Riassunto
Written for the practising clinician, the fourth editon of this three-volume classic remains the only comprehensive resource in the field. Prepared by internationally recognized authorities, it covers the basic principles of genetics, but emphasises their application in the clinical environment accross the full spectrum of inherited disorders. It is essential for clinical geneticists, but is also accessible to other specialists needing expert guidance on the diagnosis and management of genetic disorders. Why is this still the best book on Clinical Genetics? The only book to provide clinically-oriented coverage of all genetically-based diseases - everything you need in one place It bridges the gap between molecular genetics and clinical practice Strong emphasis on issues of daily relevance to the practising clinician, ie screening, diagnosis, treatment, counselling - '80% of its pages are devoted to a comprehensive clinical coverage of genetic disorders' - Trends in Genetics Disorders grouped by organ-system giving speedy access to the information relevant to your practice Consistent chapter structure allows quick access to key facts - 'properly organised' - NEJM An up-to-date human gene map contributed by Victor McKusick 'References to the primary literature make this book a must...' - NEJM Dr Bruce Korf, both a neurologist and geneticist, has fully up-dated the neurogenetics material Many new authors added to maintain a fresh, up-to-date perspective All 159 chapters completely revised and up-dated, many completely re-written, reflecting the rapid change in medical genetics and ensuring all information is cutting edge - 'well written' - NEJM 16 new chapters added - see contents list
Contenuti
'a mine of useful information' - Trends in Genetics
New chapters marked in bold
BASIC PRINCIPLES - Michael Connor
History of Medical Genetics, Dr Victor McKusick; Medicine in a Genetic Context, Dr Barton Childs; Nature and Frequency of Genetic Disease, Dr David L Rimoin, Professor J Michael Connor, Dr Reed E Pyeritz, Dr Bruce Korf; Gene Structure and Function, Dr Leena Peltonen; Mutations in Human Diseases: Nature and Consequences, Professor Stylianos E Antonarakis, Prof Michael Krawczak, Prof David N Cooper; Human Inheritance, Dr Jackie A Cook, Dr Wayne Lam, Dr Robert F Mueller; Segregation Analysis, Dr Anne Spence, Dr Susan E Hodge; Analysis of Genetic Linkage, Dr Niall Anderson; Chromosomal Basis of Inheritance, Dr Julie Korenberg, Dr T K Mohandas; Morbid Anatomy of the Human Genome, Dr Victor McKusick; Mitochondrial Genetics, Dr Douglas C Wallace; Genetic Analysis of Complex Traits, Dr Niall H Anderson, Professor Anna Dominiczak; Population Genetics, Dr Bronya J B Keats, Dr Stephanie L Sherman; Pathogenetics of Disease, Dr Edmond A Murphy, Dr Reed E Pyeritz; Genetic Epidemiology, Dr Neil J Risch; Developmental (Embryological) Genetics, Dr Maximilian Muenke; Human Malformations, Dr Jill Clayton-Smith, Professor Dian Donnai; Twins and Twinning, Dr Judith G Hall; The Molecular Biology of Cancer, Dr Edward Tobias, Dr Donald Black; The Biologic Basis of Aging: Implications for Medical Genetics, Dr George M Martin; Pharmacogenetics, Dr Daniel Nebert
GENERAL PRINCIPLES - Michael Connor
Genetic Assessment and Pedigree Analysis, Dr Helen M Kingston; Genetic Risk Assessment in Common Diseases, Dr Maren T Scheuner; Risk Estimation in Genetic Counseling, Dr Ian D Young; Cytogenetic Analysis, Professor M A Ferguson-Smith; Diagnostic Molecular Genetics, Dr Wayne Grody, Dr David Seligson, Dr Milhan Telatar; Carrier Screening, Dr Matthew J McGinniss, Dr Kaback; Prenatal Screening for Neural Tube Defects and Aneuploidy, Dr David Aitken; Techniques for Prenatal Diagnosis, Dr Sherman Elias, Dr Joe Leigh Simpson, Dr Lee P Shulman; Neonatal Screening, Dr Richard W Erbe, Dr H.L. Levy; Genetic Counseling, Dr Ann P Walker; Gene Therapy Strategies for the Treatment of Neurodegenerative and Other Genetic Diseases, Dr Edward H Schuchman, Dr Janet E Carter, Prof Robert J Desnick; Ethical and Social Issues in Clinical Genetics, Dr Angus Clarke; Legal Issues in Genetics in Medicne, Dr Philip Reilly
