Literature DB >> 23736219

Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC).

Wouter P Te Rijdt1, Jan Dh Jongbloed2, Rudolf A de Boer3, Gaetano Thiene4, Cristina Basso4, Maarten P van den Berg3, J Peter van Tintelen2.   

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Year:  2013        PMID： 23736219      PMCID： PMC3895643          DOI： 10.1038/ejhg.2013.124

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  26 in total

1.  Safety of endomyocardial biopsy in patients with arrhythmogenic right ventricular cardiomyopathy: a study analyzing 161 diagnostic procedures.

Authors:  Matthias Paul; Jörg Stypmann; Joachim Gerss; Sophia Wirdeier; Sven Zumhagen; Günter Breithardt; Eric Schulze-Bahr; Thomas Wichter
Journal:  JACC Cardiovasc Interv       Date:  2011-10       Impact factor: 11.195

Review 2.  DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.

Authors:  Sarah Wordsworth; José Leal; Edward Blair; Rosa Legood; Kate Thomson; Anneke Seller; Jenny Taylor; Hugh Watkins
Journal:  Eur Heart J       Date:  2010-03-18       Impact factor: 29.983

3.  A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  Paul A van der Zwaag; Jan D H Jongbloed; Maarten P van den Berg; Jasper J van der Smagt; Roselie Jongbloed; Hennie Bikker; Robert M W Hofstra; J Peter van Tintelen
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

4.  Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.

Authors:  Frank I Marcus; William J McKenna; Duane Sherrill; Cristina Basso; Barbara Bauce; David A Bluemke; Hugh Calkins; Domenico Corrado; Moniek G P J Cox; James P Daubert; Guy Fontaine; Kathleen Gear; Richard Hauer; Andrea Nava; Michael H Picard; Nikos Protonotarios; Jeffrey E Saffitz; Danita M Yoerger Sanborn; Jonathan S Steinberg; Harikrishna Tandri; Gaetano Thiene; Jeffrey A Towbin; Adalena Tsatsopoulou; Thomas Wichter; Wojciech Zareba
Journal:  Eur Heart J       Date:  2010-02-19       Impact factor: 29.983

5.  Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.

Authors:  Srijita Sen-Chowdhry; Petros Syrris; Deirdre Ward; Angeliki Asimaki; Elias Sevdalis; William J McKenna
Journal:  Circulation       Date:  2007-03-19       Impact factor: 29.690

6.  Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  J Peter van Tintelen; Mark M Entius; Zahurul A Bhuiyan; Roselie Jongbloed; Ans C P Wiesfeld; Arthur A M Wilde; Jasper van der Smagt; Ludolf G Boven; Marcel M A M Mannens; Irene M van Langen; Robert M W Hofstra; Luuk C Otterspoor; Pieter A F M Doevendans; Luz-Maria Rodriguez; Isabelle C van Gelder; Richard N W Hauer
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

Review 7.  Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Authors:  Polakit Teekakirikul; Melissa A Kelly; Heidi L Rehm; Neal K Lakdawala; Birgit H Funke
Journal:  J Mol Diagn       Date:  2012-12-27       Impact factor: 5.568

8.  Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Authors:  P A van der Zwaag; M G P J Cox; C van der Werf; A C P Wiesfeld; J D H Jongbloed; D Dooijes; H Bikker; R Jongbloed; A J H Suurmeijer; M P van den Berg; R M W Hofstra; R N W Hauer; A A M Wilde; J P van Tintelen
Journal:  Neth Heart J       Date:  2010-12       Impact factor: 2.380

9.  Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Authors:  Barbara Bauce; Andrea Nava; Giorgia Beffagna; Cristina Basso; Alessandra Lorenzon; Gessica Smaniotto; Marzia De Bortoli; Ilaria Rigato; Elisa Mazzotti; Alexandros Steriotis; Martina Perazzolo Marra; Jeffry A Towbin; Gaetano Thiene; Gian Antonio Danieli; Alessandra Rampazzo
Journal:  Heart Rhythm       Date:  2009-10-12       Impact factor: 6.343

10.  Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

Authors:  Giorgia Beffagna; Gianluca Occhi; Andrea Nava; Libero Vitiello; Andrea Ditadi; Cristina Basso; Barbara Bauce; Gianni Carraro; Gaetano Thiene; Jeffrey A Towbin; Gian Antonio Danieli; Alessandra Rampazzo
Journal:  Cardiovasc Res       Date:  2005-02-01       Impact factor: 10.787
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  9 in total

1.  "Awakening to" a new meaning of being at-risk for arrhythmogenic right ventricular cardiomyopathy: a grounded theory study.

Authors:  April Manuel; Fern Brunger
Journal:  J Community Genet       Date:  2015-01-27

Review 2.  Inherited cardiomyopathies.

Authors:  Jeffrey A Towbin
Journal:  Circ J       Date:  2014-09-02       Impact factor: 2.993

Review 3.  Genetics of inherited cardiomyopathies in Africa.

Authors:  Gasnat Shaboodien; Timothy F Spracklen; Stephen Kamuli; Polycarp Ndibangwi; Carla Van Niekerk; Ntobeko A B Ntusi
Journal:  Cardiovasc Diagn Ther       Date:  2020-04

Review 4.  Clinical Application of Genetic Testing in Heart Failure.

Authors:  Ana Morales; Ray Hershberger
Journal:  Curr Heart Fail Rep       Date:  2017-12

5.  Diagnosing ARVC in Pediatric Patients Applying the Revised Task Force Criteria: Importance of Imaging, 12-Lead ECG, and Genetics.

Authors:  Michael Steinmetz; Ulrich Krause; Peter Lauerer; Frank Konietschke; Randolph Aguayo; Christian Oliver Ritter; Andreas Schuster; Joachim Lotz; Thomas Paul; Wieland Staab
Journal:  Pediatr Cardiol       Date:  2018-05-12       Impact factor: 1.655

Review 6.  Heart failure: advanced development in genetics and epigenetics.

Authors:  Jian Yang; Wei-Wei Xu; Shen-Jiang Hu
Journal:  Biomed Res Int       Date:  2015-04-09       Impact factor: 3.411

7.  Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.

Authors:  Katharina Sielemann; Zaher Elbeck; Anna Gärtner; Andreas Brodehl; Caroline Stanasiuk; Henrik Fox; Lech Paluszkiewicz; Jens Tiesmeier; Stefan Wlost; Jan Gummert; Stefan P Albaum; Janik Sielemann; Ralph Knöll; Hendrik Milting
Journal:  Genes (Basel)       Date:  2020-11-28       Impact factor: 4.096

8.  Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy.

Authors:  Samira Kalayinia; Mohammad Mahdavi; Golnaz Houshmand; Mahshid Hesami; Maryam Pourirahim; Majid Maleki
Journal:  BMC Cardiovasc Disord       Date:  2022-08-06       Impact factor: 2.174

9.  No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Authors:  Edgar T Hoorntje; Anna Posafalvi; Petros Syrris; K Joeri van der Velde; Marieke C Bolling; Alexandros Protonotarios; Ludolf G Boven; Nuria Amat-Codina; Judith A Groeneweg; Arthur A Wilde; Nara Sobreira; Hugh Calkins; Richard N W Hauer; Marcel F Jonkman; William J McKenna; Perry M Elliott; Richard J Sinke; Maarten P van den Berg; Stephen P Chelko; Cynthia A James; J Peter van Tintelen; Daniel P Judge; Jan D H Jongbloed
Journal:  PLoS One       Date:  2018-08-30       Impact factor: 3.240
  9 in total

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