LEADER 05257nam 2200613 450 001 9910815659203321 005 20230807204520.0 010 $a1-61705-178-0 035 $a(CKB)2670000000573350 035 $a(EBL)1827580 035 $a(SSID)ssj0001367598 035 $a(PQKBManifestationID)12538086 035 $a(PQKBTitleCode)TC0001367598 035 $a(PQKBWorkID)11444932 035 $a(PQKB)11058328 035 $a(MiAaPQ)EBC1827580 035 $a(Au-PeEL)EBL1827580 035 $a(CaPaEBR)ebr10962305 035 $a(CaONFJC)MIL655047 035 $a(OCoLC)894629983 035 $a(EXLCZ)992670000000573350 100 $a20150105h20152015 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aCardiovascular genetics and genomics in clinical practice /$feditors, Sanjiv J. Shah, Donna K. Arnett 210 1$aNew York :$cdemosMEDICAL,$d2015. 210 4$dŠ2015 215 $a1 online resource (326 p.) 300 $aDescription based upon print version of record. 311 $a1-62070-014-X 311 $a1-322-23767-0 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aCover; 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 327 $aConcordance of MZ Versus DZ TwinsTwins 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 327 $aCharacterizing DNA Variants Found within GenesReferences; 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; Conclusions; References 327 $aChapter 8: Whole-Exome and Whole-Genome SequencingTake 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 327 $aThe Promise and Challenges of Gene-Environment Interaction ResearchSummary; 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 327 $aCase Study: Severe Monogenic Hypertension-An Application of Whole-Exome Sequencing 330 $aCardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand ""primer"" of basic scientific concepts regarding cardiovascular genetics and genomics fol 606 $aHeart$xDiseases$xGenetic aspects 615 0$aHeart$xDiseases$xGenetic aspects. 676 $a616.1/2042 702 $aShah$b Sanjiv 702 $aArnett$b Donna K. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910815659203321 996 $aCardiovascular genetics and genomics in clinical practice$94060174 997 $aUNINA LEADER 01023nam0-2200301 --450 001 9910696101403321 005 20250331141303.0 010 $a88-555-2831-9 020 $aIT$b2006-1222 100 $a20230511d2005----kmuy0itay5050 ba 101 0 $aita 102 $aIT 105 $a 001yy 200 1 $aBibliografia senecana del 20. secolo$fAndrea Balbo ... 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