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Medical Genetics at a Glance 3rd Edition by Dorian J Pritchard, Bruce R Korf ISBN 0470656549 9780470656549

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Medical Genetics at a Glance 3rd Edition Dorian J. Pritchard Digital Instant Download

Author(s): Dorian J. Pritchard, Bruce R. Korf
ISBN(s): 9780470656549, 0470656549
Edition: 3rd
File Details: PDF, 23.27 MB
Year: 2013
Language: english
SKU: EB-10609264 Category: Tags: ,

Medical Genetics at a Glance 3rd Edition by Dorian J. Pritchard, Bruce R. Korf – Ebook PDF Instant Download/Delivery: 0470656549, 9780470656549

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Product details:

ISBN 10: 0470656549

ISBN 13: 9780470656549 

Author: Dorian J. Pritchard, Bruce R. Korf 

Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders.

This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course.

Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include:

  • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer
  • A much extended treatment of Biochemical Genetics
  • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation
  • Two new chapters on Cardiac Developmental Pathology
  • An extended Case Studies section

Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.

Table of contents:

Part 1 Overview

  1. The place of genetics in medicine

Part 2 The Mendelian approach

  1. Pedigree drawing

  2. Mendel’s laws

  3. Principles of autosomal dominant inheritance and pharmacogenetics

  4. Autosomal dominant inheritance, clinical examples

  5. Autosomal recessive inheritance, principles

  6. Consanguinity and major disabling autosomal recessive conditions

  7. Autosomal recessive inheritance, life-threatening conditions

  8. Aspects of dominance

  9. X-linked and Y-linked inheritance

  10. X-linked inheritance, clinical examples

  11. Mitochondrial inheritance

  12. Risk assessment in Mendelian conditions

Part 3 Basic cell biology

  1. The cell

  2. The chromosomes

  3. The cell cycle

  4. Biochemistry of the cell cycle

  5. Gametogenesis

Part 4 Basic molecular biology

  1. DNA structure

  2. DNA replication

  3. The structure of genes

  4. Production of messenger RNA

  5. Non-coding RNA

  6. Protein synthesis

Part 5 Genetic variation

  1. Types of genetic alterations

  2. Mutagenesis and DNA repair

  3. Genomic imprinting

  4. Dynamic mutation

  5. Normal polymorphism

  6. Allele frequency

Part 6 Organization of the human genome

  1. Genetic linkage and genetic association

  2. Physical gene mapping

  3. Gene identification

  4. Clinical application of linkage and association

Part 7 Cytogenetics

  1. Chromosome analysis

  2. Autosomal aneuploidies

  3. Sex chromosome aneuploidies

  4. Chromosome structural abnormalities

  5. Chromosome structural abnormalities, clinical examples

  6. Contiguous-gene and single-gene syndromes

Part 8 Embryology and congenital abnormalities

  1. Human embryology in outline

  2. Body patterning

  3. Sexual differentiation

  4. Abnormalities of sex determination

  5. Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation

  6. Congenital abnormalities arising at the fetal stage

  7. Development of the heart

  8. Cardiac abnormalities

  9. Facial development and dysmorphology

Part 9 Multifactorial inheritance and twin studies

  1. Principles of multifactorial disease

  2. Multifactorial disease in children

  3. Common disorders of adult life

  4. Twin studies

Part 10 Cancer

  1. The signal transduction cascade

  2. The eight hallmarks of cancer

  3. Familial cancers

  4. Genomic approaches to cancer management

Part 11 Biochemical genetics

  1. Disorders of amino acid metabolism

  2. Disorders of carbohydrate metabolism

  3. Metal transport, lipid metabolism and amino acid catabolism defects

  4. Disorders of porphyrin and purine metabolism and the urea/ornithine cycle

  5. Lysosomal, glycogen storage and peroxisomal diseases

  6. Biochemical diagnosis

Part 12 Immunogenetics

  1. Immunogenetics, cellular and molecular aspects

  2. Genetic disorders of the immune system

  3. Autoimmunity, HLA and transplantation

Part 13 Molecular diagnosis

  1. DNA hybridization-based analysis systems

  2. DNA sequencing

  3. The polymerase chain reaction

  4. DNA profiling

Part 14 Genetic counselling, disease management, ethical and social issues

  1. Reproductive genetic counselling

  2. Prenatal sampling

  3. Avoidance and prevention of disease

  4. Management of genetic disease

  5. Ethical and social issues in clinical genetics

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Tags: Dorian J Pritchard, Bruce R Korf, Medical Genetics, At a Glance