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280 related items for PubMed ID: 17105751

  • 1. 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; 28(5):581-8. PubMed ID: 17105751
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  • 2. 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. PubMed ID: 20031616
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  • 3. 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 03; 115(13):1710-20. PubMed ID: 17372169
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  • 4. High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
    Hermida A, Fressart V, Hidden-Lucet F, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Mansencal N, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller DI, Rouanet S, Charron P, Gandjbakhch E.
    Eur J Heart Fail; 2019 Jun 03; 21(6):792-800. PubMed ID: 30790397
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  • 5. 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 03; 48(7):1416-24. PubMed ID: 17010805
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  • 9. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
    Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ.
    Circulation; 2005 Aug 02; 112(5):636-42. PubMed ID: 16061754
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  • 11. A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
    Chen L, Rao M, Chen X, Chen K, Ren J, Zhang N, Zhao Q, Yu W, Yuan B, Song J.
    Int J Cardiol; 2019 Jan 01; 274():263-270. PubMed ID: 30454721
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  • 12. Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.
    Lin Y, Huang J, Zhao T, He S, Huang Z, Chen X, Fei H, Luo H, Liu H, Wu S, Lin X.
    J Electrocardiol; 2018 Jan 01; 51(5):837-843. PubMed ID: 30177324
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  • 14. Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.
    Chen P, Li Z, Yu B, Ma F, Li X, Wang DW.
    Int J Cardiol; 2020 Jan 01; 298():25-31. PubMed ID: 31653443
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  • 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 01; 13(6):298-300. PubMed ID: 22000064
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  • 16. Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
    Qiu X, Liu W, Hu D, Zhu T, Li C, Li L, Guo C, Liu X, Wang L, Zheng H, Wang C, Diao Q, Shi D, Zhan P, Deng Y, Liu K, Wang Y, Liu B, Liu H, Zhang L.
    Am J Cardiol; 2009 May 15; 103(10):1439-44. PubMed ID: 19427443
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  • 17. 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 07; 113(9):1171-9. PubMed ID: 16505173
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  • 18. 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 07; 27(18):2208-16. PubMed ID: 16893920
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  • 19. Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
    Wada Y, Ohno S, Aiba T, Horie M.
    Mol Genet Genomic Med; 2017 Nov 07; 5(6):639-651. PubMed ID: 29178656
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  • 20. 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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