BEFFAGNA, GIORGIA

BEFFAGNA, GIORGIA  

Dipartimento di Biologia - DiBio  

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Risultati 1 - 20 di 57 (tempo di esecuzione: 0.05 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy 2002 RAMPAZZO, ALESSANDRANAVA, ANDREABEFFAGNA, GIORGIABAUCE, BARBARABASSO, CRISTINATHIENE, GAETANODANIELI, GIAN ANTONIO + AMERICAN JOURNAL OF HUMAN GENETICS - -
Identification and characterization of heart-specific splicing of human Neurexin3 mRNA (NRXN3) 2002 OCCHI, GIANLUCARAMPAZZO, ALESSANDRABEFFAGNA, GIORGIADANIELI, GIAN ANTONIO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS - -
Genotype-phenotype correlation in arrhythmogenic right-ventricular cardiomyopathy linked to desmoplakin mutation (ARVD8) 2003 RAMPAZZO, ALESSANDRABASSO, CRISTINABEFFAGNA, GIORGIATHIENE, GAETANODANIELI, GIAN ANTONIO + EUROPEAN HEART JOURNAL - -
Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. 2003 RAMPAZZO, ALESSANDRABEFFAGNA, GIORGIAOCCHI, GIANLUCABAUCE, BARBARABASSO, CRISTINAFRIGO, GIANFRANCO MARIOTHIENE, GAETANO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region. 2004 BEFFAGNA, GIORGIARAMPAZZO, ALESSANDRABAUCE, BARBARA + GENE - -
Regulatory mutations in transforming growth factor-beta 3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 2005 RAMPAZZO, ALESSANDRABEFFAGNA, GIORGIAVITIELLO, LIBEROBASSO, CRISTINATHIENE, GAETANO + CARDIOVASCULAR RESEARCH - -
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. 2005 BAUCE, BARBARABASSO, CRISTINARAMPAZZO, ALESSANDRABEFFAGNA, GIORGIADALIENTO, LUCIANODANIELI, GIAN ANTONIOTHIENE, GAETANONAVA, ANDREA + EUROPEAN HEART JOURNAL - -
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. 2005 BEFFAGNA, GIORGIAOCCHI, GIANLUCANAVA, ANDREAVITIELLO, LIBEROBASSO, CRISTINABAUCE, BARBARATHIENE, GAETANODANIELI, GIAN ANTONIORAMPAZZO, ALESSANDRA + CARDIOVASCULAR RESEARCH - -
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy 2006 PILICHOU, KALLIOPINAVA, ANDREABASSO, CRISTINABEFFAGNA, GIORGIABAUCE, BARBARAVETTORI, ANDREAVALENTE, MARIALUISATHIENE, GAETANODANIELI, GIAN ANTONIORAMPAZZO, ALESSANDRA + CIRCULATION - -
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. 2006 BASSO, CRISTINABAUCE, BARBARABEFFAGNA, GIORGIAPILICHOU, KALLIOPICORRADO, DOMENICODALIENTO, LUCIANODANIELI, GIAN ANTONIOVALENTE, MARIALUISANAVA, ANDREATHIENE, GAETANORAMPAZZO, ALESSANDRA + EUROPEAN HEART JOURNAL - -
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. 2007 BEFFAGNA, GIORGIANAVA, ANDREABAUCE, BARBARAOCCHI, GIANLUCABASSO, CRISTINALANFRANCHI, GEROLAMOTHIENE, GAETANORAMPAZZO, ALESSANDRA + BMC MEDICAL GENETICS - -
Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. 2007 RAMPAZZO, ALESSANDRABAUCE, BARBARAPILICHOU, KALLIOPIBEFFAGNA, GIORGIADANIELI, GIAN ANTONIONAVA, ANDREA + EUROPACE - -
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia 2010 BAUCE, BARBARANAVA, ANDREABEFFAGNA, GIORGIABASSO, CRISTINAPERAZZOLO MARRA, MARTINATHIENE, GAETANORAMPAZZO, ALESSANDRA + HEART RHYTHM - -
Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (vol 55, pg 587, 2010) 2010 RAMPAZZO, ALESSANDRABEFFAGNA, GIORGIAPILICHOU, KALLIOPINAVA, ANDREABAUCE, BARBARATHIENE, GAETANOBASSO, CRISTINA + JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY - -
Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy 2010 RAMPAZZO, ALESSANDRABEFFAGNA, GIORGIAPILICHOU, KALLIOPIDANIELI, GIAN ANTONIONAVA, ANDREABAUCE, BARBARATHIENE, GAETANOBASSO, CRISTINA + JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY - -
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy 2010 BEFFAGNA, GIORGIABAUCE, BARBARABASSO, CRISTINATHIENE, GAETANOLANFRANCHI, GEROLAMODANIELI, GIAN ANTONIONAVA, ANDREARAMPAZZO, ALESSANDRA + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Is beta-catenin signalling involved in the molecular pathogenesis of arrhythmogenic right ventricular cardiomyopathy? Study on DSG2 transgenic mice 2010 BEFFAGNA, GIORGIALORENZON, ALESSANDRAGRUMATI, PAOLOBONALDO, PAOLOBRAGHETTA, PAOLARAMPAZZO, ALESSANDRA + EUROPEAN HEART JOURNAL - -
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. 2011 BAUCE, BARBARARAMPAZZO, ALESSANDRABASSO, CRISTINABEFFAGNA, GIORGIAPILICHOU, KALLIOPIPERAZZOLO MARRA, MARTINADALIENTO, LUCIANOILICETO, SABINOCORRADO, DOMENICOTHIENE, GAETANONAVA, ANDREA + HEART RHYTHM - -
Study of the molecular pathogenesis of arrhythmogenic cardiomyopathy due to Desmoglein-2 mutations: the zebrafish helps the mouse 2012 BEFFAGNA, GIORGIALORENZON, ALESSANDRAMILANETTO, MARTINAGRUMATI, PAOLODAZZO, EMANUELAMORO, ENRICOARGENTON, FRANCESCOBONALDO, PAOLOBRAGHETTA, PAOLARAMPAZZO, ALESSANDRA + CELL AND TISSUE RESEARCH - -
Follow-Up with Exercise Test of Effort-Induced Ventricular Arrhythmias Linked to Ryanodine Receptor Type 2 Gene Mutations. 2012 NAVA, ANDREARAMPAZZO, ALESSANDRABASSO, CRISTINATHIENE, GAETANODALIENTO, LUCIANOBEFFAGNA, GIORGIACORRADO, DOMENICOBAUCE, BARBARA + THE AMERICAN JOURNAL OF CARDIOLOGY - -