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List of works by Maurizio Averna

A genetic variant of the atrial natriuretic peptide gene is associated with cardiometabolic protection in the general community.

scientific article

A new apolipoprotein B truncation (apo B-43.7) in familial hypobetalipoproteinemia: genetic and metabolic studies

scientific article published on 01 October 1996

A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene

scientific article published on 01 January 1994

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

scientific article published on 30 May 2013

A novel component of the metabolic syndrome: the oxidative stress.

scientific article published on 10 September 2009

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

scientific article

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome

scientific article published in January 2005

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily

scientific article

A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and stroke

scientific article published in May 2004

A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation

scientific journal article

ANMCO/ISS/AMD/ANCE/ARCA/FADOI/GICR-IACPR/SICI-GISE/SIBioC/SIC/SICOA/SID/SIF/SIMEU/SIMG/SIMI/SISA Consensus document. Hypercholesterolemia and cardiovascular risk: diagnostic and therapeutic pathways in Italy

scientific article published on June 2016

ANMCO/ISS/AMD/ANCE/ARCA/FADOI/GICR-IACPR/SICI-GISE/SIBioC/SIC/SICOA/SID/SIF/SIMEU/SIMG/SIMI/SISA Joint Consensus Document on cholesterol and cardiovascular risk: diagnostic-therapeutic pathway in Italy

scientific article published on 2 May 2017

Accumulation of apoE-enriched triglyceride-rich lipoproteins in patients with coronary artery disease

scientific article published on 01 May 2006

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

scientific article

An irregular atrial tachycardia : What is the underlying mechanism?

scientific article

Analysis of sterols by high-performance liquid chromatography/mass spectrometry combined with chemometrics

scientific article published on January 2006

Anti-actin antibodies in celiac disease: correlation with intestinal mucosa damage and comparison of ELISA with the immunofluorescence assay

scientific article published on 01 May 2005

ApoE polymorphism in a small Mediterranean island: relationships with plasma lipids, lipoproteins and LDL particle size

scientific article published in January 2001

Apolipoprotein AI and HDL are reduced in stable cirrhotic patients with adrenal insufficiency: a possible role in glucocorticoid deficiency

scientific article published on 16 January 2015

Apolipoprotein profile in type II diabetic patients with and without coronary heart disease.

scientific article published in October 1990

Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy

scientific article published on 01 July 2003

Association between apolipoprotein E epsilon4 allele and apathy in probable Alzheimer's disease.

scientific article

Autoimmune enteropathy and colitis in an adult patient

scientific article published in August 2003

Behavior of the total antioxidant status in a group of subjects with metabolic syndrome.

scientific article published on 24 May 2014

Beyond statins: new lipid lowering strategies to reduce cardiovascular risk

scientific article published on June 2014

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.

scientific article

CETP levels rather than polymorphisms as markers of coronary risk: Healthy athlete with high HDL-C and coronary disease—effectiveness of probucol

Changes in plasma lipids and low-density lipoprotein peak particle size during and after acute myocardial infarction.

scientific article published on February 2002

Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score

article

Chronic constipation and food intolerance: a model of proctitis causing constipation

scientific article published on 01 January 2005

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

scientific article published on 20 September 2013

Clinical experience of lomitapide therapy in patients with homozygous familial hypercholesterolaemia

scientific article published on September 2014

Clinical utility of novel biomarkers for cardiovascular disease risk stratification.

scientific article published on October 2012

Correlation between different degree and duration of metabolic control and thyroid hormone levels in type 1 and type 2 diabetics

scientific article published on 01 October 1983

Cystatin C levels are decreased in acute myocardial infarction: effect of cystatin C G73A gene polymorphism on plasma levels.

scientific article published in May 2005

Decreased plasma soluble RAGE in patients with hypercholesterolemia: effects of statins

scientific article published on 4 July 2007

DeepSRE: Identification of sterol responsive elements and nuclear transcription factors Y proximity in human DNA by Convolutional Neural Network analysis

scientific article published on 04 March 2021

Determinants of enhanced thromboxane biosynthesis in renal transplantation

scientific article published in April 2001

Diagnostic accuracy of fecal calprotectin assay in distinguishing organic causes of chronic diarrhea from irritable bowel syndrome: a prospective study in adults and children

scientific article (publication date: June 2003)

Diagnostic use of fructosamine assay in the control of type II diabetes mellitus

scientific article published on 01 January 1988

Dietary cholate increases plasma levels of apolipoprotein B in mice by posttranscriptional mechanisms

scientific article

Differential apolipoprotein(a) isoform expression in heterozygosity is an independent contributor to lipoprotein(a) levels variability.

