle lipoproteine ricche in trigliceridi durante la dialisi in soggetti uremici Abstract in rivista Vai
2001 Chilomicronemia transitoria causa di diabete di tipo I in assenza di markers umorali di autoimmunità in una bambina di nove anni Abstract in rivista Vai
2001 Carotid atherosclerosis in hypercholesterolemic patients: Relationship with cardiovascular events Articolo in rivista Vai
2000 Accumulo di VLDL/IDL contenenti ApoE in maschi normolipemici con cardiopatia ischemica precoce Abstract in rivista Vai
2000 Accumulation of ApoE-containing triglyceride-rich lipoproteins in normolipidemic men with premature coronary artery disease Proceedings (TIPOLOGIA NON ATTIVA) Vai
2000 Treatment of primary hypercholesterolemia: comparison of the effectiveness of different statins Abstract in rivista Vai
2000 Descrizione di un modello minimo per lo studio della cinetica dei chilomicroni dopo pasto grasso Abstract in rivista Vai
1996 HDL subfractions distribution in renal transplant recipients: Lack of evidence of a reduction of HDL2 particles Articolo in rivista Vai
1995 Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: effects of L-thyroxine substitution therapy Articolo in rivista Vai