BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 20197793)

  • 1. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
    De Bortoli M; Beffagna G; Bauce B; Lorenzon A; Smaniotto G; Rigato I; Calore M; Li Mura IE; Basso C; Thiene G; Lanfranchi G; Danieli GA; Nava A; Rampazzo A
    Eur J Hum Genet; 2010 Jul; 18(7):776-82. PubMed ID: 20197793
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
    Beffagna G; De Bortoli M; Nava A; Salamon M; Lorenzon A; Zaccolo M; Mancuso L; Sigalotti L; Bauce B; Occhi G; Basso C; Lanfranchi G; Towbin JA; Thiene G; Danieli GA; Rampazzo A
    BMC Med Genet; 2007 Oct; 8():65. PubMed ID: 17963498
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
    Gehmlich K; Syrris P; Peskett E; Evans A; Ehler E; Asimaki A; Anastasakis A; Tsatsopoulou A; Vouliotis AI; Stefanadis C; Saffitz JE; Protonotarios N; McKenna WJ
    Cardiovasc Res; 2011 Apr; 90(1):77-87. PubMed ID: 21062920
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
    Syrris P; Ward D; Evans A; Asimaki A; Gandjbakhch E; Sen-Chowdhry S; McKenna WJ
    Am J Hum Genet; 2006 Nov; 79(5):978-84. PubMed ID: 17033975
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
    Heuser A; Plovie ER; Ellinor PT; Grossmann KS; Shin JT; Wichter T; Basson CT; Lerman BB; Sasse-Klaassen S; Thierfelder L; MacRae CA; Gerull B
    Am J Hum Genet; 2006 Dec; 79(6):1081-8. PubMed ID: 17186466
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 20129281
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
    Gerull B; Kirchner F; Chong JX; Tagoe J; Chandrasekharan K; Strohm O; Waggoner D; Ober C; Duff HJ
    Circ Cardiovasc Genet; 2013 Aug; 6(4):327-36. PubMed ID: 23863954
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.
    Liu JS; Fan LL; Li JJ; Xiang R
    Am J Cardiol; 2017 May; 119(9):1485-1489. PubMed ID: 28256248
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 23858024
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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;
    J Am Coll Cardiol; 2010 Feb; 55(6):587-97. PubMed ID: 20152563
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
    Brodehl A; Weiss J; Debus JD; Stanasiuk C; Klauke B; Deutsch MA; Fox H; Bax J; Ebbinghaus H; Gärtner A; Tiesmeier J; Laser T; Peterschröder A; Gerull B; Gummert J; Paluszkiewicz L; Milting H
    J Mol Cell Cardiol; 2020 Apr; 141():17-29. PubMed ID: 32201174
    [TBL] [Abstract][Full Text] [Related]  

  • 13. LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort.
    Kato K; Takahashi N; Fujii Y; Umehara A; Nishiuchi S; Makiyama T; Ohno S; Horie M
    J Cardiol; 2016 Oct; 68(4):346-51. PubMed ID: 26620845
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 20864495
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
    Lorenzon A; Pilichou K; Rigato I; Vazza G; De Bortoli M; Calore M; Occhi G; Carturan E; Lazzarini E; Cason M; Mazzotti E; Poloni G; Mostacciuolo ML; Daliento L; Thiene G; Corrado D; Basso C; Bauce B; Rampazzo A
    Am J Cardiol; 2015 Oct; 116(8):1245-51. PubMed ID: 26310507
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation.
    Al-Sabeq B; Krahn AD; Conacher S; Klein GJ; Laksman Z
    Can J Cardiol; 2014 Jun; 30(6):696.e1-3. PubMed ID: 24793512
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
    Lorenzon A; Beffagna G; Bauce B; De Bortoli M; Li Mura IE; Calore M; Dazzo E; Basso C; Nava A; Thiene G; Rampazzo A
    Am J Cardiol; 2013 Feb; 111(3):400-5. PubMed ID: 23168288
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.
    Forleo C; Carmosino M; Resta N; Rampazzo A; Valecce R; Sorrentino S; Iacoviello M; Pisani F; Procino G; Gerbino A; Scardapane A; Simone C; Calore M; Torretta S; Svelto M; Favale S
    PLoS One; 2015; 10(4):e0121723. PubMed ID: 25837155
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.
    Roux-Buisson N; Gandjbakhch E; Donal E; Probst V; Deharo JC; Chevalier P; Klug D; Mansencal N; Delacretaz E; Cosnay P; Scanu P; Extramiana F; Keller D; Hidden-Lucet F; Trapani J; Fouret P; Frank R; Fressart V; Fauré J; Lunardi J; Charron P
    Heart Rhythm; 2014 Nov; 11(11):1999-2009. PubMed ID: 25041964
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.
    van Hengel J; Calore M; Bauce B; Dazzo E; Mazzotti E; De Bortoli M; Lorenzon A; Li Mura IE; Beffagna G; Rigato I; Vleeschouwers M; Tyberghein K; Hulpiau P; van Hamme E; Zaglia T; Corrado D; Basso C; Thiene G; Daliento L; Nava A; van Roy F; Rampazzo A
    Eur Heart J; 2013 Jan; 34(3):201-10. PubMed ID: 23136403
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.