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Items: 1 to 20 of 153

1.

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.

2.

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
3.

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.

4.

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
5.

Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy.

Bao J, Wang J, Yao Y, Wang Y, Fan X, Sun K, He DS, Marcus FI, Zhang S, Hui R, Song L.

Circ Cardiovasc Genet. 2013 Dec;6(6):552-6. doi: 10.1161/CIRCGENETICS.113.000122. Epub 2013 Oct 14.

6.

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.

Circ Cardiovasc Genet. 2013 Dec;6(6):533-42. doi: 10.1161/CIRCGENETICS.113.000288. Epub 2013 Sep 26.

7.

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.

8.

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.

9.

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
10.

Identification of arrhythmogenic right ventricular cardiomyopathy-causing gene mutations in young sudden unexpected death autopsy cases.

Sato T, Nishio H, Suzuki K.

J Forensic Sci. 2015 Mar;60(2):457-61. doi: 10.1111/1556-4029.12657. Epub 2015 Feb 18.

PMID:
25693453
11.

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.

12.

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
13.

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.

14.

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP.

Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. doi: 10.1161/CIRCGENETICS.109.858217. Epub 2009 Jun 3.

15.

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R.

Clin Genet. 2010 Jan;77(1):37-48. doi: 10.1111/j.1399-0004.2009.01282.x. Epub 2009 Oct 15.

PMID:
19863551
16.

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Awad MM, Calkins H, Judge DP.

Nat Clin Pract Cardiovasc Med. 2008 May;5(5):258-67. doi: 10.1038/ncpcardio1182. Epub 2008 Apr 1. Review.

17.

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.

J Med Genet. 2010 Nov;47(11):736-44. doi: 10.1136/jmg.2010.077891. Epub 2010 Sep 23.

PMID:
20864495
18.

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.

19.

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Groeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D.

Heart Rhythm. 2014 Nov;11(11):2010-7. doi: 10.1016/j.hrthm.2014.07.041. Epub 2014 Jul 31.

PMID:
25087486
20.

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.

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