Literature DB >> 29038109

Unraveling Missing Genes and Missing Inheritance in Arrhythmogenic Cardiomyopathy.

Suet Nee Chen1, Matthew Taylor1, Luisa Mestroni2.   

Abstract

Entities:  

Keywords:  Editorials; genetic testing; genetics; mutation; transforming growth factor beta3

Mesh：

Year:  2017        PMID： 29038109      PMCID： PMC5685673          DOI： 10.1161/CIRCEP.117.005813

Source DB:  PubMed          Journal:  Circ Arrhythm Electrophysiol        ISSN： 1941-3084


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  16 in total

Review 1.  Structural variation in the human genome.

Authors:  Lars Feuk; Andrew R Carson; Stephen W Scherer
Journal:  Nat Rev Genet       Date:  2006-02       Impact factor: 53.242

2.  Segmental copy number variation shapes tissue transcriptomes.

Authors:  Charlotte N Henrichsen; Nicolas Vinckenbosch; Sebastian Zöllner; Evelyne Chaignat; Sylvain Pradervand; Frédéric Schütz; Manuel Ruedi; Henrik Kaessmann; Alexandre Reymond
Journal:  Nat Genet       Date:  2009-03-08       Impact factor: 38.330

3.  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

4.  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

5.  Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.

Authors:  Kalliopi Pilichou; Elisabetta Lazzarini; Ilaria Rigato; Rudy Celeghin; Marzia De Bortoli; Marina Perazzolo Marra; Marco Cason; Jan Jongbloed; Martina Calore; Stefania Rizzo; Daniela Regazzo; Giulia Poloni; Sabino Iliceto; Luciano Daliento; Pietro Delise; Domenico Corrado; J Peter Van Tintelen; Gaetano Thiene; Alessandra Rampazzo; Cristina Basso; Barbara Bauce; Alessandra Lorenzon; Gianluca Occhi
Journal:  Circ Arrhythm Electrophysiol       Date:  2017-10

6.  Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

Authors:  Florian Kirchner; Anja Schuetz; Leif-Hendrik Boldt; Kristina Martens; Gunnar Dittmar; Wilhelm Haverkamp; Ludwig Thierfelder; Udo Heinemann; Brenda Gerull
Journal:  Circ Cardiovasc Genet       Date:  2012-07-09

7.  Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Authors:  Brenda Gerull; Arnd Heuser; Thomas Wichter; Matthias Paul; Craig T Basson; Deborah A McDermott; Bruce B Lerman; Steve M Markowitz; Patrick T Ellinor; Calum A MacRae; Stefan Peters; Katja S Grossmann; Jörg Drenckhahn; Beate Michely; Sabine Sasse-Klaassen; Walter Birchmeier; Rainer Dietz; Günter Breithardt; Eric Schulze-Bahr; Ludwig Thierfelder
Journal:  Nat Genet       Date:  2004-10-17       Impact factor: 38.330

Review 8.  Arrhythmogenic right ventricular cardiomyopathy 2012: diagnostic challenges and treatment.

Authors:  Frank I Marcus; Aiden Abidov
Journal:  J Cardiovasc Electrophysiol       Date:  2012-08-21

Review 9.  Arrhythmogenic right ventricular cardiomyopathy.

Authors:  Cristina Basso; Domenico Corrado; Frank I Marcus; Andrea Nava; Gaetano Thiene
Journal:  Lancet       Date:  2009-04-11       Impact factor: 79.321

10.  Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  A Dénise den Haan; Boon Yew Tan; Michelle N Zikusoka; Laura Ibañez Lladó; Rahul Jain; Amy Daly; Crystal Tichnell; Cynthia James; Nuria Amat-Alarcon; Theodore Abraham; Stuart D Russell; David A Bluemke; Hugh Calkins; Darshan Dalal; Daniel P Judge
Journal:  Circ Cardiovasc Genet       Date:  2009-06-03
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