【医学遺伝学の原理と実際】
Emery and Rimoin's Principles and Practice of Medical Genetics. 4th ed. hardcover 3 Vols., 3228 p., 1170 illus.
Rimoin, David L., Connor, J.M., Korf, B. 著
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目次
'a mine of useful information' - Trends in Genetics New chapters markedin bold BASIC PRINCIPLES - Michael Connor History of Medical Genetics, DrVictor McKusick; Medicine in a Genetic Context, Dr Barton Childs; Nature andFrequency of Genetic Disease, Dr David L Rimoin, Professor J Michael Connor,Dr Reed E Pyeritz, Dr Bruce Korf; Gene Structure and Function, Dr LeenaPeltonen; Mutations in Human Diseases: Nature and Consequences, ProfessorStylianos E Antonarakis, Prof Michael Krawczak, Prof David N Cooper; HumanInheritance, Dr Jackie A Cook, Dr Wayne Lam, Dr Robert F Mueller; SegregationAnalysis, Dr Anne Spence, Dr Susan E Hodge; Analysis of Genetic Linkage, DrNiall Anderson; Chromosomal Basis of Inheritance, Dr Julie Korenberg, Dr T KMohandas; Morbid Anatomy of the Human Genome, Dr Victor McKusick;Mitochondrial Genetics, Dr Douglas C Wallace; Genetic Analysis of ComplexTraits, Dr Niall H Anderson, Professor Anna Dominiczak; Population Genetics,Dr Bronya J B Keats, Dr Stephanie L Sherman; Pathogenetics of Disease, DrEdmond A Murphy, Dr Reed E Pyeritz; Genetic Epidemiology, Dr Neil J Risch;Developmental (Embryological) Genetics, Dr Maximilian Muenke; HumanMalformations, Dr Jill Clayton-Smith, Professor Dian Donnai; Twins andTwinning, Dr Judith G Hall; The Molecular Biology of Cancer, Dr EdwardTobias, Dr Donald Black; The Biologic Basis of Aging: Implications forMedical Genetics, Dr George M Martin; Pharmacogenetics, Dr Daniel NebertGENERAL PRINCIPLES - Michael Connor Genetic Assessment and PedigreeAnalysis, Dr Helen M Kingston; Genetic Risk Assessment in Common Diseases, DrMaren T Scheuner; Risk Estimation in Genetic Counseling, Dr Ian D Young;Cytogenetic Analysis, Professor M A Ferguson-Smith; Diagnostic MolecularGenetics, Dr Wayne Grody, Dr David Seligson, Dr Milhan Telatar; CarrierScreening, Dr Matthew J McGinniss, Dr Kaback; Prenatal Screening for NeuralTube Defects and Aneuploidy, Dr David Aitken; Techniques for PrenatalDiagnosis, Dr Sherman Elias, Dr Joe Leigh Simpson, Dr Lee P Shulman; NeonatalScreening, Dr Richard W Erbe, Dr H.L. Levy; Genetic Counseling, Dr Ann PWalker; Gene Therapy Strategies for the Treatment of Neurodegenerative andOther Genetic Diseases, Dr Edward H Schuchman, Dr Janet E Carter, Prof RobertJ Desnick; Ethical and Social Issues in Clinical Genetics, Dr Angus Clarke;Legal Issues in Genetics in Medicne, Dr Philip Reilly APPROACHES TO CLINICALPROBLEMS - Reed Pyeritz The Genetic Basis of Female Infertility, Dr LarryLayman; Male Infertility, Dr Willy Lissens, Professor Inge Liebaers, Dr AndreVan Steirteghem; Fetal Loss, Dr Rhona Schreck; A Clinical Approach to theDysmorphic Child, Dr Kenneth L Jones, Dr Marilyn C Jones; ClinicalTeratology, Dr James V Hanson, Dr J M Friedman; Abnormal Mental Development,Dr Gerald V Raymond; Abnormal Body Size and Proportion, Dr John Graham Jr, DrDavid L Rimoin; Susceptibility and Response to Infection, Dr Michael Murray,Dr James Versalovic; Transplantation Genetics, Dr Massimo Trucco, Prof WilmaB Bias CHROMOSOMAL DISORDERS - Michael Connor Down Syndrome and otherAutosomal Trisomies, Dr John L Tolmie; Sex Chromosome Abnormalities, DrJudith Allanson, Dr Gail Graham; Deletions and Other Structural Abnormalitiesof the Autosomes, Dr Nancy Spinner, Dr Beverly Emanuel CARDIOVASCULARDISORDERS - Reed Pyeritz Congenital Heart Disease, Professor