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Page 1
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy.
De Bortoli M, Postma AV, Poloni G, Calore M, Minervini G, Mazzotti E, Rigato I, Ebert M, Lorenzon A, Vazza G, Cipriani A, Bariani R, Perazzolo Marra M, Husser D, Thiene G, Daliento L, Corrado D, Basso C, Tosatto SCE, Bauce B, van Tintelen JP, Rampazzo A. De Bortoli M, et al. Among authors: calore m. Circ Genom Precis Med. 2018 Oct;11(10):e002123. doi: 10.1161/CIRCGEN.118.002123. Circ Genom Precis Med. 2018. PMID: 30354300
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, Calore M, Li Mura IE, Basso C, Thiene G, Lanfranchi G, Danieli GA, Nava A, Rampazzo A. De Bortoli M, et al. Among authors: calore m. Eur J Hum Genet. 2010 Jul;18(7):776-82. doi: 10.1038/ejhg.2010.19. Epub 2010 Mar 3. Eur J Hum Genet. 2010. PMID: 20197793 Free PMC article.
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A. Lorenzon A, et al. Among authors: calore m. Am J Cardiol. 2013 Feb 1;111(3):400-5. doi: 10.1016/j.amjcard.2012.10.017. Epub 2012 Nov 17. Am J Cardiol. 2013. PMID: 23168288 Free PMC article.
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A. Li Mura IE, et al. Among authors: calore m. Eur J Hum Genet. 2013 Nov;21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486541 Free PMC article.
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, Migliore F, Marra MP, Lorenzon A, De Bortoli M, Calore M, Nava A, Daliento L, Gregori D, Iliceto S, Thiene G, Basso C, Corrado D. Rigato I, et al. Among authors: calore m. Circ Cardiovasc Genet. 2013 Dec;6(6):533-42. doi: 10.1161/CIRCGENETICS.113.000288. Epub 2013 Sep 26. Circ Cardiovasc Genet. 2013. PMID: 24070718
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A. Lorenzon A, et al. Among authors: calore m. Am J Cardiol. 2015 Oct 15;116(8):1245-51. doi: 10.1016/j.amjcard.2015.07.037. Epub 2015 Jul 28. Am J Cardiol. 2015. PMID: 26310507
Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy.
Sacchetto C, Mohseni Z, Colpaert RMW, Vitiello L, De Bortoli M, Vonhögen IGC, Xiao K, Poloni G, Lorenzon A, Romualdi C, Bariani R, Mazzotti E, Daliento L, Bauce B, Corrado D, Thum T, Rampazzo A, de Windt LJ, Calore M. Sacchetto C, et al. Among authors: calore m. Cells. 2021 Sep 28;10(10):2578. doi: 10.3390/cells10102578. Cells. 2021. PMID: 34685557 Free PMC article.
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
Pilichou K, Lazzarini E, Rigato I, Celeghin R, De Bortoli M, Perazzolo Marra M, Cason M, Jongbloed J, Calore M, Rizzo S, Regazzo D, Poloni G, Iliceto S, Daliento L, Delise P, Corrado D, Van Tintelen JP, Thiene G, Rampazzo A, Basso C, Bauce B, Lorenzon A, Occhi G. Pilichou K, et al. Among authors: calore m. Circ Arrhythm Electrophysiol. 2017 Oct;10(10):e005324. doi: 10.1161/CIRCEP.117.005324. Circ Arrhythm Electrophysiol. 2017. PMID: 29038103
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy.
Poloni G, Calore M, Rigato I, Marras E, Minervini G, Mazzotti E, Lorenzon A, Li Mura IEA, Telatin A, Zara I, Simionati B, Perazzolo Marra M, Ponti J, Occhi G, Vitiello L, Daliento L, Thiene G, Basso C, Corrado D, Tosatto S, Bauce B, Rampazzo A, De Bortoli M. Poloni G, et al. Among authors: calore m. Heart Rhythm. 2019 May;16(5):773-780. doi: 10.1016/j.hrthm.2018.11.015. Epub 2018 Nov 17. Heart Rhythm. 2019. PMID: 30453078
33 results