Description
Springer Congenital Heart Disease Molecular Diagnostics by Mary Kearns-Jonker
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._x000D_ _x000D_Introduction_x000D_
D. Woodrow Benson_x000D_
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Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis_x000D_
Deborah A. McDermott, Craig T. Basson, and Cathy J. Hatcher_x000D_
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Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome_x000D_
Deborah A. Driscoll_x000D_
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Mutation Screening for the Genes Causing Cardiac Arrhythmias_x000D_
Jeffrey A. Towbin_x000D_
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Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome_x000D_
Paul Coucke, Petra Van Acker, and Anne De Paepe_x000D_
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Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE_x000D_
Navaratnam Elanko and Steve Jeffery_x000D_
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Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization_x000D_
Lucy R. Osborne, Ann M. Joseph-George, and Stephen W. Scherer_x000D_
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Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis_x000D_
May Tassabehji and Zsolt Urban_x000D_
_x000D_
Chipping Away at Heart Failure_x000D_
J. David Barrans and Choong-Chin Liew_x000D_
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Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing_x000D_
Alex V. Postma, Zahurul A. Bhuiyan, and Hennie Bikker_x000D_
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Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens_x000D_
Aristotelis Astrinidis and Elizabeth Petri Henske_x000D_
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Friedreich Ataxia: Detection of GAA Repeat Expansions and Frataxin Point Mutations_x000D_
Massimo Pandolfo_x000D_
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The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations_x000D_
Elizabeth Goldmuntz, Elizabeth Moore, and Nancy B. Spinner_x000D_
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Array Analysis Applied to Malformed Hearts: Molecular Dissection of Tetralogy of Fallot_x000D_
Silke Sperling_x000D_
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DNA Mutation Analysis in Heterotaxy_x000D_
Stephanie M. Ware_x000D_
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Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies_x000D_
Amy J. Sehnert_x000D_
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Index_x000D_