John Burn;Common Genetic Determinants of Coagulation and Fibronolysis, Professor PeterJ 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, DrXavier Jeunemaitre; Preeclampsia, Dr Reynir Arngrimsson; Genetic Determinantsof Atherosclerotic Heart Disease and Other Occlusive Arterial Disorders, DrPaul Thompson, Dr Asad Rizvi, Dr Reed Pyeritz; Hereditary Disorders or theLymphatic and Venous Systems, Dr Robert E Ferrell, Dr Reed E PyeritzRESPIRATORY DISORDERS - Reed Pyeritz Cystic Fibrosis, Dr Gary Cutting;Asthma, Dr Deborah A Meyers, Dr Eugene R Bleeker; Hereditary PulmonaryEmphysema, Dr Edwin K Silverman; Interstitial and Restrictive PulmonaryDisorders, Dr Gary W Hunninghake, Dr Gunnar Gudmundsson RENAL DISORDERS -David Rimoin Congenital Disorders or the Urinary Tract, Dr Margot VanAllen; Renal Cystic Diseases, Dr Stanley C Jordan, Dr Asha Moudgil, Dr RaginiFredrich, Dr H Kangarloo; Nephrotic Disorders, Dr Helena Kaariainen, Dr HannuJalanko, Dr Reijo Norio; Renal Tubular Disorders, Dr Richard Hillman; Cancerof the Kidney and Urogenital Tract, Professor Eamonn R MaherGASTROINTESTINAL DISORDERS - Reed Pyeritz Gastrointestinal Tract andHepatobiliary Duct System, Professor Eberhard Passarge; Inflammatory BowelDisease, Dr Jerome I Rotter; Hereditary Disorders of the Liver and BiliarySystem, Dr Namita Roy Chowdhury, Dr Ajit Kadakol, Jayanta Roy Chowdhury;Cancer of the Colon and Gastrointestinal Tract, Dr Richard Boland, Dr StephenJ Melzter HEMATOLOGIC DISORDERS - Reed Pyeritz Hematoglobinopathies andThalassemias, Dr John Old; Other Hereditary Red Blood Cell Disorders, DrBertil Glader; Hemophilias and Other Disorders of Hemostasis, Dr DavidGinsburg; Rhesus and Other Fetomaternal Incompatibilities, Professor PhillipR Bennett, Professor Charles H Rodeck, Dr Mahesh Choolani; Leukemias,Lymphomas, and Other Related Disorders, Dr Janet D Rowley, Dr Yuri N KobzevIMMUNOLOGIC DISORDERS - David Rimoin Autoimmunity, Dr Henry Ehrlich;Systemic Lupus Erythematosus, Dr Betty P Tsao, Dr Bevra Hahn; RheumatoidArthritis 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 YangENDOCRINOLOGIC DISORDERS - David Rimoin Genetic Disorders of the PituitaryGland, Dr Chanda T Moseley, Dr John A Phillips III, Dr David L Rimoin;Thyroid Disorders, Dr Delbert Fisher; Parathyroid Disorders, Dr Geoffrey NHendy, Dr David EC Cole; Diabetes Mellitus, Dr Leslie J Raffel; GeneticDisorders of the Adrenal Gland, Dr Maria New; Disorders of the Gonads,Genital Tract and Genitalia, Dr Joe Leigh Simpson; Cancer of the Breast andFemale Reproductive Tract, Dr Michael Steel METABOLIC DISORDERS - DavidRimoin Disorders of the Body Mass, Dr Patricia Donohoue; Amino AcidMetabolism, Dr William R Wilcox, Dr Stephen D Cederbaum; Disorders ofCarbohydrate Metabolism, Dr Won G Ng, Dr Thomas Roe; Purine and PyrimidineMetabolism, Dr J Edwin Seegmiller; Lipoprotein and Lipid Metabolism, Dr AldonJ Lusis, Dr Boris Ivandic, Dr Lawrence W Castellani; Disorders of Fatty AcidTransport 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, DrRobert J Desnick, Dr Kenneth H Astrin, Dr Karl E Anderson; Copper Metabolism,Seymour Packman; Iron Metabolism and Related Disorders, Dr Jeffrey Gruen, DrThomas W Chu, Dr Christopher Bowlus; Mucopolysaccharidoses, Dr JurgenSpranger; Oligosaccharridoses and Allied Disorders, Dr Jules Leroy;Gangliosidoses and Related Lipid Storage Diseases, Dr Alan Percy; PeroxisomalDisorders, Professor Ronald J A Wanders, Professor P G Barth, Professor H S AHeymans MENTAL AND BEHAVIOURAL DISORDERS - Bruce Korf The Genetics ofPersonality, Dr Matthew