Emery and Rimoin's Principles of Practicing Medical Genetics

'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 Andre 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 Jeunemaitre; Preeclampsia, Dr Reynir Arngrimsson; 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 Jurgen 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-Schoneborn; Nondystrophic Myotonias and Periodic Paralyses, Professor Reinhardt Rudel, 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 Color Vision Defects, Dr Samir S Deeb, Dr Arno Motulsky; Optic Atrophy and Congenital Blindness, Dr Irene H Maumenee, Dr Veronique J Arnould-Devuyst; Glaucoma, Dr Henry D Jampel, Dr Robert Nickells, Dr Donald J Zack; Defects of the Cornea, Dr Joel Sugar; Anomalies of the Lens, Dr Yaron S Rabinowitz, Dr Katherine Bergwerk, Dr Edward Cotlier; Hereditary Retinal and Choroidal Degenerations, Dr John R Heckenlively; Strabismus, Dr J Bronwyn Bateman, Dr Sherwin J Isenberg; Retinoblastoma, Dr A Linn Murphree DEAFNESS - Bruce Korf Nonsyndromic and Syndromic Deafness, Dr Nathan Fischel-Ghodsian, Dr Rena Falk CRANIOFACIAL DISORDERS - Reed Pyeritz Craniosynostosis, Dr Amy Feldman Lewanda, Dr Ethylin Jabs; Craniofacial Disorders, Dr M Michael Cohen DERMATOLOGIC DISORDERS - David Rimoin Abnormalities of Pigmentation, Dr Richard A King; Ichthyosiform Dermatoses, Dr Howard P Baden, Dr David Avram; Epidermolysis Bullosa, Professor I Anton-Lamprecht, Professor Tobias Gedde-Dahl Jr; Ectodermal Dysplasias, Dr Jonathan Zonana; Other Genetic Disorders of the Skin, Dr Lowell A Goldsmith, Dr Lori Schaen; Skin Cancer, Professor Rhona MacKie CONNECTIVE TISSUE DISORDERS - Reed Pyeritz Marfan Syndrome and Other Disorders of Fibrillin, Dr Reed E Pyeritz; Ehlers-Danlos Syndrome, Dr Peter H Byers, Dr Ulrike Schwarze; Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders, Dr Jouni Uitto, Dr Leena Pulkkinen SKELETAL DISORDERS - David Rimoin Chondrodysplasias, Dr David L Rimoin, Dr Ralph Lachman, Dr Sheila Unger; Disorders of Bone Density, Volume and Mineralization, Dr David Sillence; Abnormalities of Bone Structure, Dr William Horton; The Dysostoses, Dr Deborah Krakow; Arthrogryposes (Multiple Congenital Contractures), Dr Judith Hall; Common Skeletal Deformities, Dr William Horton; Hereditary Noninflammatory Arthropathies, Professor Peter Beighton