APPROACHES TO CLINICAL PROBLEMS - Reed Pyeritz
The Genetic Basis of Female Infertility, Dr Larry Layman; Male Infertility, Dr Willy Lissens, Professor Inge Liebaers, Dr André Van Steirteghem; Fetal Loss, Dr Rhona Schreck; A Clinical Approach to the Dysmorphic Child, Dr Kenneth L Jones, Dr Marilyn C Jones; Clinical Teratology, Dr James V Hanson, Dr J M Friedman; Abnormal Mental Development, Dr Gerald V Raymond; Abnormal Body Size and Proportion, Dr John Graham Jr, Dr David L Rimoin; Susceptibility and Response to Infection, Dr Michael Murray, Dr James Versalovic; Transplantation Genetics, Dr Massimo Trucco, Prof Wilma B Bias
CHROMOSOMAL DISORDERS - Michael Connor
Down Syndrome and other Autosomal Trisomies, Dr John L Tolmie; Sex Chromosome Abnormalities, Dr Judith Allanson, Dr Gail Graham; Deletions and Other Structural Abnormalities of the Autosomes, Dr Nancy Spinner, Dr Beverly Emanuel
CARDIOVASCULAR DISORDERS - Reed Pyeritz
Congenital Heart Disease, Professor John Burn; Common Genetic Determinants of Coagulation and Fibronolysis, Professor Peter J Grant, Dr Angela M Carter; Cardiomyopathies, Professor Hans-Peter Vosberg, Professor William J McKenna; Familial Dysrhythmias and Conduction Disorders, Dr Jeffrey Towbin; Molecular Genetics of Hypertension, Dr Pierre Corvol, Dr Xavier Jeunemaître; Preeclampsia, Dr Reynir Arngrímsson; Genetic Determinants of Atherosclerotic Heart Disease and Other Occlusive Arterial Disorders, Dr Paul Thompson, Dr Asad Rizvi, Dr Reed Pyeritz; Hereditary Disorders or the Lymphatic and Venous Systems, Dr Robert E Ferrell, Dr Reed E Pyeritz
RESPIRATORY DISORDERS - Reed Pyeritz
Cystic Fibrosis, Dr Gary Cutting; Asthma, Dr Deborah A Meyers, Dr Eugene R Bleeker; Hereditary Pulmonary Emphysema, Dr Edwin K Silverman; Interstitial and Restrictive Pulmonary Disorders, Dr Gary W Hunninghake, Dr Gunnar Gudmundsson
RENAL DISORDERS - David Rimoin
Congenital Disorders or the Urinary Tract, Dr Margot Van Allen; Renal Cystic Diseases, Dr Stanley C Jordan, Dr Asha Moudgil, Dr Ragini Fredrich, Dr H Kangarloo; Nephrotic Disorders, Dr Helena Kaariainen, Dr Hannu Jalanko, Dr Reijo Norio; Renal Tubular Disorders, Dr Richard Hillman; Cancer of the Kidney and Urogenital Tract, Professor Eamonn R Maher
GASTROINTESTINAL DISORDERS - Reed Pyeritz
Gastrointestinal Tract and Hepatobiliary Duct System, Professor Eberhard Passarge; Inflammatory Bowel Disease, Dr Jerome I Rotter; Hereditary Disorders of the Liver and Biliary System, Dr Namita Roy Chowdhury, Dr Ajit Kadakol, Jayanta Roy Chowdhury; Cancer of the Colon and Gastrointestinal Tract, Dr Richard Boland, Dr Stephen J Melzter
HEMATOLOGIC DISORDERS - Reed Pyeritz
Hematoglobinopathies and Thalassemias, Dr John Old; Other Hereditary Red Blood Cell Disorders, Dr Bertil Glader; Hemophilias and Other Disorders of Hemostasis, Dr David Ginsburg; Rhesus and Other Fetomaternal Incompatibilities, Professor Phillip R Bennett, Professor Charles H Rodeck, Dr Mahesh Choolani; Leukemias, Lymphomas, and Other Related Disorders, Dr Janet D Rowley, Dr Yuri N Kobzev
IMMUNOLOGIC DISORDERS - David Rimoin
Autoimmunity, Dr Henry Ehrlich; Systemic Lupus Erythematosus, Dr Betty P Tsao, Dr Bevra Hahn; Rheumatoid Arthritis and Allied Inflammatory Arthropathies, Dr Paul Wordsworth; Amyloidosis and Other Protein Deposition Diseases, Dr Merrill Benson; Immunodeficiency Disorders, Dr Kurt H Hirschhorn, Dr Rochelle Hirschhorn; Complement Defects, Dr Fred Rosen, Dr Chester A. Alper, Dr Alvin E Davis III; Disorders of Leukocyte Function, Dr Harry R Hill, Dr Kuender D Yang
ENDOCRINOLOGIC DISORDERS - David Rimoin
