List of works by Betti Giusti

A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection

scientific article

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

article

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

scientific article (publication date: 19 May 1999)

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

scientific article

A model of anti-angiogenesis: differential transcriptosome profiling of microvascular endothelial cells from diffuse systemic sclerosis patients

scientific article

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

article

A severe case of warfarin-canrenoate interaction: a role for genetic predisposition?

scientific article published on 10 June 2010

A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

article

A time course study of high on treatment platelet reactivity in acute coronary syndrome male patients on dual antiplatelet therapy

scientific article published on 6 July 2015

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

scientific article

An expanding role of biomarkers in acute aortic syndromes

scientific article published on 01 October 2006

Antiplatelets in acute coronary syndrome: personal perspectives.

scientific article published on December 2012

Apolipoprotein(a) Kringle-IV Type 2 Copy Number Variation Is Associated with Venous Thromboembolism

scientific article

Association between homocysteine, vitamin B(6) concentrations and inflammation.

scientific article published on January 2007

Association of a single nucleotide polymorphism of the NPR3 gene promoter with early onset ischemic stroke in an Italian cohort

scientific article published on 18 September 2012

Association of rs1466535 LRP1 but not rs3019885 SLC30A8 and rs6674171 TDRD10 gene polymorphisms with abdominal aortic aneurysm in Italian patients

scientific article

Atrial septal defect closure and de novo migraine: Exclusive ticlopidine efficacy

scientific article published on 19 September 2012

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

article

Bone Marrow-Derived Progenitor Cells in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

scientific article published on 24 December 2009

Bone Marrow-Derived Progenitor Cells in the Early Phase of Ischemic Stroke: Relation with Stroke Severity and Discharge Outcome

scientific article published on 02 September 2009

CLOCK gene polymorphisms and quality of aging in a cohort of nonagenarians - The MUGELLO Study

scientific article published in Scientific Reports

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

scientific article published on 01 January 2006

Cardiovascular death and nonfatal myocardial infarction in acute coronary syndrome patients receiving coronary stenting are predicted by residual platelet reactivity to ADP detected by a point-of-care assay: a 12-month follow-up

scientific article

Carotid artery disease: novel pathophysiological mechanisms identified by gene-expression profiling of peripheral blood.

scientific article published on 14 August 2010

Characterization and identification of hidden rare variants in the human genome.

scientific article published on 24 April 2015

Clopidogrel non-responsiveness and risk of cardiovascular morbidity. An updated meta-analysis.

scientific article

Comparison of methods for monitoring residual platelet reactivity after clopidogrel by point-of-care tests on whole blood in high-risk patients

scientific article published on 10 May 2010

Comparison of three methods for total homocysteine plasma determination.

scientific article

Correction: Desmoglein-2-Integrin Beta-8 Interaction Regulates Actin Assembly in Endothelial Cells: Deregulation in Systemic Sclerosis.

scientific article published on 26 July 2013

Current status of clopidogrel pharmacogenomics

scientific article published on 01 November 2012

Cyclooxygenase and lipoxygenase metabolite synthesis by polymorphonuclear neutrophils: in vitro effect of dipyrone

scientific article published in October 1990

Cytochrome P450 2C19 loss-of-function polymorphism, but not CYP3A4 IVS10 + 12G/A and P2Y12 T744C polymorphisms, is associated with response variability to dual antiplatelet treatment in high-risk vascular patients.

scientific article published on December 2007

Cytochrome P450 2C19*2 polymorphism and cardiovascular recurrences in patients taking clopidogrel: a meta-analysis

scientific article published on 30 March 2010

Cytokine gene expression in human LPS- and IFNgamma-stimulated mononuclear cells is inhibited by heparin

article

Defibrotide reduces monocyte PAI-2 and procoagulant activity

scientific article published on 01 January 1995

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

article

Determinants to optimize response to clopidogrel in acute coronary syndrome

scientific article published on 8 April 2010

Diastolic subclinical primary alterations in marfan syndrome and marfan-related disorders

scientific article published on 01 September 2002

Different distribution of the double mutant "T833C/68 bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations

article

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

scientific article published in September 2005

EFFECTS OF ESTROGEN REPLACEMENT THERAPY ON THROMBIN GENERATION

scientific article published on 01 February 1997

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

scientific article

Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism

scientific article published on 10 May 2010

Effect of Medium-term Supplementation with a Moderate Dose of n-3 Polyunsaturated Fatty Acids on Blood Pressure in Mild Hypertensive Patients

scientific article published on 01 August 1998

Effect of Temperature and Incubation Time on D-Dimer Serum Levels in Healthy Subjects

scientific article published on 01 March 2000

Effect of low-dose heparin on fibrinogen levels in patients with chronic ischemic heart disease

scientific article published on 01 January 1998

Evaluation of a New Point-of-care Celite-activated Clotting Time Analyzer in Different Clinical Settings

scientific article published on 01 July 2003

Evaluation of clotting and fibrinolytic activation after protracted physical exercise.

scientific article published in January 1998

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

scientific article

Factor II 20210 G-->A polymorphism associated to factor V Leiden: a report of two thrombophilic families.

