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• Title:Emery's elements of medical genetics.
  
•    
• Variant Title:Elements of medical genetics
  
• Author/Creator:Turnpenny, Peter D.
  
• Other Contributors/Collections:Ellard, Sian.
  
• Published/Created:Philadelphia, PA : Elsevier/Churchill Livingstone, ©2012.
  

• Holdings

  Holdings Record Display

  • Location:BMB LIBRARY (VGH) stacksWhere is this?
    
  • Call Number: QZ50 .T956 2012
    
  • Number of Items:1
    
  • Status:Available
    

  • Location:WOODWARD LIBRARY stacksWhere is this?
    
  • Call Number: QZ50 .T956 2012
    
  • Number of Items:1
    
  • Status:Available
    

   
• Library of Congress Subjects:Medical genetics.
  
• Medical Subjects: Genetics, Medical.
  Genetic Diseases, Inborn.
  
• Edition:14th ed. / Peter D. Turnpenny, Sian Ellard.
  
• Description:xiii, 445 pages : ill ; 28 cm.
  
• Summary:Master the genetics you need to know with the updated 14th Edition, by Drs. Peter Turnpenny and Sian Ellard. Review the field's latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient.
  
• Notes:Includes bibliographical references and index.
  
• ISBN:9780702040436 (pbk.)
  0702040436
  
• Contents:Machine generated contents note: SECTION A PRINCIPLES OF HUMAN GENETICS
  1. History and Impact of Genetics in Medicine
  Gregor Mendel and the Laws of Inheritance
  DNA as the Basis of Inheritance
  Fruit Fly
  Origins of Medical Genetics
  Impact of Genetic Disease
  Major New Developments
  2. Cellular and Molecular Basis of Inheritance
  Cell
  DNA: The Hereditary Material
  Chromosome Structure
  Types of DNA Sequence
  Transcription
  Translation
  Genetic Code
  Regulation of Gene Expression
  RNA-directed DNA Synthesis
  Mutations
  Mutations and Mutagenesis
  3. Chromosomes and Cell Division
  Human Chromosomes
  Methods of Chromosome Analysis
  Molecular Cytogenetics
  Chromosome Nomenclature
  Cell Division
  Gametogenesis
  Chromosome Abnormalities
  4. DNA Technology and Applications
  DNA Cloning
  Techniques of DNA Analysis
  5. Mapping and Identifying Genes for Monogenic Disorders
  Position-Independent Identification of Human Disease Genes
  Positional Cloning
  Human Genome Project
  6. Developmental Genetics
  Fertilization and Gastrulation
  Developmental Gene Families
  Role of Cilia in Developmental Abnormalities
  Limb as a Developmental Model
  Developmental Genes and Cancer
  Positional Effects and Developmental Genes
  Hydatidiform Moles
  Sexual Differentiation and Determination
  Epigenetics and Development
  Twinning
  7. Patterns of Inheritance
  Family Studies
  Mendelian Inheritance
  Multiple Alleles and Complex Traits
  Anticipation
  Mosaicism
  Uniparental Disomy
  Genomic Imprinting
  Mitochondrial Inheritance
  8. Population and Mathematical Genetics
  Allele Frequencies in Populations
  Genetic Polymorphism
  Segregation Analysis
  Genetic Linkage
  Medical and Societal Intervention
  Conclusion
  9. Polygenic and Multifactorial Inheritance
  Polygenic Inheritance and the Normal Distribution
  Multifactorial Inheritance
  -The Liability/Threshold Model
  Heritability
  Identifying Genes that Cause Multifactorial Disorders
  Conclusion
  SECTION B GENETICS IN MEDICINE
  10. Hemoglobin and the Hemoglobinopathies
  Structure of Hb
  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
  11. Biochemical Genetics
  Inborn Errors of Metabolism
  Disorders of Amino Acid Metabolism
  Disorders of Branched-Chain Amino Acid Metabolism
