Coverart for item
The Resource Congenital heart disease : molecular diagnostics, edited by Mary Kearns-Jonker

Congenital heart disease : molecular diagnostics, edited by Mary Kearns-Jonker

Label
Congenital heart disease : molecular diagnostics
Title
Congenital heart disease
Title remainder
molecular diagnostics
Statement of responsibility
edited by Mary Kearns-Jonker
Contributor
Subject
Language
eng
Summary
Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail 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. The protocols follow the successful Methods in Molecular Medicine series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls. Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease
Member of
Cataloging source
COO
Dewey number
616.1/042
Illustrations
illustrations
Index
index present
Language note
English
LC call number
RC687
LC item number
.C666 2006
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
NLM call number
  • WG 220
  • W1
NLM item number
  • C7543 2006
  • ME9616JM v.126 2006
http://library.link/vocab/relatedWorkOrContributorName
Kearns-Jonker, Mary
Series statement
Methods in molecular medicine
Series volume
126
http://library.link/vocab/subjectName
  • Congenital heart disease
  • Congenital heart disease
  • Heart
  • Heart
  • Molecular diagnosis
  • Heart Defects, Congenital
  • Diagnostic Techniques, Cardiovascular
  • Heart Defects, Congenital
  • Molecular Biology
  • MEDICAL
  • Heart
  • Molecular diagnosis
Label
Congenital heart disease : molecular diagnostics, edited by Mary Kearns-Jonker
Instantiates
Publication
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
  • 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 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 Spinner -- Array analysis applied to malformed hearts: molecular dissection of tetralogy of fallot / Silke Sperling -- DNA mutation analysis in heterotaxy / Stephanie Ware -- Use of denaturing high-performance liquid chromatography to detect mutations in pediatric cardiomyopathies / Amy J. Sehnert
Control code
178265783
Dimensions
unknown
Extent
1 online resource (x, 278 pages)
Form of item
online
Isbn
9781280832949
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other control number
10.1385/159745088X.
Other physical details
illustrations (some color).
http://library.link/vocab/ext/overdrive/overdriveId
83294
Specific material designation
remote
System control number
(OCoLC)178265783
Label
Congenital heart disease : molecular diagnostics, edited by Mary Kearns-Jonker
Publication
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
  • 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 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 Spinner -- Array analysis applied to malformed hearts: molecular dissection of tetralogy of fallot / Silke Sperling -- DNA mutation analysis in heterotaxy / Stephanie Ware -- Use of denaturing high-performance liquid chromatography to detect mutations in pediatric cardiomyopathies / Amy J. Sehnert
Control code
178265783
Dimensions
unknown
Extent
1 online resource (x, 278 pages)
Form of item
online
Isbn
9781280832949
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other control number
10.1385/159745088X.
Other physical details
illustrations (some color).
http://library.link/vocab/ext/overdrive/overdriveId
83294
Specific material designation
remote
System control number
(OCoLC)178265783

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