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• Title:Thompson & Thompson genetics in medicine / Robert L. Nussbaum,MD, FACP, FACMG, Holly Smith Chair of Medicine and Science, Professor of Medicine, Neurology, Pediatrics and Pathology, Department of Medicine and Institute for Human Genetics, University of California San Francisco, San Francisco, California, Roderick R. McInnes, CM, MD, PhD, FRS(C), FCAHS, FCCMG, Alva Chair in Human Genetics, Canada Ressearch Chair in Neurogenetics, Professor of Human Genetics and Biochemistry, Director, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada, Huntington F. Willard, PhD, President and Director, The Marine Biological Laboratory, Woods Hole, Massachusetts, and Professor of Human Genetics, University of Chicago, Chicago, Illinois ; with clinical cases updated by Ada Hamosh, MD, MPH, Professor of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Scientific Director, OMIM, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  
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• Variant Title:Genetics in medicine
  Thompson and Thompson genetics in medicine
  
• Author/Creator:Nussbaum, Robert L., 1950- author.
  
• Other Contributors/Collections:McInnes, Roderick R., author.
  Willard, Huntington F., author.
  ebrary, Inc.
  
• Published/Created:Philadelphia : Elsevier, [2016]
  ©2016
  

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  • Location:ONLINEWhere is this?
    
  • Call Number: QZ50
    
  • Number of Items:
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  • Status:No information available 

   
• Library of Congress Subjects:Medical genetics.
  
• Medical Subjects: Genetics, Medical.
  
• Edition:Eighth edition.
  
• Description:1 online resource.
  
• Reproduction note:Electronic reproduction. Palo Alto, Calif. Available via World Wide Web.
  
• Notes:Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson.
  Includes bibliographical references and index.
  Description based on print version record.
  
• ISBN:9780323392068 (electronic bk.)
  0323392067 (electronic bk.)
  9781437706963 (alk. paper)
  1437706967 (alk. paper)
  