McGue; Fragile X Syndrome and Other Causes ofX-linked Mental Handicap, Professor Grant R Sutherland, Dr John Mulley, DrJozef Gecz; Dyslexia and Other Specific Learning Disorders, Dr Shelley DSmith, Dr Jeffrey W Gilger, Dr Bruce F Pennington; Attention DeficitHyperactivity Disorder, Dr Steven Faraone, Dr Alysa Doyle; Autism and OtherBehavioral Disorders, Professor Emily Simonoff, Professor Sir Michael Rutter;Alzheimer Disease and Other Dementias, Dr Margaret Pericak-Vance, Dr AnneSaunders; Schizophrenia, Dr Dennis K Kinney; Major Mood Disorders, Dr MelvinG McInnis, Dr J Raymond DePaulo Jr; Addictive Disorders, Dr Tatiana Foroud,Dr Wade Berrettini NEUROLOGIC DISORDERS - Bruce Korf Clinical Genetics ofNeural Tube Defects and other Congenital Nervous System Malformations, DrJohn L Tolmie; Genetic Disorders of Cerebral Cortical Development, DrChristopher A Walsh, Dr Mohamed Sabry, Dr Ganeshwaran H Mochida; TheEpilepsies, Professor R M Gardiner, Dr Frances Elmslie, Dr Anna-ElinaLehesjoki; Basal Ganglia Disorders, Dr Michael R Hayden, Dr Berry Kremer;Hereditary Ataxias, Dr Puneet Opal, Dr Huda Zoghbi; Hereditary SpasticParaplegia, Dr John K Fink; Autonomic and Sensory Disorders, Dr FeliciaAxelrod; The Phakomatoses, Dr Bruce Korf; Multiple Sclerosis and OtherDemyelinating Disorders, Dr Dessa Sadovnick; Cerebrovascular Disorders, DrMartin Dichgans, Dr Anne Joutel; Primary Tumors of the Nervous System, DrStephan Pulst, Dr Daniel R Scoles NEUROMUSCULAR DISORDERS - Bruce KorfCongenital Muscular Dystrophies, Dr Eugenio Mercuri, Dr J Philpot, ProfessorVictor Dubowitz; Duchenne and Other X-linked Muscular Dystrophies, ProfessorAlan 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 DavidBeeson; Motor Neurone Diseases, Professor Teepu Siddique OPHTHALMOLOGICDISORDERS - Bruce Korf Color Vision Defects, Dr Samir S Deeb, Dr ArnoMotulsky; Optic Atrophy and Congenital Blindness, Dr Irene H Maumenee, DrVeronique J Arnould-Devuyst; Glaucoma, Dr Henry D Jampel, Dr Robert Nickells,Dr Donald J Zack; Defects of the Cornea, Dr Joel Sugar; Anomalies of theLens, 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 ALinn Murphree DEAFNESS - Bruce Korf Nonsyndromic and Syndromic Deafness, DrNathan Fischel-Ghodsian, Dr Rena Falk CRANIOFACIAL DISORDERS - Reed PyeritzCraniosynostosis, Dr Amy Feldman Lewanda, Dr Ethylin Jabs; CraniofacialDisorders, Dr M Michael Cohen DERMATOLOGIC DISORDERS - David RimoinAbnormalities of Pigmentation, Dr Richard A King; Ichthyosiform Dermatoses,Dr Howard P Baden, Dr David Avram; Epidermolysis Bullosa, Professor IAnton-Lamprecht, Professor Tobias Gedde-Dahl Jr; Ectodermal Dysplasias, DrJonathan Zonana; Other Genetic Disorders of the Skin, Dr Lowell A Goldsmith,Dr Lori Schaen; Skin Cancer, Professor Rhona MacKie CONNECTIVE TISSUEDISORDERS - Reed Pyeritz Marfan Syndrome and Other Disorders of Fibrillin,Dr Reed E Pyeritz; Ehlers-Danlos Syndrome, Dr Peter H Byers, Dr UlrikeSchwarze; Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa,Pseudoxanthoma Elasticum and Related Disorders, Dr Jouni Uitto, Dr LeenaPulkkinen SKELETAL DISORDERS - David Rimoin Chondrodysplasias, Dr David LRimoin, Dr Ralph Lachman, Dr Sheila Unger; Disorders of Bone Density, Volumeand Mineralization, Dr David Sillence; Abnormalities of Bone Structure, DrWilliam Horton; The Dysostoses, Dr Deborah Krakow; Arthrogryposes (MultipleCongenital Contractures), Dr Judith Hall; Common Skeletal Deformities, DrWilliam Horton; Hereditary Noninflammatory Arthropathies, Professor PeterBeighton
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