Cardiovascular Genetics and Genomics in Clinical Practice. (Record no. 42471)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 08961nam a22004693i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC1827580 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240729123141.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d | |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu|||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240724s2014 xx o ||||0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781617051784 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781620700143 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC1827580 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL1827580 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaPaEBR)ebr10962305 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaONFJC)MIL655047 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)894629983 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | MiAaPQ |
| Language of cataloging | eng |
| Description conventions | rda |
| -- | pn |
| Transcribing agency | MiAaPQ |
| Modifying agency | MiAaPQ |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC682 .S384 2014 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Arnett, Donna K. |
| 245 10 - TITLE STATEMENT | |
| Title | Cardiovascular Genetics and Genomics in Clinical Practice. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | New York : |
| Name of producer, publisher, distributor, manufacturer | Springer Publishing Company, Incorporated, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2014. |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | ©2014. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (326 pages) |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Cover -- Title -- Copyright -- Contents -- Contributors -- Preface -- References -- Video Captions -- Share Cardiovascular Genetics and Genomics in Clinical Practice -- Part I: Genetics and Genomics: The Basics -- Chapter 1: Mendelian Genetics -- Take Home Points -- Mendel's Laws -- Modes of Inheritance -- Methods Used to Determine Modes of Inheritance -- Clinical Utility of Genetic Information -- Glossary -- References -- Chapter 2: Genetics of Complex Traits -- Take Home Points -- Quantitative Traits -- Familial Aggregation -- Measuring Familial Aggregation -- Concordance Versus Discordance -- Allele Sharing -- Twin Studies -- Concordance of MZ Versus DZ Twins -- Twins Reared Apart -- Limitations of Twin Studies -- Heritability -- Conclusions -- References -- Chapter 3: Genome-Wide Association Studies -- Take Home Points -- Why do we Need GWAS? -- Genetic Basis of GWAS -- Simple GWAS -- Beyond GWAS Basics: Challenges and Limitations -- Limitations of GWAS -- Using GWAS Results -- GWAS Success in Cardiovascular Disease -- Summary -- Glossary -- References -- Chapter 4: Bioinformatics -- Take Home Points -- Following Up on Linkage Analyses -- Following Up on Genome-Wide Association Studies -- Obtaining Information on Candidate Genes -- Characterizing DNA Variants Found within Genes -- References -- Chapter 5: Epigenetics -- Take Home Points -- DNA Methylation -- Histone Modifications -- Challenges and Opportunities for Human CVD Epigenetic Studies -- References -- Chapter 6: MicroRNAs -- Take Home Points -- MicroRNA Structure and Function -- MicroRNA and Cardiac Function -- MicroRNA as Biomarkers -- MicroRNA Therapeutics -- Conclusions -- References -- Chapter 7: Gene Expression -- Take Home Points -- Microarray Technology -- Quality Control -- Data Normalization -- Data Analysis -- Ontology and Pathway Analysis -- Validation and Meta-Analysis. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Conclusions -- References -- Chapter 8: Whole-Exome and Whole-Genome Sequencing -- Take Home Points -- Overview of Exome Chip, WES, and WGS Technologies -- Available Strategies for the Conduct of WES Studies -- Application of WES to Cardiovascular Disease -- Next-Generation Sequencing Technologies for Clinical Diagnostics -- Future Directions -- Conclusions -- References -- Chapter 9: Gene-Environment Interactions -- Take Home Points -- Defining Interactions -- Investigating Interactions: Study Design -- Investigating Interactions: Statistical Power -- Gene-Environment Interactions in Cardiovascular Disease -- The Promise and Challenges of Gene-Environment Interaction Research -- Summary -- References -- Chapter 10: Genetic Counseling -- Take Home Points -- Definition of Genetic Counseling -- The Power of the Pedigree and Family Health History -- Risk Assessment Beyond Basic Mendelian Principle -- Psychosocial Counseling -- Genetic Counselors in Cardiovascular Practice -- Cardiovascular Genetic Testing -- Partners in Practice -- Conclusions -- References -- Part II: Genetics of Cardiovascular Disorders/Traits -- Chapter 11: Blood Pressure Genomics -- Take Home Points -- Case Study: Severe Monogenic Hypertension-An Application of Whole-Exome Sequencing -- Monogenic BP Disorders -- Genomics of BP as a Complex Trait -- The Future of BP Genomics Research -- Conclusions -- References -- Chapter 12: Genetics of Electrocardiographic Traits -- Take Home Points -- Case Presentation -- Genetic Architecture of Complex ECG Traits -- Ion-Channel Candidate Genes Associated with ECG Traits -- Loci Associated with the PR Interval -- Loci Associated with the QRS Interval -- Loci Associated with the QT Interval -- Loci Associated with Early Repolarization -- Loci Associated with Heart Rate (RR Interval) -- Case Resolution -- Conclusions -- References. