Emery's Elements of Medical Genetics and Genomics

Lýsing:Long recognized as a leading textbook in this fast-moving field, Emery's Elements of...
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Emery's Elements of Medical Genetics and Genomics

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Rafbók til leigu í 30 daga. Útgáfa: 16

Efnisyfirlit

  • Cover image
  • Title page
  • Table of Contents
  • Copyright
  • Preface
  • Acknowledgments
  • Dedication
  • 1. The History and Impact of Genetics in Medicine
    • Abstract
    • Gregor Mendel and the Laws of Inheritance
    • DNA as the Basis of Inheritance
    • The Fruit Fly
    • The Origins of Medical Genetics
    • Major New Developments
    • The Societal Impact of Advances in Genetics
    • Databases
    • Further Reading
  • Section A: The Scientific Basis of Human Genetics
    • 2. The Cellular and Molecular Basis of Inheritance
      • Abstract
      • The Cell
      • DNA: The Hereditary Material
      • Chromosome Structure
      • Types of DNA Sequence
      • Transcription
      • Translation
      • The Genetic Code
      • Regulation of Gene Expression
      • RNA-Directed DNA Synthesis
      • Mutations
      • Mutations and Mutagenesis
      • Further Reading
    • 3. Chromosomes and Cell Division
      • Abstract
      • Human Chromosomes
      • Methods of Chromosome Analysis
      • Molecular Cytogenetics
      • Chromosome Nomenclature
      • Cell Division
      • Gametogenesis
      • Chromosome Abnormalities
      • Further Reading
    • 4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes
      • Position-Independent Identification of Human Disease Genes
      • Positional Cloning
      • The Human Genome Project
      • Identifying the Genetic Etiology of Monogenic Disorders by Next-Generation Sequencing
      • Further Reading
    • 5. Laboratory Techniques for Diagnosis of Monogenic Disorders
      • Abstract
      • Polymerase Chain Reaction
      • Application of DNA Sequence Polymorphisms
      • Nucleic Acid Hybridization Techniques
      • Mutation Detection
      • Sequencing-Based Methods
      • Dosage Analysis
      • Genome Sequencing as a Clinical Diagnostic Test
      • Further Reading
    • 6. Patterns of Inheritance
      • Abstract
      • Family Studies
      • Mendelian Inheritance
      • Multiple Alleles and Complex Traits
      • Anticipation
      • Mosaicism
      • Uniparental Disomy
      • Genomic Imprinting
      • Mitochondrial Inheritance
      • Further Reading
    • 7. Population and Mathematical Genetics
      • Abstract
      • Allele Frequencies in Populations
      • Genetic Polymorphism
      • Segregation Analysis
      • Genetic Linkage
      • Medical and Societal Intervention
      • Conclusion
      • Further Reading
    • 8. Risk Calculation
      • Abstract
      • Probability Theory
      • Autosomal Dominant Inheritance
      • Autosomal Recessive Inheritance
      • X-Linked Recessive Inheritance
      • The Use of Linked Markers
      • Bayes’ Theorem and Prenatal Screening
      • Empiric Risks
      • Further Reading
    • 9. Developmental Genetics
      • Abstract
      • Fertilization and Gastrulation
      • Developmental Gene Families
      • The Pharyngeal Arches
      • The Role of Cilia in Developmental Abnormalities
      • The Limb as a Developmental Model
      • Developmental Genes and Cancer
      • Positional Effects and Developmental Genes
      • Hydatidiform Moles
      • Epigenetics and Development
      • Sex Determination and Disorders of Sex Development
      • Twinning
      • Further Reading
  • Section B: Genetics in Medicine and Genomic Medicine
    • 10. Common Disease, Polygenic, and Multifactorial Genetics
      • Types and Mechanisms of Genetic Susceptibility
      • Approaches to Demonstrating Genetic Susceptibility to Common Diseases
      • Polygenic Inheritance and the Normal Distribution
      • Multifactorial Inheritance—the Liability/Threshold Model
      • Identifying Genes That Cause Multifactorial Disorders
      • Polygenic Risk Scores
      • Disease Models for Multifactorial Inheritance
      • Further Reading
    • 11. Screening for Genetic Disease
      • Abstract
      • Screening Those at High Risk
      • Carrier Testing for Autosomal Recessive and X-Linked Disorders
      • Presymptomatic Diagnosis of Autosomal Dominant Disorders
      • Ethical Considerations in Carrier Detection and Predictive Testing
      • Population Screening