• Contents:Machine generated contents note: ch. 1 Introduction
  Birth and Development of Genetics and Genomics
  Genetics and Genomics in Medicine
  Onward
  ch. 2 Introduction to the Human Genome
  Human Genome and the Chromosomal Basis of Heredity
  Variation in the Human Genome
  Transmission of the Genome
  Human Gametogenesis and Fertilization
  Medical Relevance of Mitosis and Meiosis
  ch. 3 Human Genome: Gene Structure and Function
  Information Content of the Human Genome
  Central Dogma: DNA [→] RNA [→] Protein
  Gene Organization and Structure
  Fundamentals of Gene Expression
  Gene Expression in Action
  Epigenetic and Epigenomic Aspects of Gene Expression
  Gene Expression as the Integration of Genomic and Epigenomic Signals
  Allelic Imbalance in Gene Expression
  Variation in Gene Expression and Its Relevance to Medicine
  ch. 4 Human Genetic Diversity: Mutation and Polymorphism
  Nature of Genetic Variation
  Inherited Variation and Polymorphism in DNA
  Origin and Frequency of Different Types of Mutations
  Types of Mutations and Their Consequences
  Variation in Individual Genomes
  Impact of Mutation and Polymorphism
  ch. 5 Principles of Clinical Cytogenetics and Genome Analysis
  Introduction to Cytogenetics and Genome Analysis
  Chromosome Abnormalities
  Chromosome and Genome Analysis in Cancer
  ch. 6 Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
  Mechanisms of Abnormalities
  Aneuploidy
  Uniparental Disomy
  Genomic Disorders: Microdeletion and Duplication Syndromes
  Idiopathic Chromosome Abnormalities
  Segregation of Familial Abnormalities
  Disorders Associated with Genomic Imprinting
  Sex Chromosomes and Their Abnormalities
  Disorders of Sex Development
  Neurodevelopmental Disorders and Intellectual Disability
  ch. 7 Patterns of Single-Gene Inheritance
  Overview and Concepts
  Pedigrees
  Mendelian Inheritance
  Autosomal Patterns of Mendelian Inheritance
  X-Linked Inheritance
  Pseudoautosomal Inheritance
  Mosaicism
  Parent-of-Origin Effects on Inheritance Patterns
  Dynamic Mutations: Unstable Repeat Expansions
  Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome
  Correlating Genotype and Phenotype
  Importance of the Family History in Medical Practice
  ch. 8 Complex Inheritance of Common Multifactorial Disorders
  Qualitative and Quantitative Traits
  Familial Aggregation and Correlation
  Determining the Relative Contributions of Genes and Environment to Complex Disease
  Examples of Common Multifactorial Diseases with a Genetic Contribution
  Examples of Multifactorial Traits for Which Specific Genetic and Environmental Factors are Known
  Challenge of Multifactorial Disease with Complex Inheritance
  ch. 9 Genetic Variation in Populations
  Genotypes and Phenotypes in Populations
  Factors That Disturb Hardy-Weinberg Equilibrium
  Ethnic Differences in the Frequency of Various Genetic Diseases
  Genetics and Ancestry
  ch. 10 Identifying the Genetic Basis for Human Disease
  Genetic Basis for Linkage Analysis and Association
  Mapping Human Disease Genes
  From Gene Mapping to Gene Identification
  Finding Genes Responsible for Disease by Genome Sequencing
  ch. 11 Molecular Basis of Genetic Disease
  Effect of Mutation on Protein Function
  How Mutations Disrupt the Formation of Biologically Normal Proteins
  Relationship Between Genotype and Phenotype in Genetic Disease
  Hemoglobins
  Hemoglobinopathies
  ch. 12 Molecular, Biochemical, and Cellular Basis of Genetic Disease
  Diseases Due to Mutations in Different Classes of Proteins
  Diseases Involving Enzymes
  Defects in Receptor Proteins
  Transport Defects
  Disorders of Structural Proteins
  Neurodegenerative Disorders
  Concluding Comments
  ch. 13 Treatment of Genetic Disease
  Current State of Treatment of Genetic Disease
  Special Considerations in Treating Genetic Disease
  Treatment by the Manipulation of Metabolism
  Treatment to Increase the Function of the Affected Gene or Protein
  Gene Therapy
  Precision Medicine: The Present and Future of the Treatment of Mendelian Disease
  ch. 14 Developmental Genetics and Birth Defects / Anthony Wynshaw-Boris
  Developmental Biology in Medicine
  Introduction to Developmental Biology
  Genes and Environment in Development
  Basic Concepts of Developmental Biology
  Cellular and Molecular Mechanisms in Development
  Interaction of Developmental Mechanisms in Embryogenesis
  Concluding Comments
  ch. 15 Cancer Genetics and Genomics
  Neoplasia
  Genetic Basis of Cancer
  Cancer in Families
  Familial Occurrence of Cancer
  Sporadic Cancer
  Cytogenetic Changes in Cancer
  Applying Genomics to Individualize Cancer Therapy
  Cancer and the Environment
  ch. 16 Risk Assessment and Genetic Counseling
  Family History in Risk Assessment
  Genetic Counseling in Clinical Practice
  Determining Recurrence Risks
  Empirical Recurrence Risks
  Molecular and Genome-Based Diagnostics
  ch. 17 Prenatal Diagnosis and Screening
  Methods of Prenatal Diagnosis
  Indications for Prenatal Diagnosis by Invasive Testing
  Prenatal Screening
  Laboratory Studies
  Genetic Counseling for Prenatal Diagnosis and Screening
  ch. 18 Application of Genomics to Medicine and Personalized Health Care
  Genetic Screening in Populations
  Pharmacogenomics
  Pharmacogenomics as a Complex Trait
  Screening for Genetic Susceptibility to Disease
  Personalized Genomic Medicine
  ch. 19 Ethical and Social Issues in Genetics and Genomics
  Principles of Biomedical Ethics
  Ethical Dilemmas Arising in Medical Genetics
  Privacy of Genetic Information
  Eugenic and Dysgenic Effects of Medical Genetics
  Genetics in Medicine
  CASES
  Clinical Case Studies Illustrating Genetic Principles.