  Urea Cycle Disorders
  Disorders of Carbohydrate Metabolism
  Disorders of Steroid Metabolism
  Disorders of Lipid Metabolism
  Lysosomal Storage Disorders
  Disorders of Purine/Pyrimidine Metabolism
  Disorders of Porphyrin Metabolism
  Organic-Acid Disorders
  Disorders of Copper Metabolism
  Peroxisomal Disorders
  Disorders Affecting Mitochondrial Function
  Prenatal Diagnosis of Inborn Errors of Metabolism
  12. Pharmacogenetics
  Definition
  Drug Metabolism
  Genetic Variations Revealed by the Effects of Drugs
  Pharmacogenetics
  13. Immunogenetics
  Immunity
  Innate Immunity
  Specific Acquired Immunity
  Inherited Immunodeficiency Disorders
  Blood Groups
  14. Cancer Genetics
  Differentiation between Genetic and Environmental Factors in Cancer
  Oncogenes
  Tumor Suppressor Genes
  Epigenetics and Cancer
  Genetics of Common Cancers
  Genetic Counseling in Familial Cancer
  15. Genetic Factors in Common Diseases
  Genetic Susceptibility to Common Disease
  Types and Mechanisms of Genetic Susceptibility
  Approaches to Demonstrating Genetic Susceptibility to Common Diseases
  Disease Models for Multifactorial Inheritance
  Type 1 Diabetes
  Type 2 Diabetes
  Crohn Disease
  Hypertension
  Coronary Artery Disease
  Schizophrenia
  Alzheimer Disease
  Hemochromatosis
  Venous Thrombosis
  Age-Related Macular Degeneration
  SECTION C CLINICAL GENETICS
  16. Congenital Abnormalities and Dysmorphic Syndromes
  Incidence
  Definition and Classification of Birth Defects
  Genetic Causes of Malformations
  Environmental Agents (Teratogens)
  Malformations of Unknown Cause
  Counseling
  17. Genetic Counseling
  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 Problems in Genetic Counseling
  18. Chromosome Disorders
  Incidence of Chromosome Abnormalities
  Disorders of the Sex Chromosomes
  Chromosome Deletion and Microdeletion Syndromes
  Disorders of Sexual Differentiation
  Chromosomal Breakage Syndromes
  Xeroderma Pigmentosa
  Indications for Chromosomal/Microarray-CGH Analysis
  19. Single-Gene Disorders
  Huntington Disease
  Myotonic Dystrophy
  Hereditary Motor and Sensory Neuropathy
  Neurofibromatosis
  Marfan Syndrome
  Cystic Fibrosis
  Inherited Cardiac Arrhythmias and Cardiomyopathies
  Spinal Muscular Atrophy
  Duchenne Muscular Dystrophy
  Prospects for Treatment
  Hemophilia
  20. Screening for Genetic Disease
  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
  Neonatal Screening
  Population Carrier Screening
  Genetic Registers
  21. Prenatal Testing and Reproductive Genetics
  Techniques Used in Prenatal Diagnosis
  Prenatal Screening
  Indications for Prenatal Diagnosis
  Special Problems in Prenatal Diagnosis
  Termination of Pregnancy
  Preimplantation Genetic Diagnosis
  Assisted Conception and Implications for Genetic Disease
  Non-Invasive Prenatal Diagnosis
  Prenatal Treatment
  22. Risk Calculation
  Probability Theory
  Autosomal Dominant Inheritance
  Autosomal Recessive Inheritance
  Sex-Linked Recessive Inheritance
  Use of Linked Markers
  Bayes' Theorem and Prenatal Screening
  Empiric Risks
  23. Treatment of Genetic Disease
  Conventional Approaches to Treatment of Genetic Disease
  Therapeutic Applications of Recombinant DNA Technology
  Gene Therapy
  RNA Modification
  Targeted Gene Correction
  Stem Cell Therapy
  24. Ethical and Legal Issues in Medical Genetics
  General Principles
  Ethical Dilemmas in the Genetic Clinic
  Ethical Dilemmas and the Public Interest
  Conclusion.