Medical genetics : principles and practice

著者

書誌事項

Medical genetics : principles and practice

James J. Nora ... [et al.]

Lea & Febiger, 1994

4th ed

タイトル別名

Nora and Fraser medical genetics : principles and practice

大学図書館所蔵 件 / 全18件

この図書・雑誌をさがす

注記

Includes bibliographical references and index

内容説明・目次

内容説明

A comprehensive manual on medical genetics designed for medical students. In this edition, most chapters have been substantially rewritten or replaced. It contains a significant amount of clinical material in sufficient detail to answer many questions and lists comprehensive references. The book features a balanced presentation of traditional areas of medical genetics, such as chromosomal basis of heredity, with contemporary areas of medical genetics, such as non-traditional inheritance (eg imprinting, mitochondria inheritance). This edition contains more current information, achieved by condensing old and adding new, without substantially increasing the text. Molecular breakthroughs are covered in detail withut over-emphasizing the topic at the expense of fundamental principles. This manual also includes colour photomicrographs of recent breakthroughs in technology, such as Fluorescence In Sitre Hybridization (FISH) and highlights the important ongoing research into determining disease predisposition.

目次

  • Part 1 Heredity and disease: heritability of diseases and traits
  • chromosomal basis of heredity
  • clinical consequences of autosomal chromosome abnormalities
  • sex chromosomes ans their abnormalities
  • genetic basis of heredity
  • biochemical genetics
  • molecular genetics
  • selected mendelian diseases
  • mapping the human genome
  • genetic variation in human populations
  • the genetics of development and maldevelopment
  • multifactorial inheritance
  • some malformations and diseases determined by multifactorial inheritance
  • nontraditional inheritance. Part 2 Special topics: prenatal diagnosis of genetic diseases
  • human teratology
  • dermatoglyphics
  • immunogenetics
  • blood groups and serum proteins
  • somatic cell genetics
  • genetics and cancer
  • genetics of behaviour
  • cardiovascular disease
  • pharmacogenetics
  • normal traits
  • twins and their use in genetics
  • syndromology
  • genetic counselling. Appendix A: High resolution chromosome banding and morbid anatomy of the human genome. Appendix B: Selected sources of information on medical genetics and general genetics.

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