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Items: 1 to 20 of 247

1.

PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA).

Zhang M, Tavora F, Oliveira JB, Li L, Franco M, Fowler D, Zhao Z, Burke A.

Circ J. 2012;76(1):189-94. Epub 2011 Oct 22.

2.

Mutations of desmoglein-2 in sudden death from arrhythmogenic right ventricular cardiomyopathy and sudden unexplained death.

Zhang M, Xue A, Shen Y, Oliveira JB, Li L, Zhao Z, Burke A.

Forensic Sci Int. 2015 Oct;255:85-8. doi: 10.1016/j.forsciint.2015.07.052. Epub 2015 Aug 8.

PMID:
26296472
3.

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.

4.

Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy.

Aneq MÅ, Fluur C, Rehnberg M, Söderkvist P, Engvall J, Nylander E, Gunnarsson C.

Scand Cardiovasc J. 2012 Apr;46(2):72-5. doi: 10.3109/14017431.2011.636068. Epub 2011 Dec 8.

PMID:
22035158
5.

Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

Kirchner F, Schuetz A, Boldt LH, Martens K, Dittmar G, Haverkamp W, Thierfelder L, Heinemann U, Gerull B.

Circ Cardiovasc Genet. 2012 Aug 1;5(4):400-11. doi: 10.1161/CIRCGENETICS.111.961854. Epub 2012 Jul 9.

6.

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
7.

Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy.

Wu SL, Wang PN, Hou YS, Zhang XC, Shan ZX, Yu XY, Deng M.

Chin Med J (Engl). 2009 Feb 20;122(4):403-7.

PMID:
19302745
8.

Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells.

Caspi O, Huber I, Gepstein A, Arbel G, Maizels L, Boulos M, Gepstein L.

Circ Cardiovasc Genet. 2013 Dec;6(6):557-68. doi: 10.1161/CIRCGENETICS.113.000188. Epub 2013 Nov 7.

9.

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP.

Circulation. 2006 Apr 4;113(13):1641-9. Epub 2006 Mar 20.

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.

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
12.

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
13.

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
14.

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.

15.

Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report.

Sato T, Nishio H, Suzuki K.

Leg Med (Tokyo). 2011 Nov;13(6):298-300. doi: 10.1016/j.legalmed.2011.08.004. Epub 2011 Oct 13.

PMID:
22000064
16.

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.

17.

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L.

Nat Genet. 2004 Nov;36(11):1162-4. Epub 2004 Oct 17. Erratum in: Nat Genet. 2005 Jan;37(1):106.

PMID:
15489853
18.

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.

Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld AC, Dooijes D, Gow RM, van Tintelen JP, Gollob MH.

Clin Genet. 2013 May;83(5):452-6. doi: 10.1111/j.1399-0004.2012.01950.x. Epub 2012 Sep 10.

PMID:
22889254
19.

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
20.

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.

Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9.

PMID:
20829228

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