Congenital Heart Disease: Molecular Diagnostics

Front Cover
Mary Kearns-Jonker
Springer Science & Business Media, 2006 - Medical - 278 pages
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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.
 

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Contents

Introduction
1
Genetics of Cardiac Septation Defects and Their PreImplantation Diagnosis
19
Molecular and Genetic Aspects of DiGeorgeVelocardiofacial Syndrome
43
Mutation Screening for the Genes Causing Cardiac Arrhythmias
57
Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome
81
Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE
97
WilliamsBeuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization
113
Congenital Heart Disease Molecular Diagnostics of Supravalvular Aortic Stenosis
129
Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing HighPerformance Liquid Chromatography and...
171
Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens
185
Friedreich Ataxia Detection of GAA Repeat Expansions and Frataxin Point Mutations
197
The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations
217
Array Analysis Applied to Malformed Hearts Molecular Dissection of Tetralogy of Fallot
233
DNA Mutation Analysis in Heterotaxy
247
Use of Denaturing HighPerformance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies
257
Index
271

Chipping Away at Heart Failure
157

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