scientific article published in March 1998

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

scientific article published in June 2001

Fish intake and LPA 93C>T polymorphism: Gene-environment interaction in modulating lipoprotein (a) concentrations

article

Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians

scientific article published on 01 April 1998

Gender and anti-thrombotic therapy: from biology to clinical implications

scientific article published on 28 January 2014

Gene expression profile of rat left ventricles reveals persisting changes following chronic mild exercise protocol: implications for cardioprotection

scientific article

Genetic Contributions to the Development of Complications in Preterm Newborns.

scientific article published on 14 July 2015

Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm

scientific article published on 17 July 2008

Genetic and nutritional factors determining circulating levels of lipoprotein(a): results of the "Montignoso Study"

scientific article published on 28 January 2020

Genetic determinants of fasting and post-methionine hyperhomocysteinemia in patients with retinal vein occlusion

scientific article published in April 2003

Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants

scientific article published on 13 June 2012

Genetic polymorphisms of antioxidant enzymes in preterm infants

scientific article published on 01 October 2012

Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations.

scientific article published in May 2009

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

scientific article

Global platelet hyperreactivity and elevated C-reactive protein levels predict long term mortality in STEMI patients.

scientific article published on 24 July 2014

H3M2: detection of runs of homozygosity from whole-exome sequencing data

scientific article

HCV infection facilitates asymptomatic carotid atherosclerosis: preliminary report of HCV RNA localization in human carotid plaques.

scientific article published in September 2007

Hepatitis C virus RNA localization in human carotid plaques

scientific article published on 5 November 2009

Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase.

scientific article published in September 1998

High Prevalence of Anti-β2 Glycoprotein I Antibodies in Patients with Ischemic Heart Disease

scientific article published on 01 January 1999

High on-aspirin platelet reactivity predicts cardiac death in acute coronary syndrome patients undergoing PCI.

scientific article published on 4 January 2016

High on-treatment platelet reactivity by ADP and increased risk of MACE in good clopidogrel metabolizers

scientific article published on 05 March 2012

High on-treatment platelet reactivity by more than one agonist predicts 12-month follow-up cardiovascular death and non-fatal myocardial infarction in acute coronary syndrome patients receiving coronary stenting.

scientific article published on 27 May 2010

High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm

scientific article published on 01 September 2000

High residual platelet reactivity after clopidogrel loading and long-term cardiovascular events among patients with acute coronary syndromes undergoing PCI.

scientific article published on September 2011

High-Dose Atorvastatin on the Pharmacodynamic Effects of Double-Dose Clopidogrel in Patients Undergoing Percutaneous Coronary Interventions

scientific article published on 01 February 2013

High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.

scientific article published on 22 April 2008

Hyperhomocysteinemia and vitamin B6 deficiency: new risk markers for nonvalvular atrial fibrillation?

scientific article published in September 2004

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

scientific article

Improvement in ACE I/D polymorphism detection

scientific article published on 08 November 2010

Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale

scientific article published in April 2004

Increased plasma levels of lipoprotein(a) and the risk of idiopathic and recurrent venous thromboembolism

scientific article

Infection with SARS-CoV-2 Variants Is Associated with Different Long COVID Phenotypes

scientific article published in 2022

Inflammatory and antioxidant pattern unbalance in "clopidogrel-resistant" patients during acute coronary syndrome

scientific article

Interleukin-1 beta and interleukin-6 release by peripheral blood monocytes in head and neck cancer

scientific article published on September 1993

Interleukin-6 and acute-phase proteins in head and neck cancer

scientific article published on 01 January 1995

Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up

scientific article published on 29 November 2007

LPA +93C>T and +121G>A polymorphisms detection by electronic microchip technology

scientific article published on 26 February 2007

Low-density lipoprotein receptor-related protein 5 gene polymorphisms and genetic susceptibility to abdominal aortic aneurysm

article

Lupus Anticoagulant and Monocyte Procoagulant Activity in Polyabortive Women

scientific article published on 01 January 1993

MMP9 variation after thrombolysis is associated with hemorrhagic transformation of lesion and death

scientific article published in August 2013

Marfan syndrome: current perspectives

scientific article

Matrix metalloproteinases and their tissue inhibitor after reperfused ST-elevation myocardial infarction treated with doxycycline. Insights from the TIPTOP trial

scientific article published on 18 June 2015

Mediterranean, but not lacto-ovo-vegetarian, diet positively influence circulating progenitor cells for cardiovascular prevention: The CARDIVEG study

scientific article published on 26 February 2019

Microheterogeneity in the Distribution of the 844ins68 in the Cystathionine β-Synthase Gene in Italy

article

Multiple primary tumors of the upper aerodigestive tract: is there a role for constitutional mutations in the p53 gene?

scientific article published in July 1999

NMR-based metabolomics identifies patients at high risk of death within two years after acute myocardial infarction in the AMI-Florence II cohort

Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease

scientific journal article

No association between chromosome 12p13 single nucleotide polymorphisms and early-onset ischemic stroke

scientific article published on 21 May 2010

Non-traumatic splenic rupture on dual antiplatelet therapy with aspirin and ticagrelor after stenting for acute coronary syndrome.