scientific article

Down regulation of CD11b and CD18 expression in children with hypercholesterolemia: a preliminary report

scientific article published on 3 August 2008

Effect of the -420C/G variant of the resistin gene promoter on metabolic syndrome, obesity, myocardial infarction and kidney dysfunction.

scientific article published in July 2007

Effectiveness of cascade filtration plasmapheresis in two patients affected by familial hypercholesterolemia

scientific article published on 01 January 1995

Effects of Mediterranean diet on lipid levels and cardiovascular risk in renal transplant recipients

scientific article published on 01 January 1999

Effects of PCSK9 variants on common carotid artery intima media thickness and relation to ApoE alleles.

scientific article published on 27 June 2009

Effects of a phytosterol-enriched dairy product on lipids, sterols and 8-isoprostane in hypercholesterolemic patients: a multicenter Italian study.

scientific article published on 31 August 2008

Effects of synvinolin on platelet aggregation and thromboxane B2 synthesis in type IIa hypercholesterolemic patients

scientific article published in September 1989

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study

scientific article

Efficacy and safety of adding alirocumab to rosuvastatin versus adding ezetimibe or doubling the rosuvastatin dose in high cardiovascular-risk patients: The ODYSSEY OPTIONS II randomized trial

scientific article published on 14 November 2015

Efficacy and safety of ezetimibe added to atorvastatin versus atorvastatin uptitration or switching to rosuvastatin in patients with primary hypercholesterolemia

scientific article published on 21 September 2013

Estrogen Up-regulates Apolipoprotein E (ApoE) Gene Expression by Increasing ApoE mRNA in the Translating Pool via the Estrogen Receptor α-Mediated Pathway

scientific article published in Journal of Biological Chemistry

Estrogen increases hepatic lipase levels in inbred strains of mice: a possible mechanism for estrogen-dependent lowering of high density lipoprotein

scientific article published in April 2001

Evaluation of nitric oxide metabolites in a group of subjects with metabolic syndrome.

scientific article published in July 2012

Ezetimibe/simvastatin 10/20 mg versus rosuvastatin 10 mg in high-risk hypercholesterolemic patients stratified by prior statin treatment potency

scientific article

Ezetimibe/simvastatin 10/20 mg versus simvastatin 40 mg in coronary heart disease patients

scientific article published on June 2010

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

scientific article published in February 2004

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

scientific article

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

scientific article

Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.

scientific article

Family history, diabetes and extension of coronary atherosclerosis are strong predictors of adverse events after PTCA: A one-year follow-up study.

scientific article

Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.

scientific article

FragClust and TestClust, two informatics tools for chemical structure hierarchical clustering analysis applied to lipidomics. The example of Alzheimer's disease

scientific article

Gastrointestinal symptoms in infancy: a population-based prospective study

scientific article published on 02 March 2005

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia

scientific article

Heparin induces an accumulation of atherogenic lipoproteins during hemodialysis in normolipidemic end-stage renal disease patients

scientific article published on 12 December 2014

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

scientific article

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature

scientific article

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

scientific article published on 20 June 2008

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

scientific article

Lack of association between angiotensin converting enzyme polymorphism and sporadic Alzheimer's disease

scientific article published in December 2002

Leukocyte count, diabetes mellitus and age are strong predictors of stroke in a rural population in southern Italy: an 8-year follow-up.

scientific article

Lipase maturation factor 1 is required for endothelial lipase activity.

scientific article

Lipid and Apoprotein Composition of HDL in Partial or Complete CETP Deficiency

article

Lipid peroxidation, nitric oxide metabolites, and their ratio in a group of subjects with metabolic syndrome

scientific article

Lipid-altering efficacy of ezetimibe/simvastatin 10/20 mg compared to rosuvastatin 10 mg in high-risk patients with and without type 2 diabetes mellitus inadequately controlled despite prior statin monotherapy

scientific article published on 07 July 2010

Lipid-altering efficacy of ezetimibe/simvastatin 10/20 mg compared with rosuvastatin 10 mg in high-risk hypercholesterolaemic patients inadequately controlled with prior statin monotherapy - The IN-CROSS study

scientific article published on 16 February 2009

Lipid-altering efficacy of switching to ezetimibe/simvastatin 10/20 mg versus rosuvastatin 10 mg in high-risk patients with and without metabolic syndrome.

scientific article published on 22 August 2011

Lipoprotein profile and high-density lipoproteins: subfractions distribution in centenarians.

scientific article published in January 1998

Lipoprotein(a) levels in relation to albumin concentration in childhood nephrotic syndrome

scientific article published on 01 June 1999

Lomitapide affects HDL composition and function.