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Chapter 13: Atrial Fibrillation Genetics and Genomics -- Take Home Points -- Case Study -- AF Heritability and Genetic Basis for AF -- AF Risk Prediction -- Future Directions -- "Omics" of AF -- Systems Biology-Application to AF -- From the Bench to the Bedside: Integrating Genetic Information into Clinical Practice -- Conclusions -- References -- Chapter 14: Inherited Ventricular Arrhythmias -- Take Home Points -- Case Study -- Long QT Syndrome (LQTS) -- Brugada Syndrome (BrS) -- Catecholaminergic Polymorphic VT (CPVT) -- Short QT Syndrome (SQTS) -- Conclusions -- References -- Chapter 15: Genetics of Cardiac Structure and Function -- Take Home Points -- Case Studies -- Why Study the Genetics of Cardiac Structure and Function? -- Challenges of Accurate Phenotyping of Cardiac Structure and Function -- Heritability of Indices of Cardiac Structure and Function -- Genetics of Cardiac Structure and Function: Published Studies -- Future Directions -- Conclusions -- References -- Chapter 16: Genetics of Heart Failure -- Take Home Points -- Case Study -- Genetic Basis of Cardiomyopathies -- The Genetic Basis of Idiopathic DCM and Heart Failure at the Population Level (Heart Failure as Polygenic Trait) -- Additional Molecular Investigations to Gain Insight into the Biological Basis of Heart Failure Risk -- Summary -- References -- Chapter 17: Inherited Cardiomyopathies -- Take Home Points -- Case Study -- Hypertrophic Cardiomyopathy -- Metabolic Cardiomyopathies -- Restrictive Cardiomyopathy -- Dilated Cardiomyopathy -- Left Ventricular Noncompaction -- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy -- The Future of Genetics in Cardiomyopathy Research and Clinical Practice -- References -- Chapter 18: Genetics of Pulmonary Hypertension -- Take Home Points -- Case Study -- Overview of Pulmonary Hypertension. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Overview of Pulmonary Hypertension Genetics -- BMPR2 And TGF-BETA -- Caveolin-1 -- Cerebellin-2 -- Prostacyclin -- Calcium Signaling -- Nitric Oxide and Reactive Oxygen Species -- Endothelin-1 -- Sex Hormones -- Serotonin -- Kv Channels -- Nongroup I PH and Other Pathways -- Encode Era -- MRNA Expression Profiling -- MicroRNA Expression Profiling -- Epigenetics -- Genetic Testing -- Conclusions -- References -- Chapter 19: Genetics of Blood Lipids, Lipoproteins, and Related Phenotypes -- Take Home Points -- Case Study -- Single-Gene Lipid Diseases -- Complex Diseases and Phenotypes -- Sequencing Studies and the Role of Rare Variants -- Epigenetics -- Refining Lipid Phenotypes -- Conclusions -- References -- Chapter 20: Genetic Applications in Coronary Artery Disease -- Take Home Points -- Case Study #1 -- Tier 1: Genetic Testing in Familial Hypercholesterolemia -- Case Study #2 -- Tier 2 Applications: Pharmacogenomics -- Case Study #3 -- Tier 3 Applications: Cad Genetic Risk Factors -- Future Directions -- Conclusions -- References -- Chapter 21: Genetics of Valvular Heart Disease -- Take Home Points -- Case Study -- Aortic Valve Disease -- Mitral Valve Disease -- Conclusions -- References -- Chapter 22: Genetics of Congenital Heart Disease -- Take Home Points -- Cardiac Malformations Associated with Chromosomal Aneuploidy -- Syndromic and Nonsyndromic CHD Associated with Single-Gene Mutations -- Copy Number Variations in Congenital Heart Disease -- The Role of Single Nucleotide Polymorphisms in Congenital Heart Disease -- Future Directions -- Clinical Applications -- References -- Index. |
| 588 ## - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Description based on publisher supplied metadata and other sources. |
| 590 ## - LOCAL NOTE (RLIN) | |
| Local note | Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart -- Diseases -- Genetic aspects. |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shah, Sanjiv J. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Main entry heading | Arnett, Donna K. |
| Title | Cardiovascular Genetics and Genomics in Clinical Practice |
| Place, publisher, and date of publication | New York : Springer Publishing Company, Incorporated,c2014 |
| International Standard Book Number | 9781620700143 |
| 797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN) | |
| Corporate name or jurisdiction name as entry element | ProQuest (Firm) |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=1827580">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=1827580</a> |
| Public note | Click to View |
No items available.