Clinical cardiogenetics. (2016)

• Record Type: Book
• Further Information: Note: Hubert F. Baars, Pieter A.F.M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors.
• Other Names: Baars, H. F; Doevendans, Pieter A; Houweling, Arjan C; Tintelen, J. Peter van (Johannes Peter), 1964-
• Contents: Preface; Contents; Part I: Genetics; 1: Introduction to Molecular Genetics; Introduction; DNA, RNA and Proteins; Genetic Mutations; Genes in Families and Populations; Modes of Inheritance; Penetrance and Disease Expressivity; Genetic Heterogeneity; Multifactorial Inheritance; Molecular Genetic Techniques; From Past to Future; Cytogenetics; Molecular DNA Techniques; Next-Generation Sequencing; Analysis and Interpretation; Variant Classification; Data Quality Issues and NGS; Reporting of Results; Finding New Disease Genes; Clinical Genetic Diagnostics; References. 2: Clinical Genetics Introduction; The Clinical Genetic Intake; Family History; Pedigree Construction; Basic Concepts in Inherited Disease; Mitosis and Meiosis; Chromosomal Abnormalities; Inheritance Patterns; Single Gene Disorders: Mendelian Inheritance; Autosomal Dominant Inheritance; Autosomal Recessive Inheritance; X-Linked Recessive Inheritance; X-Linked Dominant Inheritance; Non-Mendelian Inheritance; Multifactorial Inheritance; Maternal (Mitochondrial) Inheritance; New (De Novo) Mutations; Mosaicism; On Penetrance and Variable Expressivity. Genotype-Phenotype Correlations Basic Concepts in Population Genetics; Hardy-Weinberg Equilibrium; Mutation-Selection Equilibrium; Founder Mutations; Genetic Isolates; Consanguinity; Genetic Testing; Genetic Counseling; Cardiac Genetic Counseling; Cardiac Genetic Testing; Pre and Posttest Genetic Counseling; Interpreting Genetic Test Results; Predictive Testing and the Dynamics of Family Studies; Predictive DNA Testing; Adverse Consequences of Predictive Testing; Predictive Testing in Minors; Conducting Family Studies; Prenatal Diagnosis. Risk Stratification for SCD Genetics of HCM and Genetic Testing; Screening of Relatives: Genetic Counseling and Testing; References; 5: Dilated Cardiomyopathy; Introduction; Clinical Presentation; Etiology of DCM; Clinical Diagnosis; Clinical Therapy; Molecular Diagnostics; Molecular Genetics; TTN; LMNA; Other Genes; Family Screening; Familial DCM and Affected Relatives; Screening of Relatives; Summary; References; 6: Arrhythmogenic Cardiomyopathy; Molecular and Genetic Background; Desmosomes and Other Intercalated Disc Structures. The Cardiogenetics Out-patient clinicReferences; Part II: Cardiomyopathies; 3: Introduction Hereditary Cardiomyopathies; Hypertrophic Cardiomyopathy; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Restrictive Cardiomyopathy; Non-compaction cardiomyopathy; References; 4: Hypertrophic Cardiomyopathy; Introduction; Diagnosis; Disease Presentation: Histopathology, the Cardiac Sarcomere, Pathophysiology, and Symptoms; Histopathology; The Cardiac Sarcomere and Pathophysiology; Symptoms; Clinical Management; Treatment of Symptoms and Prevention of Complications.
• Edition: 2nd ed
• Publisher Details: Cham : Springer
• Publication Date: 2016
• Extent: 1 online resource (391 pages)
• Subjects: 616.1042; Medicine; Cardiovascular system -- Diseases -- Genetic aspects; Cardiovascular Diseases -- genetics; Genetic Predisposition to Disease; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Cardiovascular system -- Diseases -- Genetic aspects; Medicine & Public Health; Cardiology; Human Genetics; Medical -- Genetics; Medical genetics; Cardiology; Human genetics; Medical -- Cardiology; Cardiovascular medicine; Electronic books
• Languages: English
• ISBNs: 9783319442037; 3319442031
• Related ISBNs: 9783319442020; 3319442023
• Notes: Note: Includes bibliographical references at the end of each chapters.; Note: Print version record.
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.