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Journal Abstract Search


448 related items for PubMed ID: 22000064

  • 1. 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. PubMed ID: 22000064
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  • 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. PubMed ID: 26296472
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  • 3. Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
    Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.
    Hum Mutat; 2013 May; 34(5):697-705. PubMed ID: 23381804
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  • 4. Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
    Lin Y, Huang J, He S, Feng R, Zhong Z, Liu Y, Ye W, Li X, Liao H, Fei H, Rao F, Shan Z, Deng C, Zhan X, Xue Y, Liu H, Zhang B, Wang K, Zhang Q, Wu S, Lin X.
    BMC Med Genet; 2018 Aug 21; 19(1):148. PubMed ID: 30129429
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  • 6. 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 21; 12(6):861-8. PubMed ID: 20400443
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  • 7. Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.
    Gandjbakhch E, Fressart V, Bertaux G, Faivre L, Simon F, Frank R, Fontaine G, Villard E, Coirault C, Hainque B, Charron P.
    Europace; 2009 Mar 21; 11(3):379-81. PubMed ID: 19151369
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  • 8. 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 21; 47(11):736-44. PubMed ID: 20864495
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  • 12. 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 21; 60(2):457-61. PubMed ID: 25693453
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  • 14. Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
    Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, McKenna WJ.
    Eur Heart J; 2007 Mar 21; 28(5):581-8. PubMed ID: 17105751
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  • 16. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
    Qadri S, Anttonen O, Viikilä J, Seppälä EH, Myllykangas S, Alastalo TP, Holmström M, Heliö T, Koskenvuo JW.
    BMC Med Genet; 2017 Aug 17; 18(1):86. PubMed ID: 28818065
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  • 18. Genetics of arrhythmogenic right ventricular cardiomyopathy--status quo and future perspectives.
    Paul M, Schulze-Bahr E, Breithardt G, Wichter T.
    Z Kardiol; 2003 Feb 17; 92(2):128-36. PubMed ID: 12596074
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  • 19. Pathology of arrhythmogenic right ventricular cardiomyopathy/dysplasia--an autopsy study of 20 forensic cases.
    Fornes P, Ratel S, Lecomte D.
    J Forensic Sci; 1998 Jul 17; 43(4):777-83. PubMed ID: 9670499
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  • 20. 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 17; 46(2):72-5. PubMed ID: 22035158
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