scientific article published on 6 June 2015

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

scientific article published on 01 April 2002

On-treatment platelet reactivity: State of the art and perspectives.

scientific article

Oxidative modification of fibrinogen is associated with altered function and structure in the subacute phase of myocardial infarction.

scientific article

Pantoprazole significantly interferes with antiplatelet effect of clopidogrel: results of a pilot randomized trial

scientific article published on 22 June 2012

Percutaneous transluminal coronary angioplasty procedure is associated to a decrease in transforming growth factor beta 1 levels

scientific article published on 01 September 1999

Pharmacodynamic effects of adjunctive high dose atorvastatin on double dose clopidogrel in patients with high on-treatment platelet reactivity depending on diabetes mellitus status

scientific article published on 01 May 2014

Pharmacogenetics of Clopidogrel: Comparison Between a Standard and a Rapid Genetic Testing

scientific article published on 12 January 2012

Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism

scientific article published in November 2003

Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancy

scientific article published on 01 February 2002

Platelet aggregability is modulated by eNOS locus in non-type 2 diabetic patients with acute coronary syndrome☆

scientific article published on 09 October 2009

Platelet and leukocyte ROS production and lipoperoxidation are associated with high platelet reactivity in Non-ST elevation myocardial infarction (NSTEMI) patients on dual antiplatelet treatment

scientific article published on 16 October 2013

Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysm

scientific article

Prevalence of factor V Leiden mutation in non-European populations

scientific article published on 01 February 1997

Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis

scientific article

Relation of CYP2C19 loss-of-function polymorphism to the occurrence of stent thrombosis.

scientific article published on April 2010

Relation of cytochrome P450 2C19 loss-of-function polymorphism to occurrence of drug-eluting coronary stent thrombosis.

scientific article

Relationship between plasma and platelet phospholipid fatty acid composition in healthy subjects

article

Relevance of post-methionine homocysteine and lipoprotein (a) in evaluating the cardiovascular risk in young CAD patients

scientific article published in January 2005

Residual platelet reactivity to predict long-term clinical outcomes after clopidogrel loading in patients with acute coronary syndromes: comparison of different cutoff values by light transmission aggregometry from the responsiveness to clopidogrel a

article

Response to antiplatelet treatment: from genes to outcome

scientific article published on October 2010

Risk and Determinants of Dementia in Patients with Mild Cognitive Impairment and Brain Subcortical Vascular Changes: A Study of Clinical, Neuroimaging, and Biological Markers-The VMCI-Tuscany Study: Rationale, Design, and Methodology.

scientific article published on 8 April 2012

Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillation susceptibility

scientific article

Role of hyperhomocysteinemia in aortic disease.

scientific article

Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study

scientific article published on 11 August 2018

Role of rs1466535 low density lipoprotein receptor-related protein 1 (LRP1) gene polymorphism in carotid artery disease

article

Stent-related defects in patients presenting with stent thrombosis: differences at optical coherence tomography between subacute and late/very late thrombosis in the Mechanism Of Stent Thrombosis (MOST) study

scientific article published on December 2013

Systemic sclerosis-endothelial cell antiangiogenic pentraxin 3 and matrix metalloprotease 12 control human breast cancer tumor vascularization and development in mice

scientific article published on October 2009

Th1 and Th2 T-helper cells exert opposite regulatory effects on procoagulant activity and tissue factor production by human monocytes.

scientific article published on July 1995

The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease.

scientific article published in November 2001

The antiangiogenic tissue kallikrein pattern of endothelial cells in systemic sclerosis

scientific article

The balance between pro- and anti-inflammatory cytokines is associated with platelet aggregability in acute coronary syndrome patients

scientific article published on 11 April 2008

The role of cysteine and homocysteine in venous and arterial thrombotic disease.

scientific article published in July 2001

Thrombophilic risk factors in patients with central retinal vein occlusion

scientific article published in September 2001

Tissue factor and plasminogen activator inhibitor type 2 expression in human stimulated monocytes is inhibited by heparin

scientific article published on 01 January 1997

Transient intermittent lymphocyte activation is responsible for the instability of angina

scientific article published on 01 September 1992

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

scientific article

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

scientific article

Unbalanced Metalloproteinase-9 and Tissue Inhibitors of Metalloproteinases Ratios Predict Hemorrhagic Transformation of Lesion in Ischemic Stroke Patients Treated with Thrombolysis: Results from the MAGIC Study

scientific article published on 27 May 2015

Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat model.

scientific article

Using a calibration experiment to assess gene-specific information: full Bayesian and empirical Bayesian models for two-channel microarray data.

scientific article

WNP: a novel algorithm for gene products annotation from weighted functional networks

scientific article

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

scientific article published on 19 September 2020

World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker

scientific article published in February 1999

[The role of hemostatic factors in atherogenesis]

scientific article published on 01 October 1997

eNOS gene influences platelet phenotype in acute coronary syndrome patients on dual antiplatelet treatment

scientific article published in December 2009

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