scientific article

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

scientific article published on October 2006

Molecular diagnosis of hypobetalipoproteinemia: an ENID review

scientific article

Multiple food hypersensitivity as a cause of refractory chronic constipation in adults.

scientific article

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

scientific article published on 19 January 2005

No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease.

scientific article published in May 2003

Nonalcoholic fatty liver and metabolic syndrome in Italy: results from a multicentric study of the Italian Arteriosclerosis society

article

Normal intestinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (ApoB) mRNA levels, and ApoB-48 synthesis in a hypobetalipoproteinemic kindred without any ApoB truncation.

scientific article published in September 1997

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

scientific article

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia

scientific article

Obesity and the metabolic syndrome in a student cohort from Southern Italy

scientific article

Oxidative status in nondiabetic middle-aged subjects with metabolic syndrome: preliminary data.

scientific article published on 27 March 2013

Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: Effects of l-thyroxine substitution therapy

scientific article published on 01 October 1995

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

scientific article published in June 2011

Plasma non-cholesterol sterols: a useful diagnostic tool in pediatric hypercholesterolemia

scientific article published in February 2010

Postprandial hyperglycemia is a determinant of platelet activation in early type 2 diabetes mellitus.

scientific article published on 17 January 2010

Prediction of incident type 2 diabetes mellitus based on a twenty-year follow-up of the Ventimiglia heart study.

scientific article published on 23 June 2011

Prevalence of 'borderline' values of cardiovascular risk factors in the clinical practice of general medicine in Italy: results of the BORDERLINE study

scientific article published on June 2011

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

scientific article

Prevalence of overweight and obesity in a rural southern Italy population and relationships with total and cardiovascular mortality: the Ventimiglia di Sicilia project

scientific article published on 01 February 2001

Protein oxidation in a group of subjects with metabolic syndrome

scientific article published on 01 January 2013

Screening for celiac disease in non-Hodgkin's lymphoma patients: a serum anti-transglutaminase-based approach.

scientific article

Serum apolipoprotein profile of hypertriglyceridemic patients with chronic renal failure on hemodialysis: a comparison with type IV hyperlipoproteinemic patients

scientific article published on 01 July 1989

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

scientific article published on 19 January 2013

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia

scientific article published on 01 May 2015

Statin therapy in patients with aortic stenosis after the ASTRONOMER trial: is there still any space?

scientific article published on 05 May 2011

Study of the correlations among some parameters of the oxidative status, gelatinases, and their inhibitors in a group of subjects with metabolic syndrome

scientific article

Switching from statin monotherapy to ezetimibe/simvastatin or rosuvastatin modifies the relationships between apolipoprotein B, LDL cholesterol, and non-HDL cholesterol in patients at high risk of coronary disease

scientific article published on 22 February 2011

The C(-260)>T gene polymorphism in the promoter of the CD14 monocyte receptor gene is not associated with acute myocardial infarction.

scientific article

The atrial natriuretic peptide genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in a Mediterranean population.

scientific article published on May 2013

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population

scientific article published on 01 May 2006

The effect of ezetimibe on NAFLD.

scientific article published on February 2015

The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia - a post-hoc analysis of a Phase 3, single-arm, open-label trial.

scientific article

The metabolic syndrome predicts cardiovascular events in subjects with normal fasting glucose: results of a 15 years follow-up in a Mediterranean population

scientific article published on 26 April 2007

The pathophysiology of intestinal lipoprotein production.

scientific article published on 20 March 2015

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

scientific article

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.

scientific article published on 6 July 2010

The use of statins in people at risk of developing diabetes mellitus: evidence and guidance for clinical practice.

scientific article published on June 2014

Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins

scientific article published on 19 June 2017

Thrombin-antithrombin III complexes in type II diabetes mellitus

scientific article published on 01 January 1992

Thromboxane B2 formation and platelet sensitivity to prostacyclin in insulin-dependent and insulin-independent diabetics.

scientific article published in June 1982

Transient chylomicronemia preceding the onset of insulin-dependent diabetes in a young girl with no humoral markers of islet autoimmunity.

scientific article

Treating homozygous familial hypercholesterolemia in a real-world setting: Experiences with lomitapide

scientific article published on 14 May 2015

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.

scientific article

Unexplained elevated serum pancreatic enzymes: a reason to suspect celiac disease

scientific article published on 01 April 2006

Use of famotidine in severe exocrine pancreatic insufficiency with persistent maldigestion on enzymatic replacement therapy. A long-term study in cystic fibrosis

scientific article published on 01 September 1992

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

scientific article published on 20 October 2009

eNOS activation by HDL is impaired in genetic CETP deficiency.

scientific article

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