Beffagna G - Search Results

1

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes.

Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, Basso C, Frigo G, Thiene G, Towbin J, Danieli GA. Rampazzo A, et al. Among authors: beffagna g. Eur J Hum Genet. 2003 Jan;11(1):69-76. doi: 10.1038/sj.ejhg.5200914. Eur J Hum Genet. 2003. PMID: 12529708

2

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Rampazzo A, et al. Among authors: beffagna g. Am J Hum Genet. 2002 Nov;71(5):1200-6. doi: 10.1086/344208. Epub 2002 Oct 8. Am J Hum Genet. 2002. PMID: 12373648 Free PMC article.

3

Identification and characterization of heart-specific splicing of human neurexin 3 mRNA (NRXN3).

Occhi G, Rampazzo A, Beffagna G, Antonio Danieli G. Occhi G, et al. Among authors: beffagna g. Biochem Biophys Res Commun. 2002 Oct 18;298(1):151-5. doi: 10.1016/s0006-291x(02)02403-8. Biochem Biophys Res Commun. 2002. PMID: 12379233

4

TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region.

Rossi V, Beffagna G, Rampazzo A, Bauce B, Danieli GA. Rossi V, et al. Among authors: beffagna g. Gene. 2004 Jun 23;335:101-8. doi: 10.1016/j.gene.2004.03.008. Gene. 2004. PMID: 15194193

5

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A. Beffagna G, et al. Cardiovasc Res. 2005 Feb 1;65(2):366-73. doi: 10.1016/j.cardiores.2004.10.005. Cardiovasc Res. 2005. PMID: 15639475

6

Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.

Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A. Bauce B, et al. Among authors: beffagna g. Eur Heart J. 2005 Aug;26(16):1666-75. doi: 10.1093/eurheartj/ehi341. Epub 2005 Jun 7. Eur Heart J. 2005. PMID: 15941723

7

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A. Pilichou K, et al. Among authors: beffagna g. Circulation. 2006 Mar 7;113(9):1171-9. doi: 10.1161/CIRCULATIONAHA.105.583674. Epub 2006 Feb 27. Circulation. 2006. PMID: 16505173

8

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.

Basso C, Czarnowska E, Della Barbera M, Bauce B, Beffagna G, Wlodarska EK, Pilichou K, Ramondo A, Lorenzon A, Wozniek O, Corrado D, Daliento L, Danieli GA, Valente M, Nava A, Thiene G, Rampazzo A. Basso C, et al. Among authors: beffagna g. Eur Heart J. 2006 Aug;27(15):1847-54. doi: 10.1093/eurheartj/ehl095. Epub 2006 Jun 14. Eur Heart J. 2006. PMID: 16774985

9

Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.

Frigo G, Rampazzo A, Bauce B, Pilichou K, Beffagna G, Danieli GA, Nava A, Martini B. Frigo G, et al. Among authors: beffagna g. Europace. 2007 Jun;9(6):391-7. doi: 10.1093/europace/eum053. Epub 2007 Apr 18. Europace. 2007. PMID: 17442746

10

Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.

Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towbin JA, Thiene G, Danieli GA, Rampazzo A. Beffagna G, et al. BMC Med Genet. 2007 Oct 26;8:65. doi: 10.1186/1471-2350-8-65. BMC Med Genet. 2007. PMID: 17963498 Free PMC article.

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