Skip to main content
SpringerLink
Log in

Congenital Heart Disease

Molecular Diagnostics

  • Book
  • © 2006

Overview

Editors:
  1. Mary Kearns-Jonker

    1. Transplantation Biology Research Lab Division of Cardiothoracic Surgery Children’s Hospital of Los Angeles, Los Angeles, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

Part of the book series: Methods in Molecular Medicine (MIMM, volume 126)

This is a preview of subscription content, log in via an institution to check access.

Access this book

Log in via an institution
eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Licence this eBook for your library

Institutional subscriptions

Table of contents (16 protocols)

  1. Front Matter

    Pages i-x
    Download chapter PDF

  2. Introduction

    • D. Woodrow Benson
    Pages 1-18

  3. Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis

    • Deborah A. McDermott, Craig T. Basson, Cathy J. Hatcher
    Pages 19-42

  4. Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome

    • Deborah A. Driscoll
    Pages 43-55

  5. Mutation Screening for the Genes Causing Cardiac Arrhythmias

    • Jeffrey A. Towbin
    Pages 57-79

  6. Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome

    • Paul Coucke, Petra Van Acker, Anne De Paepe
    Pages 81-95

  7. Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE

    • Navaratnam Elanko, Steve Jeffery
    Pages 97-111

  8. Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization

    • Lucy R. Osborne, Ann M. Joseph-George, Stephen W. Scherer
    Pages 113-128

  9. Congenital Heart Disease

    • May Tassabehji, Zsolt Urban
    Pages 129-156

  10. “Chip”ping Away at Heart Failure

    • J. David Barrans, Choong-Chin Liew
    Pages 157-169

  11. Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing

    • Alex V. Postma, Zahurul A. Bhuiyan, Hennie Bikker
    Pages 171-183

  12. Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens

    • Aristotelis Astrinidis, Elizabeth Petri Henske
    Pages 185-196

  13. Friedreich Ataxia

    • Massimo Pandolfo
    Pages 197-216

  14. The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations

    • Elizabeth Goldmuntz, Elizabeth Moore, Nancy B. Spinner
    Pages 217-231

  15. Array Analysis Applied to Malformed Hearts

    • Silke Sperling
    Pages 233-246

  16. DNA Mutation Analysis in Heterotaxy

    • Stephanie M. Ware
    Pages 247-256

  17. Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies

    • Amy J. Sehnert
    Pages 257-270

  18. Back Matter

    Pages 271-278
    Download chapter PDF
Back to top

Keywords

About this book

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.

Editors and Affiliations

  • Transplantation Biology Research Lab Division of Cardiothoracic Surgery Children’s Hospital of Los Angeles, Los Angeles, USA

    Mary Kearns-Jonker

Bibliographic Information

  • Book Title: Congenital Heart Disease

  • Book Subtitle: Molecular Diagnostics

  • Editors: Mary Kearns-Jonker

  • Series Title: Methods in Molecular Medicine

  • DOI: https://doi.org/10.1385/159745088X

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2006

  • Hardcover ISBN: 978-1-58829-375-6Published: 06 April 2006

  • Softcover ISBN: 978-1-62703-856-0Published: 20 October 2014

  • eBook ISBN: 978-1-59745-088-1Published: 02 February 2008

  • Series ISSN: 1543-1894

  • Series E-ISSN: 1940-6037

  • Edition Number: 1

  • Number of Pages: X, 278

  • Topics: Cardiology

Publish with us

Policies and ethics

Back to top

Search

Navigation