Principles and Practice of Medical Genetics

Principles and Practice of Medical Genetics

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The only comprehensive book in the field, this text is a veritable encyclopedia of medical genetics. The third edition has been updated in so many ways it is practically a new book, but it carries on its reputation from previous editions as the dominant work on the subject worldwide. Highly authoritative and clinically focused, the text covers the whole field of medical genetics, including an introductory section on basic principles of the subject - which has been completely updated.The book's contributors are among the foremost experts on the conditions which they describe. It is pitched at a level useful to clinical geneticists, but also accessible to other specialists (paediatricians, haematologists, neurologists, ophthalmologists, oncologists, general physicians) needing guidance on genetic matters. Where previously the book went only as far as diagnosis, it now includes focus on management of conditions and contains 30 new clinical chapters.
Features: * Revised section on basic principles: up-to-date information on molecular and cytogenetic assays including recombinant DNA, PCR amplification, blot analysis, and in situ hybridization protocols * Full-color examples of FISH probes and chromosomal painting * More focus on the clinical aspects of genetics including photographs of the full spectrum of clinical phenotypes * Latest information on teratology * An up-to-date human gene map contributed by Victor McKusick * Stronger emphasis on the management of conditions including genetic screening and gene therapy * Reviews of the second edition include these excerpts: A landmark book...well written, attractively designed and properly organized...The hundreds of illustrations, and references to the primary literature make this book a must..." The New England Journal of Medicine "80% of its pages are devoted to a comprehensive clinical coverage of genetic seems to be a mine of useful information, well tabulated and extensively referenced." Trends in Genetics "No medical geneticist will practice without this book. Every library that deals with human biology or medicine should order this text.
Highly recommended!" Annals of Human Biology "There is no competitor as a basic text for the trainee in clinical genetics, or for pediatric, obstetric and general medical libraries." British Journal of Hospital Medicine"
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Product details

  • Hardback | 2756 pages
  • 216 x 285mm | 7,063g
  • London, United Kingdom
  • English
  • Revised
  • 3rd Revised edition
  • 860 illus
  • 0443048517
  • 9780443048517

Table of contents

VOLUME 1 PART 1 BASIC PRINCIPLES: History of Medical Genetics. Nature and Frequency of Genetic Disease. Gene Structure and Function. Mutations in Human Diseases: Nature and Consequences . Molecular Methodology. Mendelian Inheritance. Segregation Analysis. Analysis of Genetic Linkage. Genomics. Morbid Anatomy of the Human Genome. Chromosomal Basis of Inheritance. Cytogenetic Analysis. Mitochondrial Genetics. Multifactorial Inheritance and Genetic Analysis of Multifactorial Disease. Population Genetics. Pathogenesis of Genetic Disease. Genetic Epidemiology. Human Malformations. Twins and Twinning. The Molecular Biology of Cancer. The Biologic Basis of Ageing: Implications for Medical Genetics. Pharmacogenetics. The Human Major Histocompatibility Complex and Disease Susceptibility. PART II CLINICAL APPLICATIONS: GENERAL PRINCIPLES: Genetic Assessment and Pedigree Analysis. Risk Estimation in Genetic Counseling. Carrier Screening. Prenatal Screening for Neural Tube Defects and Down Syndrome. Prenatal Diagnosis. Neonatal Screening. Genetic Counseling. Strategies for the Treatment of Genetic Disease. Ethical Aspects of Genetic Screening and Diagnosis. Legal Issues in Genetics. APPROACHES to COMMON CLINICAL PROBLEMS: Infertility. Fetal Loss. A Clinical Approach to the Dysmorphic Child. Human Teratology. Abnormal Mental Development. Abnormal Body Size and Proportion. Transplantation Genetics. APPROACHES to SPECIFIC DISORDERS:: Cardiovascular Disorders: Congenital Heart Disease. Common Generic Determinants of Coagulation and Fibrinolysis. Cardiomyopathies. Familial Dysrhythmias. Molecular Genetics of Hypertension. Pre-Eclampsia. Chromosome Disorders: Down Syndrome and Other Autosomal Trisomies. Sex Chromosome Abnormalities. Deletions and Other Structural Abnormalities of the Autosomes. Connective Tissue Disorders: Marfan Syndrome and Other Disorders of Fibrillin. Ehlers-Danlos Syndrome. Pseudoxanthoma Elasticu M, Cutix Laxa, And Other Disorders of Elastic Tissue. Craniofacial Disorders: Craniofacial Disorders. Deafn
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