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Main description:
Prominent researchers and clinicians describe in detail all the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods.
Contents:
Introduction
D. Woodrow Benson
Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis
Deborah A. McDermott, Craig T. Basson, and Cathy J. Hatcher
Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome
Deborah A. Driscoll
Mutation Screening for the Genes Causing Cardiac Arrhythmias
Jeffrey A. Towbin
Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome
Paul Coucke, Petra Van Acker, and Anne De Paepe
Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE
Navaratnam Elanko and Steve Jeffery
Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization
Lucy R. Osborne, Ann M. Joseph-George, and Stephen W. Scherer
Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis
May Tassabehji and Zsolt Urban
'Chip'ping Away at Heart Failure
J. David Barrans and Choong-Chin Liew
Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing
Alex V. Postma, Zahurul A. Bhuiyan, and Hennie Bikker
Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens
Aristotelis Astrinidis and Elizabeth Petri Henske
Friedreich Ataxia: Detection of GAA Repeat Expansions and Frataxin Point Mutations
Massimo Pandolfo
The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations
Elizabeth Goldmuntz, Elizabeth Moore, and Nancy B. Spinner
Array Analysis Applied to Malformed Hearts: Molecular Dissection of Tetralogy of Fallot
Silke Sperling
DNA Mutation Analysis in Heterotaxy
Stephanie M. Ware
Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies
Amy J. Sehnert
Index
PRODUCT DETAILS
Publisher: Springer (Humana Press Inc.)
Publication date: October, 2014
Pages: 292
Weight: 450g
Availability: Available
Subcategories: Cardiovascular Medicine
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