      • Criteria for a Screening Program
      • Prenatal and Postnatal Screening
      • Population Carrier Screening
      • Genetic Registers
      • Further Reading
      • Websites
    • 12. Hemoglobin and the Hemoglobinopathies
      • Abstract
      • Structure of Hemoglobin
      • Developmental Expression of Hemoglobin
      • Globin Chain Structure
      • Synthesis and Control of Hemoglobin Expression
      • Disorders of Hemoglobin
      • Clinical Variation of the Hemoglobinopathies
      • Antenatal and Newborn Hemoglobinopathy Screening
      • Further Reading
      • Websites
    • 13. Immunogenetics
      • Abstract
      • Immunity
      • Innate Immunity
      • Specific Acquired Immunity
      • Inherited Immunodeficiency Disorders
      • Blood Groups
      • Further Reading
    • 14. The Genetics of Cancer…and Cancer Genetics
      • Abstract
      • Differentiation Between Genetic and Environmental Factors in Cancer
      • Oncogenes
      • Tumor Suppressor Genes
      • Epigenetics and Cancer
      • Genetics of Common Cancers
      • DNA Tumor Profiling, Mutational Signatures, and Tumor Mutational Burden
      • Inherited Cancer Syndromes
      • Genetic Counseling in Familial Cancer
      • Screening for Familial Cancer
      • What Treatment Is Appropriate?
      • Further Reading
    • 15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
      • Pharmacogenomics
      • Drug Metabolism
      • Genetic Variations Revealed by the Effects of Drugs
      • Precision Medicine
      • Treatment of Genetic Disease
      • Therapeutic Applications of Recombinant DNA Technology
      • Gene Therapy
      • RNA Modification
      • Targeted Gene Correction
      • Stem Cell Therapy
      • Further Reading
  • Section C: Clinical Genetics, Counseling, and Ethics
    • 16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability
      • Abstract
      • Incidence
      • Definition and Classification of Birth Defects
      • Genetic Causes of Malformations
      • Environmental Agents (Teratogens)
      • Malformations of Unknown Cause
      • Counseling
      • Intellectual Disability
      • Further Reading
    • 17. Chromosome Disorders
      • Abstract
      • Incidence of Chromosome Abnormalities
      • Disorders of the Sex Chromosomes
      • “Classic” Chromosome Deletion Syndromes
      • Chromosome Microarray/Microarray-Comparative Genomic Hybridization
      • Chromosome Disorders and Behavioral Phenotypes
      • Chromosome Breakage Syndromes
      • Indications for Chromosome Microarray Analysis
      • Further Reading
    • 18. Inborn Errors of Metabolism
      • Abstract
      • Disorders of Amino Acid and Peptide Metabolism
      • Disorders of Carbohydrate Metabolism
      • Disorders of Steroid Metabolism
      • Disorders of Lipid and Lipoprotein Metabolism
      • Lysosomal Storage Disorders
      • Disorders in the Metabolism of Purines, Pyrimidines, and Nucleotides
      • Disorders of Porphyrin and Heme Metabolism
      • Disorders in the Metabolism of Trace Elements and Metals
      • Peroxisomal Disorders
      • Disorders of Fatty Acid and Ketone Body Metabolism
      • Disorders of Energy Metabolism
      • Prenatal Diagnosis of Inborn Errors of Metabolism
      • Further Reading
    • 19. Mainstream Monogenic Disorders
      • Abstract
      • Neurological Disorders
      • CADASIL and Early-Onset Dementia
      • Inherited Peripheral Neuropathies
      • Motor Neurone Disease
      • Neurocutaneous Disorders
      • Muscular Dystrophies
      • Respiratory Disorders
      • Inherited Cardiac Conditions
      • Connective Tissue Disorders
      • Renal Disorders
      • Blood Disorders
      • Further Reading
    • 20. Prenatal Testing and Reproductive Genetics
      • Abstract
      • Techniques Used in Prenatal Diagnosis
      • Antenatal and Prenatal Screening
      • Indications for Prenatal Testing
      • Special Problems in Prenatal Diagnosis
      • Termination of Pregnancy
      • Preimplantation Genetic Diagnosis
      • Assisted Conception and Implications for Genetic Disease
      • Prenatal Treatment
      • Further Reading
    • 21. Genetic Counseling
      • Abstract
      • Definition
      • Establishing the Diagnosis
      • Calculating and Presenting the Risk
      • Discussing the Options
      • Communication and Support
      • Genetic Counseling—Directive or Non-directive?
      • Outcomes in Genetic Counseling
      • Special Issues in Genetic Counseling