Genetic Disorders of the Pituitary Gland, Dr Chanda T Moseley, Dr John A Phillips III, Dr David L Rimoin; Thyroid Disorders, Dr Delbert Fisher; Parathyroid Disorders, Dr Geoffrey N Hendy, Dr David EC Cole; Diabetes Mellitus, Dr Leslie J Raffel; Genetic Disorders of the Adrenal Gland, Dr Maria New; Disorders of the Gonads, Genital Tract and Genitalia, Dr Joe Leigh Simpson; Cancer of the Breast and Female Reproductive Tract, Dr Michael Steel
METABOLIC DISORDERS - David Rimoin
Disorders of the Body Mass, Dr Patricia Donohoue; Amino Acid Metabolism, Dr William R Wilcox, Dr Stephen D Cederbaum; Disorders of Carbohydrate Metabolism, Dr Won G Ng, Dr Thomas Roe; Purine and Pyrimidine Metabolism, Dr J Edwin Seegmiller; Lipoprotein and Lipid Metabolism, Dr Aldon J Lusis, Dr Boris Ivandic, Dr Lawrence W Castellani; Disorders of Fatty Acid Transport and Mitochondrial Oxidation, Dr Piero Rinaldo, Dr Dietrich Matern; Organic Acidemias and Disorders of Fatty Acid Oxidation, Dr Stephen Goodman; Vitamin D Metabolism or Action, Dr Michael A Levine; Inherited Porphyrias, Dr Robert J Desnick, Dr Kenneth H Astrin, Dr Karl E Anderson; Copper Metabolism, Seymour Packman; Iron Metabolism and Related Disorders, Dr Jeffrey Gruen, Dr Thomas W Chu, Dr Christopher Bowlus; Mucopolysaccharidoses, Dr Jürgen Spranger; Oligosaccharridoses and Allied Disorders, Dr Jules Leroy; Gangliosidoses and Related Lipid Storage Diseases, Dr Alan Percy; Peroxisomal Disorders, Professor Ronald J A Wanders, Professor P G Barth, Professor H S A Heymans
MENTAL AND BEHAVIOURAL DISORDERS - Bruce Korf
The Genetics of Personality, Dr Matthew McGue; Fragile X Syndrome and Other Causes of X-linked Mental Handicap, Professor Grant R Sutherland, Dr John Mulley, Dr Jozef Gecz; Dyslexia and Other Specific Learning Disorders, Dr Shelley D Smith, Dr Jeffrey W Gilger, Dr Bruce F Pennington; Attention Deficit Hyperactivity Disorder, Dr Steven Faraone, Dr Alysa Doyle; Autism and Other Behavioral Disorders, Professor Emily Simonoff, Professor Sir Michael Rutter; Alzheimer Disease and Other Dementias, Dr Margaret Pericak-Vance, Dr Anne Saunders; Schizophrenia, Dr Dennis K Kinney; Major Mood Disorders, Dr Melvin G McInnis, Dr J Raymond DePaulo Jr; Addictive Disorders, Dr Tatiana Foroud, Dr Wade Berrettini
NEUROLOGIC DISORDERS - Bruce Korf
Clinical Genetics of Neural Tube Defects and other Congenital Nervous System Malformations, Dr John L Tolmie; Genetic Disorders of Cerebral Cortical Development, Dr Christopher A Walsh, Dr Mohamed Sabry, Dr Ganeshwaran H Mochida; The Epilepsies, Professor R M Gardiner, Dr Frances Elmslie, Dr Anna-Elina Lehesjoki; Basal Ganglia Disorders, Dr Michael R Hayden, Dr Berry Kremer; Hereditary Ataxias, Dr Puneet Opal, Dr Huda Zoghbi; Hereditary Spastic Paraplegia, Dr John K Fink; Autonomic and Sensory Disorders, Dr Felicia Axelrod; The Phakomatoses, Dr Bruce Korf; Multiple Sclerosis and Other Demyelinating Disorders, Dr Dessa Sadovnick; Cerebrovascular Disorders, Dr Martin Dichgans, Dr Anne Joutel; Primary Tumors of the Nervous System, Dr Stephan Pulst, Dr Daniel R Scoles
NEUROMUSCULAR DISORDERS - Bruce Korf
Congenital Muscular Dystrophies, Dr Eugenio Mercuri, Dr J Philpot, Professor Victor Dubowitz; Duchenne and Other X-linked Muscular Dystrophies, Professor Alan E H Emery; Autosomally Inherited Muscular Dystrophies, Dr K Bushby; Hereditary Motor and Sensory Neuropathies, Dr Neal Boerkoel, Dr James Lupski; Congenital Myopathies, Dr Carina A Wallgren-Pettersson, Dr Angus Clarke; Spinal Muscular Atrophies, Dr Klaus Zerres, Dr Sabine Rudnik-Schöneborn; Nondystrophic Myotonias and Periodic Paralyses, Professor Reinhardt Rüdel, Professor Frank Lehmann-Horn; Myotonic Dystrophy, Professor Peter S Harper; Hereditary and Autoimmune Myasthenias, Professor Nicholas Willcox, Dr David Beeson; Motor Neurone Diseases, Professor Teepu Siddique
OPHTHALMOLOGIC DISORDERS - Bruce Korf
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