Congenital Heart Disease: Molecular Diagnostics
Springer Science & Business Media, 2006 - Medical - 278 pages
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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Genetics of Cardiac Septation Defects and Their PreImplantation Diagnosis
Molecular and Genetic Aspects of DiGeorgeVelocardiofacial Syndrome
Mutation Screening for the Genes Causing Cardiac Arrhythmias
Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome
Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE
WilliamsBeuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization
Congenital Heart Disease Molecular Diagnostics of Supravalvular Aortic Stenosis
Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing HighPerformance Liquid Chromatography and...
Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens
Friedreich Ataxia Detection of GAA Repeat Expansions and Frataxin Point Mutations
The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations
Array Analysis Applied to Malformed Hearts Molecular Dissection of Tetralogy of Fallot
DNA Mutation Analysis in Heterotaxy
Use of Denaturing HighPerformance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies
Chipping Away at Heart Failure
Other editions - View all
abnormalities Alagille syndrome alleles amplicon amplification analyzed annealing anomalies aortic approx array arrhythmias atrial autosomal-dominant AVSD buffer cardiac cardiomyopathy cardiovascular cause cDNA cells CHMs chromosome clinical clones Congenital Heart Disease conotruncal CPVT cycles deletion denaturing high-performance liquid DGS/VCFS dH2O DHPLC analysis diagnosis DiGeorge syndrome direct sequencing disorder DNA sequencing electrophoresis ethanol exon FBN1 fluorescent frataxin Friedreich ataxia gene expression Genet genomic genomic DNA heteroduplex heterozygous human hybridization identified Incubate individuals intron Invitrogen JAG1 JAG1 mutations KCNQ1 labeled long QT syndrome LQTS malformations Marfan syndrome method microarray missense Molecular Diagnostics mutation analysis mutation detection Noonan syndrome normal oligonucleotide patients PCR products PCR reaction Pediatr performed phenotype plate polymorphic ventricular primer probe protein Protocols region RYR2 samples screening septal defects slide solution SSCP stenosis Subheading SVAS TBX5 temperature testing tion tissue transcription TSC1 tube ZIC3