Search Results - "Favalli, Valentina"
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The MOGE(S) Classification of Cardiomyopathy for Clinicians
Published in Journal of the American College of Cardiology (22-07-2014)“…Abstract Most cardiomyopathies are familial diseases. Cascade family screening identifies asymptomatic patients and family members with early traits of…”
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The MOGE(S) Classification for a Phenotype–Genotype Nomenclature of Cardiomyopathy
Published in Journal of the American College of Cardiology (03-12-2013)“…A substantial increase in the knowledge of the genetic basis of cardiomyopathy has occurred, and noninvasive phenotypic characterization has become…”
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Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics
Published in European heart journal (21-05-2022)“…Abstract This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as…”
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4
Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking
Published in Journal of human hypertension (01-03-2020)“…Interaction between arterial stiffness and hypertension plays an important role in the development of cardiovascular disease. Accordingly, assessment of…”
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5
A Multidimensional Approach of Surgical Mortality Assessment and Stratification (Smatt Score)
Published in Scientific reports (03-07-2020)“…Surgical mortality is the most significant measure of outcome in surgical healthcare. The objective was to assess surgical 30 days mortality and improve the…”
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Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects
Published in Journal of the American College of Cardiology (23-08-2011)“…Objectives We sought to describe the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS)…”
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When Should Cardiologists Suspect Anderson-Fabry Disease?
Published in The American journal of cardiology (15-11-2010)“…Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide…”
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Pathologic substrate of gastropathy in Anderson-Fabry disease
Published in Orphanet journal of rare diseases (22-06-2020)“…Abstract In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular…”
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PIK3CA mutation analysis in circulating tumor cells of patients with hormone receptor positive metastatic breast cancer
Published in Biochemistry and biophysics reports (01-09-2024)“…In metastatic breast cancer (MBC), blood is a source of circulating tumor cells (CTCs). CTCs may serve as a ‘‘real-time liquid biopsy” as they represent…”
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10
Radiation Therapy for Head and Neck Cancer and Angioneogenesis
Published in JACC. Cardiovascular imaging (01-06-2016)Get full text
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11
Left Ventricular Noncompaction
Published in Journal of the American College of Cardiology (30-08-2016)“…Abstract Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin…”
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Correction: Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking
Published in Journal of human hypertension (01-03-2020)“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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13
Quantitative Expression of the Mutated Lamin A/C Gene in Patients With Cardiolaminopathy
Published in Journal of the American College of Cardiology (06-11-2012)“…Objectives The authors sought to investigate the gene and protein expression in Lamin A/C ( LMNA )-mutated dilated cardiolaminopathy (DCM) patients (DCM LMNA…”
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Cardio-Oncology
Published in Journal of the American College of Cardiology (01-10-2016)Get full text
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15
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Published in Journal of the American College of Cardiology (30-08-2016)“…Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer,…”
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The Pathologic Basis of Recovery
Published in Heart failure clinics (2014)“…More patients with end-stage heart failure are now being supported by left ventricular assist devices (LVAD) as a bridge to heart transplant. The LVAD unloads…”
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Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review
Published in Journal of the American College of Cardiology (13-11-2018)“…Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm…”
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18
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm
Published in American journal of human genetics (01-04-2021)“…The increasing scope of genetic testing allowed by next-generation sequencing (NGS) dramatically increased the number of genetic variants to be interpreted as…”
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Functionally Incomplete Re-Endothelialization of Stents and Neoatherosclerosis
Published in JACC. Cardiovascular interventions (11-12-2017)“…[Display omitted]…”
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Genetic causes of dilated cardiomyopathy
Published in Heart (British Cardiac Society) (15-12-2016)Get more information
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