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Items: 1 to 20 of 129

1.

Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.

Alcalde M, Campuzano O, Berne P, García-Pavía P, Doltra A, Arbelo E, Sarquella-Brugada G, Iglesias A, Alonso-Pulpon L, Brugada J, Brugada R.

PLoS One. 2014 Jun 26;9(6):e100560. doi: 10.1371/journal.pone.0100560. eCollection 2014.

2.

Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.

Zhou X, Chen M, Song H, Wang B, Chen H, Wang J, Wang W, Feng S, Zhang F, Ju W, Li M, Gu K, Cao K, Wang DW, Yang B.

Eur J Med Genet. 2015 Apr;58(4):258-65. doi: 10.1016/j.ejmg.2015.02.009. Epub 2015 Mar 9.

PMID:
25765472
3.

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A.

Heart Rhythm. 2010 Jan;7(1):22-9. doi: 10.1016/j.hrthm.2009.09.070. Epub 2009 Oct 12.

PMID:
20129281
4.

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.

Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM.

Heart Rhythm. 2006 Aug;3(8):939-44. Epub 2006 May 3.

PMID:
16876743
5.

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.

Circulation. 2006 Mar 7;113(9):1171-9. Epub 2006 Feb 27.

6.

Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP.

J Am Coll Cardiol. 2006 Oct 3;48(7):1416-24. Epub 2006 Sep 12.

7.

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

Lahtinen AM, Lehtonen E, Marjamaa A, Kaartinen M, Heliö T, Porthan K, Oikarinen L, Toivonen L, Swan H, Jula A, Peltonen L, Palotie A, Salomaa V, Kontula K.

Heart Rhythm. 2011 Aug;8(8):1214-21. doi: 10.1016/j.hrthm.2011.03.015. Epub 2011 Mar 10.

PMID:
21397041
8.

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN.

Circulation. 2006 Apr 4;113(13):1650-8. Epub 2006 Mar 27.

9.

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary Study of Right Ventricular Dysplasia Investigators.

J Am Coll Cardiol. 2010 Feb 9;55(6):587-97. doi: 10.1016/j.jacc.2009.11.020. Erratum in: J Am Coll Cardiol. 2010 Mar 30;55(13):1401. Pillichou, Kalliopi [corrected to Pilichou, Kalliopi].

10.

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D, Hauer RN.

Heart Rhythm. 2013 Apr;10(4):548-59. doi: 10.1016/j.hrthm.2012.12.020. Epub 2012 Dec 25.

PMID:
23270881
11.

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P.

Europace. 2010 Jun;12(6):861-8. doi: 10.1093/europace/euq104. Epub 2010 Apr 16.

PMID:
20400443
12.

Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Gandjbakhch E, Vite A, Gary F, Fressart V, Donal E, Simon F, Hidden-Lucet F, Komajda M, Charron P, Villard E.

Europace. 2013 Oct;15(10):1522-5. doi: 10.1093/europace/eut224. Epub 2013 Jul 14.

PMID:
23858024
13.

Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N.

Eur Heart J. 2006 Sep;27(18):2208-16. Epub 2006 Aug 7.

PMID:
16893920
14.

Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Ohno S, Nagaoka I, Fukuyama M, Kimura H, Itoh H, Makiyama T, Shimizu A, Horie M.

Circ J. 2013;77(6):1534-42. Epub 2013 Mar 20.

15.

Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.

Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4.

16.

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.

Alcalde M, Campuzano O, Allegue C, Torres M, Arbelo E, Partemi S, Iglesias A, Brugada J, Oliva A, Carracedo A, Brugada R.

Int J Legal Med. 2015 Jan;129(1):1-10. doi: 10.1007/s00414-014-0996-y. Epub 2014 May 16.

PMID:
24832006
17.

Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP.

Circ Cardiovasc Genet. 2009 Oct;2(5):418-27. doi: 10.1161/CIRCGENETICS.108.839829. Epub 2009 Aug 1.

18.

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.

Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ.

Circulation. 2007 Apr 3;115(13):1710-20. Epub 2007 Mar 19.

19.

Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy.

Bao JR, Wang JZ, Yao Y, Wang YL, Fan XH, Sun K, Zhang S, Hui RT, Song L.

Chin Med J (Engl). 2013 Nov;126(22):4238-41.

PMID:
24238504
20.

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, te Riele AS, van den Berg MP, Bikker H, Atsma DE, de Groot NM, Houweling AC, van der Heijden JF, Russell SD, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Calkins H, Hauer RN.

Eur Heart J. 2015 Apr 7;36(14):847-55. doi: 10.1093/eurheartj/ehu509. Epub 2015 Jan 23.

PMID:
25616645

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