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Contents Preface v Contributors ix 1 Introduction D. Woodrow Benson 1 2 Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis Deborah A. McDermott, Craig T. Basson, and Cathy J. Hatcher x 3 Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome Deborah A. Driscoll xx 4 Mutation Screening for the Genes Causing Cardiac Arrhythmias Jeffrey A. Towbin xx 5 The Molecular Genetics of Marfan Syndrome Paul Coucke, Petra Van Acker, and Anne De Paepe xx 6 Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE Analysis Navaratnam Elanko and Steve Jeffery xx 7 Williams-Beuren Syndrome Lucy Osborne, Ann M. Joseph-George, and Stephen W. Scherer xx 8 Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis May Tassabehji and Zsolt Urban xx 9 "Chip"-ping Away at Heart Failure J. David Barrans and Choong-Chin Liew xxx 10 Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Alex V. Postma, Zahurul A. Bhuiyan, and Hennie Bikker xxx 11 Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens Aristotelis Astrinidis and Elizabeth Petri Henske xxx 12 Friedreich Ataxia Massimo Pandolfo xxx 13 The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations Elizabeth Goldmuntz, Elizabeth Moore, and Nancy Spinner xxx 14 Array Analysis Applied to Malformed Hearts: Molecular Dissection of Tetralogy of Fallot Silke Sperling xxx 15 DNA Mutational Analysis in Heterotaxy Stephanie Ware xxx 16 Use of Denaturing High Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies Amy J. Sehnert xxx Index xxx
Library of Congress Subject Headings for this publication:
Congenital heart disease -- Molecular diagnosis.
Congenital heart disease -- Genetic aspects.
Heart -- Diseases -- Molecular diagnosis.
Heart -- Diseases -- Genetic aspects.
Molecular diagnosis.
Heart Defects, Congenital -- diagnosis.
Diagnostic Techniques, Cardiovascular.
Heart Defects, Congenital -- genetics.
Molecular Biology -- methods.