Literature DB >> 20832651

Clinical screening and genetic testing.

Rahul C Deo1, Calum A MacRae.   

Abstract

Clinical screening is most effective in diseases in which the disease is in its earliest form and may not have symptoms or signs but can be readily diagnosed with an inexpensive, noninvasive test. This article discusses the general principles of genetic disease architecture that can guide screening and diagnostic approaches for all of the cardiomyopathies and inherited diseases. It addresses how the genetic architecture of the trait guides, and how clinical characteristics of the disease influence, a clinical screening approach.
Copyright © 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20832651      PMCID: PMC4308415          DOI: 10.1016/j.cll.2010.07.003

Source DB:  PubMed          Journal:  Clin Lab Med        ISSN: 0272-2712            Impact factor:   1.935


  38 in total

1.  Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.

Authors:  A P Fitzpatrick; L M Shapiro; A F Rickards; P A Poole-Wilson
Journal:  Br Heart J       Date:  1990-02

2.  Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia.

Authors:  Jonathan P Piccini; Darshan Dalal; Ariel Roguin; Chandra Bomma; Alan Cheng; Kalpana Prakasa; Jun Dong; Crystal Tichnell; Cynthia James; Stuart Russell; Jane Crosson; Ronald D Berger; Joseph E Marine; Gordon Tomaselli; Hugh Calkins
Journal:  Heart Rhythm       Date:  2005-11       Impact factor: 6.343

Review 3.  Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

Authors:  L Mestroni; B Maisch; W J McKenna; K Schwartz; P Charron; C Rocco; F Tesson; A Richter; A Wilke; M Komajda
Journal:  Eur Heart J       Date:  1999-01       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

Review 5.  Arrhythmogenic right-ventricular dysplasia/cardiomyopathy.

Authors:  Hugh Calkins
Journal:  Curr Opin Cardiol       Date:  2006-01       Impact factor: 2.161

6.  Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital.

Authors:  Stefan Peters; Martina Trümmel; Werner Meyners
Journal:  Int J Cardiol       Date:  2004-12       Impact factor: 4.164

Review 7.  Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy.

Authors:  Barry J Maron; J G Seidman; Christine E Seidman
Journal:  J Am Coll Cardiol       Date:  2004-12-07       Impact factor: 24.094

8.  Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.

Authors:  Barbara Bauce; Cristina Basso; Alessandra Rampazzo; Giorgia Beffagna; Luciano Daliento; Gianfranco Frigo; Sandro Malacrida; Luca Settimo; GianAntonio Danieli; Gaetano Thiene; Andrea Nava
Journal:  Eur Heart J       Date:  2005-06-07       Impact factor: 29.983

9.  Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Authors:  Jan D Marshall; Elizabeth G Hinman; Gayle B Collin; Sebastian Beck; Rita Cerqueira; Pietro Maffei; Gabriella Milan; Weidong Zhang; David I Wilson; Tom Hearn; Purificação Tavares; Roberto Vettor; Caterina Veronese; Mitchell Martin; W Venus So; Patsy M Nishina; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

10.  Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984.

Authors:  M B Codd; D D Sugrue; B J Gersh; L J Melton
Journal:  Circulation       Date:  1989-09       Impact factor: 29.690

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  1 in total

Review 1.  Genetic testing in cardiovascular diseases.

Authors:  Anne-Karin Arndt; Calum A MacRae
Journal:  Curr Opin Cardiol       Date:  2014-05       Impact factor: 2.161

  1 in total

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