Sfoglia per Autore
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.
2011 Bauce, Barbara; Rampazzo, Alessandra; Basso, Cristina; Mazzotti, E; Rigato, I; Steriotis, A; Beffagna, Giorgia; Lorenzon, A; DE BORTOLI, M; Pilichou, Kalliopi; PERAZZOLO MARRA, Martina; Corbetti, F; Daliento, Luciano; Iliceto, Sabino; Corrado, Domenico; Thiene, Gaetano; Nava, Andrea
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
2010 De Bortoli, M; Beffagna, Giorgia; Bauce, Barbara; Lorenzon, A; Smaniotto, G; Rigato, I; Calore, M; Li Mura, Ie; Basso, Cristina; Thiene, Gaetano; Lanfranchi, Gerolamo; Danieli, GIAN ANTONIO; Nava, Andrea; Rampazzo, Alessandra
Is beta-catenin signalling involved in the molecular pathogenesis of arrhythmogenic right ventricular cardiomyopathy? Study on DSG2 transgenic mice
2010 Beffagna, Giorgia; Lorenzon, Alessandra; Sabatelli, P; Doliana, R; Grumati, Paolo; Carnevale, D; Lembo, G; Bonaldo, Paolo; Braghetta, Paola; Rampazzo, Alessandra
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
2010 Bauce, Barbara; Nava, Andrea; Beffagna, Giorgia; Basso, Cristina; Lorenzon, A; Smaniotto, G; DE BORTOLI, M; Rigato, I; Mazzotti, E; Steriotis, A; PERAZZOLO MARRA, Martina; Towbin, Ja; Thiene, Gaetano; Danieli, Ga; Rampazzo, Alessandra
Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
2010 Xu, T; Yang, Z; Vatta, M; Rampazzo, Alessandra; Beffagna, Giorgia; Pilichou, Kalliopi; Scherer, S; Phd, ; Saffitz, J; Kravitz, J; Zareba, W; Danieli, GIAN ANTONIO; Lorenzon, A; Nava, Andrea; Bauce, Barbara; Thiene, Gaetano; Basso, Cristina; Calkins, H; Gear, K; Marcus, F; Towbin, J.
Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (vol 55, pg 587, 2010)
2010 Xu, T; Yang, Z; Vatta, M; Rampazzo, Alessandra; Beffagna, Giorgia; Pilichou, Kalliopi; Scherer, Se; Saffitz, J; Kravitz, J; Zareba, W; Danieli, Ga; Lorenzon, A; Nava, Andrea; Bauce, Barbara; Thiene, Gaetano; Basso, Cristina; Calkins, H; Gear, K; Marcus, F; Towbin, Ja
Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.
2007 Gianfranco, Frigo; Rampazzo, Alessandra; Bauce, Barbara; Pilichou, Kalliopi; Beffagna, Giorgia; Danieli, GIAN ANTONIO; Nava, Andrea; Bortolo, Martini
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
2007 Beffagna, Giorgia; DE BORTOLI, M; Nava, Andrea; Salamon, M; Lorenzon, A; Zaccolo, M; Mancuso, L; Sigalotti, L; Bauce, Barbara; Occhi, Gianluca; Basso, Cristina; Lanfranchi, Gerolamo; Towbin, Ja; Thiene, Gaetano; Danieli, Ga; Rampazzo, Alessandra
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
2006 Pilichou, Kalliopi; Nava, Andrea; Basso, Cristina; Beffagna, Giorgia; Bauce, Barbara; Lorenzon, A; Frigo, G; Vettori, Andrea; Valente, Marialuisa; Towbin, J; Thiene, Gaetano; Danieli, GIAN ANTONIO; Rampazzo, Alessandra
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.
2006 Basso, Cristina; Czarnowska, E; Della Barbera, M; Bauce, Barbara; Beffagna, Giorgia; Wlodarska, Ek; Pilichou, Kalliopi; Ramondo, A; Lorenzon, A; Wozniek, O; Corrado, Domenico; Daliento, Luciano; Danieli, GIAN ANTONIO; Valente, Marialuisa; Nava, Andrea; Thiene, Gaetano; Rampazzo, Alessandra
Regulatory mutations in transforming growth factor-beta 3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
2005 Rampazzo, Alessandra; Beffagna, Giorgia; Occhi, G; Nava, A; Vitiello, Libero; Ditadi, Ap; Basso, Cristina; Bauce, B; Carraro, G; Thiene, Gaetano; Towbin, Ja; Danieli, Ga
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.
2005 Beffagna, Giorgia; Occhi, Gianluca; Nava, Andrea; Vitiello, Libero; Ditadi, A; Basso, Cristina; Bauce, Barbara; Carraro, G; Thiene, Gaetano; Towbin, Ja; Danieli, GIAN ANTONIO; Rampazzo, Alessandra
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
2005 Bauce, Barbara; Basso, Cristina; Rampazzo, Alessandra; Beffagna, Giorgia; Daliento, Luciano; Frigo, G; Malacrida, S; Settimo, L; Danieli, GIAN ANTONIO; Thiene, Gaetano; Nava, Andrea
TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region.
2004 Rossi, V; Beffagna, Giorgia; Rampazzo, Alessandra; Bauce, Barbara; G., Danieli
Genotype-phenotype correlation in arrhythmogenic right-ventricular cardiomyopathy linked to desmoplakin mutation (ARVD8)
2003 Bauce, B; Rampazzo, Alessandra; Basso, Cristina; Frigo, G; Beffagna, Giorgia; Thiene, Gaetano; Danieli, GIAN ANTONIO; Nava, A.
Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes.
2003 Rampazzo, Alessandra; Beffagna, Giorgia; Nava, A; Occhi, Gianluca; Bauce, Barbara; Noiato, M; Basso, Cristina; Frigo, GIANFRANCO MARIO; Thiene, Gaetano; Towbin, J; Danieli, Ga
Identification and characterization of heart-specific splicing of human Neurexin3 mRNA (NRXN3)
2002 Occhi, Gianluca; Rampazzo, Alessandra; Beffagna, Giorgia; Danieli, GIAN ANTONIO
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
2002 Rampazzo, Alessandra; Nava, Andrea; Malacrida, S.; Beffagna, Giorgia; Bauce, Barbara; Rossi, V.; Zimbello, R.; Simionati, B.; Basso, Cristina; Thiene, Gaetano; Towbin, J. A.; Danieli, GIAN ANTONIO
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