000			03888nam a22003495i 4500
001			234816
003			ES-VaUE
005			20221220020626.0
007			cr nn 008mamaa
008			100301s2006 xxu| s |||| 0|eng d
020			_a9781597450881
024	7		_a10.1385/159745088X _2doi
040			_aES-MaUEC _bspa _cES-MaUEC
245	1	0	_aCongenital Heart Disease _bMolecular Diagnostics _cedited by Mary Kearns-Jonker.
250			_a1st edition 2006
264		1	_aTotowa, NJ _bHumana Press _c2006
300			_a1 recurso en línea (X, 278 páginas) _b
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
490	0		_aMethods in Molecular Medicine _x1940-6037 _v126
505	0		_aGenetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis -- Molecular and Genetic Aspects of DiGeorge/Velocardiofacial 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 -- Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization -- Congenital Heart Disease -- "Chip"ping Away at Heart Failure -- Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing -- Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens -- Friedreich Ataxia -- The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations -- Array Analysis Applied to Malformed Hearts -- DNA Mutation Analysis in Heterotaxy -- Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies.
520			_aRecent 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.
700	1		_aKearns-Jonker, Mary _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt
776	0	8	_iPrinted edition: _z9781588293756
776	0	8	_iPrinted edition: _z9781627038560
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1385/159745088X _z(usuarios Universidad Europea de Valencia)
942			_2lcc _cLE
988			_aSpringer_Protocols_2006
999			_c234816 _d234816