      • Further Reading
    • 22. Ethical and Legal Issues in Medical Genetics
      • Abstract
      • General Principles
      • Ethical Dilemmas in the Genetics Clinic
      • Ethical Dilemmas and the Public Interest
      • Conclusion
      • Further Reading
  • Glossary
  • Appendix: Websites and Clinical Databases
    • General Genetic Websites
    • Human Genome Websites
    • Molecular Genetics Websites
    • Cytogenetics Websites
    • Educational Human Genetics Websites
    • Human Genetics Societies
    • Clinical Databases
    • Other Resources
  • Multiple-Choice Questions
    • CHAPTER 2: The Cellular and Molecular Basis of Inheritance
    • CHAPTER 3: Chromosomes and Cell Division
    • CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes
    • CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders
    • CHAPTER 6: Patterns of Inheritance
    • CHAPTER 7: Population and Mathematical Genetics
    • CHAPTER 8: Risk Calculation
    • CHAPTER 9: Developmental Genetics
    • CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
    • CHAPTER 11: Screening for Genetic Disease
    • CHAPTER 12: Hemoglobin and the Hemoglobinopathies
    • CHAPTER 13: Immunogenetics
    • CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
    • CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
    • CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
    • CHAPTER 17: Chromosome Disorders
    • CHAPTER 18: Inborn Errors of Metabolism
    • CHAPTER 19: Mainstream Monogenic Disorders
    • CHAPTER 20: Prenatal Testing and Reproductive Genetics
    • CHAPTER 21: Genetic Counseling
  • Case-Based Questions
    • CHAPTER 6: Patterns of Inheritance
    • CHAPTER 7: Population and Mathematical Genetics
    • CHAPTER 8: Risk Calculation
    • CHAPTER 9: Developmental Genetics
    • CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
    • CHAPTER 11: Screening for Genetic Disease
    • CHAPTER 12: Hemoglobin and the Hemoglobinopathies
    • CHAPTER 13: Immunogenetics
    • CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
    • CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
    • CHAPTER 17: Chromosome Disorders
    • CHAPTER 18: Inborn Errors of Metabolism
    • CHAPTER 19: Mainstream Monogenic Disorders
    • CHAPTER 20: Prenatal Testing and Reproductive Genetics
    • CHAPTER 21: Genetic Counseling
  • Multiple-Choice Answers
    • CHAPTER 2: The Cellular and Molecular Basis of Inheritance
    • CHAPTER 3: Chromosomes and Cell Division
    • CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes
    • CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders
    • CHAPTER 6: Patterns of Inheritance
    • CHAPTER 7: Population and Mathematical Genetics
    • CHAPTER 8: Risk Calculation
    • CHAPTER 9: Developmental Genetics
    • CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
    • CHAPTER 11: Screening for Genetic Disease
    • CHAPTER 12: Hemoglobin and the Hemoglobinopathies
    • CHAPTER 13: Immunogenetics
    • CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
    • CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
    • CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
    • CHAPTER 17: Chromosome Disorders
    • CHAPTER 18: Inborn Errors of Metabolism
    • CHAPTER 19: Mainstream Monogenic Disorders
    • CHAPTER 20: Prenatal Testing and Reproductive Genetics
    • CHAPTER 21: Genetic Counseling
  • Case-Based Answers and Discussion
    • CHAPTER 6: Patterns of Inheritance
    • CHAPTER 7: Population and Mathematical Genetics
    • CHAPTER 8: Risk Calculation
    • CHAPTER 9: Developmental Genetics
    • CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
    • CHAPTER 11: Screening for Genetic Disease
    • CHAPTER 12: Hemoglobin and the Hemoglobinopathies
    • CHAPTER 13: Immunogenetics
    • CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
    • CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
    • CHAPTER 17: Chromosome Disorders
    • CHAPTER 18: Inborn Errors of Metabolism
    • CHAPTER 19: Mainstream Monogenic Disorders
    • CHAPTER 20: Prenatal Testing and Reproductive Genetics
    • CHAPTER 21: Genetic Counseling
  • Clinical Scenario Answers and Discussion
    • Chapter 6
    • Chapter 8
    • Chapter 9
    • Chapter 11
    • Chapter 12
    • Chapter 13
    • Chapter 14
    • Chapter 16
    • Chapter 17
    • Chapter 18
    • Chapter 19
    • Chapter 20
    • Chapter 21
    • Chapter 22
  • Index

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