BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 26310507)

  • 1. 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]  

  • 2. 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]  

  • 3. Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.
    Wong JA; Duff HJ; Yuen T; Kolman L; Exner DV; Weeks SG; Gerull B
    J Am Heart Assoc; 2014 Dec; 3(6):e001407. PubMed ID: 25497880
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
    Simpson MA; Mansour S; Ahnood D; Kalidas K; Patton MA; McKenna WJ; Behr ER; Crosby AH
    Cardiology; 2009; 113(1):28-34. PubMed ID: 18957847
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
    Pilichou K; Lazzarini E; Rigato I; Celeghin R; De Bortoli M; Perazzolo Marra M; Cason M; Jongbloed J; Calore M; Rizzo S; Regazzo D; Poloni G; Iliceto S; Daliento L; Delise P; Corrado D; Van Tintelen JP; Thiene G; Rampazzo A; Basso C; Bauce B; Lorenzon A; Occhi G
    Circ Arrhythm Electrophysiol; 2017 Oct; 10(10):. PubMed ID: 29038103
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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; 115(13):1710-20. PubMed ID: 17372169
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestations.
    Rao M; Guo G; Li M; Chen S; Chen K; Chen X; Song J; Hu S
    Clin Genet; 2019 Dec; 96(6):532-540. PubMed ID: 31525260
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.
    Turkowski KL; Tester DJ; Bos JM; Haugaa KH; Ackerman MJ
    Congenit Heart Dis; 2017 Mar; 12(2):226-235. PubMed ID: 28326674
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
    Bauce B; Basso C; Rampazzo A; Beffagna G; Daliento L; Frigo G; Malacrida S; Settimo L; Danieli G; Thiene G; Nava A
    Eur Heart J; 2005 Aug; 26(16):1666-75. PubMed ID: 15941723
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 36(14):847-55. PubMed ID: 25616645
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 274():263-270. PubMed ID: 30454721
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
    Haywood AF; Merner ND; Hodgkinson KA; Houston J; Syrris P; Booth V; Connors S; Pantazis A; Quarta G; Elliott P; McKenna W; Young TL
    Eur Heart J; 2013 Apr; 34(13):1002-11. PubMed ID: 23161701
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 18(1):86. PubMed ID: 28818065
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.