Principles and practice of medical genetics

著者

書誌事項

Principles and practice of medical genetics

edited by Alan E.H. Emery, David L. Rimoin ; associate editor, Jeffrey A. Sofaer ; editorial assistant, Isobel Black ; foreword by Victor A. McKusic

Churchill Livingstone, 1990

2nd ed

  • set
  • v. 1
  • v. 2

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注記

Includes bibliographies and separately paged indexes

内容説明・目次

内容説明

Since the first edition of this book appeared in 1983 considerable changes have taken place in many aspects of medical genetics. These have been very largely due to the application of recombinant DNA techniques. This technology has helped our understanding of the fine structure of genes and is also beginning to unravel the molecular pathology of many inherited disorders. But perhaps of more immediate and practical importance, the technology has introduced novel and precise methods for detecting female carriers of X-linked disorders, presymptomatic cases of dominant disorders of late onset and in the prenatal diagnosis of genetic disease. These changes are reflected in most of the contributions to this new edition and their relevance will be apparent in almost all aspects of the subject. In two volumes, this book covers both common and rare genetic disorders. The editors aimed to include all genetic disorders and by drawing contributors from around the world, they obtained a specialist or - in the case of many of the rare disorders - the specialist in that disorder. This edition has been revised but retains the structure of the first edition - scientific principles, reviewed chromosome disorders, system-by-system review of genetic disorders, and applied genetics.

目次

  • Part 1 Basic principles: nature and incidence of genetic disease, A.E.Emery
  • gene structure and function in eukaryotic organisms, C.J.Epstein
  • molecular biology in relation to medical genetics, R.F.Mueller
  • mutation in man, F.Vogel
  • chromosomal basis of inheritance, O.J.Miller
  • unifactorial inheritance, R.Skinner
  • Bayesian methods in medical genetics, A.E.Emery
  • segregation analysis, M.A.Spence
  • population genetics, J.A.Sofaer
  • gene mapping, U.Francke
  • analysis of genetic linkage, J.Lalouel
  • multifactoral inheritance, D.T.Bishop
  • twins, J.A.Sofaer
  • teratogenic agents, J.W.Hanson
  • a clinical approach to the dysmorphic child, K.L.Jones. Part 2 Chromosome disorders: human cytogenic nomeclature, H.A.Lubs and P.S.Ing
  • autosomal disorders, J.de Grouchy and C.Turleau
  • sex chromosome abnormalities, A.de la Chapelle. Part 3 System disorders, neurological disorders: x-linked mental retardation and the marker x, H.A.Lubs
  • infertility and recurrent abortion, A.C.Chandley
  • genetics and prevention of neural tube defects, K.M.Laurence
  • the convulsive disorders, G.C.Sutton
  • hereditary disorders of the basal ganglia, R.Eldridge
  • Huntington disease, P.M.Conneally
  • hereditary ataxias and paraplegias, A.E.Harding
  • autonomic and sensory disorders, F.B.Axelrod
  • peripheral neuropathies, P.K.Thomas
  • the phakomatoses, V.Riccardi
  • demyelinating disorders, S.Bundey
  • schizophrenia and major mood disorders, D.K.Kinney
  • the presenile dementias, D.Vassilopoulos
  • addictive disorders, H.W.Goedde
  • mental retardation, H.W.Moser
  • congenital myopathies, J.Z.Heckmatt
  • the muscular dystrophies, A.E.Emery
  • spinal muscular atrophies, J.H.Pearn
  • myotonic dystrophy and related disorders, P.S.Harper
  • myasthenia gravis, G.M.Fenichel
  • motor neuronal diseases, J.Keleman
  • the periodic paralyses, I.Gamstorp
  • congenital blindness, M.Warburg
  • optic atrophy, L.N.Went
  • glaucoma - congenital and later onset, J.R.Henkenlively
  • defects of the cornea, J.Sugar
  • anomalies of the lens, Hans-R.Kock
  • hereditary retinal and choroidal degenerations, J.R.Henkenlively
  • retinoblastoma, D.F.Roberts and G.E.Aherne
  • genetic aspects of strabismus, J.B.Bateman and S.J.Isenberg
  • hereditary deafness, P.Beighton
  • craniofacial disorders, M.Cohen
  • abnormalities of pigmentation, C.J.Witkop Jr
  • ichthyosiform dermatoses, H.P.Baden
  • epidermolysis bullosa, T.Gedde-Dahl, Jr and I.Anton-Lampredth
  • genetic disorders of the skin, L.A.Goldsmith
  • the chandrodysplasias, D.L.Rimoin and R.S.Lachman
  • disorders of bone density, D.O.Sillence. (Part Contents)

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