Emery and Rimoin's Principles and Practice of Medical Genetics [Elektronisk resurs] / edited by David L. Rimoin, Reed Pyeritz, Bruce Korf.

Basic principles -- Ch. 1 History of Medical Genetics / Victor A. McKusick, Peter S. Harper -- Ch. 2 Medicine in a Genetic Context / Barton Childs, Reed E. Pyeritz -- Ch. 3 Nature and Frequency of Genetic Disease/ Bruce R. Korf, David L. Rimoin, Reed E. Pyeritz -- Ch. 4 Genomics and Proteomics / Raju Kucherlapati -- Ch. 5 Genome and Gene Structure / Daniel H. Cohen -- Ch. 6 Epigenetics / Rosanna Weksberg, Darci T. Butcher, Daria Grafodatskaya, Sanaa Choufani, Benjamin Tycko -- Ch. 7 Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences / Stylianos E. Antonarakis, David N. Cooper -- Ch. 8 Genes in Families / Jackie Cook -- Ch. 9 Analysis of Genetic Linkage / Rita M Cantor -- Ch. 10 Chromosomal Basis of Inheritance / Fady M. Mikhail -- Ch. 11 Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging / Douglas C Wallace, Marie T Lott, Vincent Procaccio -- Ch. 12 Multifactorial Inheritance and Complex Diseases / Christine W. Duarte, Laura K. Vaughan, T. Mark Beasley, Hemant K. Tiwari -- Ch. 13 Population Genetics / Bronya J.B. Keats, Stephanie L. Sherman -- Ch. 14 Pathogenetics of Disease / Reed E. Pyeritz -- Ch. 15 Human Developmental Genetics / Wen-Hann Tan, Edward C. Gilmore, Hagit N. Baris -- Ch. 16 Twins and Twinning / Jodie N. Painter, Sarah J. Medland, Grant W. Montgomery, Judith G. Hall -- Ch. 17 The Molecular Biology of Cancer / Edward S. Tobias -- Ch. 18 The Biological Basis of Aging: Implications for Medical Genetics / Junko Oshima, George M. Martin, Fuki M. Hisama -- Ch. 19 Pharmacogenetics and Pharmacogenomics / Daniel W. Nebert, Elliot S. Vesell

General Principles -- Ch. 20 Genetic Evaluation for Common Diseases of Adulthood / Maren T. Scheuner, Shannon Rhodes -- Ch. 21 Genetic Counseling and Clinical Risk Assessment / R Lynn Holt, Angela Trepanier -- Ch. 22 Cytogenetic Analysis / Nancy B. Spinner, Malcolm A. Ferguson-Smith, David H. Ledbetter -- Ch. 23 Diagnostic Molecular Genetics / Wayne W. Grody, Joshua L. Deignan -- Ch. 24 Heterozygote Testing and Carrier Screening / Matthew J. McGinniss, Michael M. Kaback -- Ch. 25 Prenatal Screening for Neural Tube Defects and Aneuploidy / Amelia L.M. Sutton, Joseph R. Biggio -- Ch. 26 Techniques for Prenatal Diagnosis / Lee P. Shulman, Sherman Elias -- Ch. 27 Neonatal Screening / Richard W. Erbe, Harvey L. Levy -- Ch. 28 Therapies for Lysosomal Storage Diseases / Robert J. Desnick, Edward H. Schuchman, Kenneth H. Astrin, Seng H. Cheng -- Ch. 29 Gene Therapy: From Theoretical Potential to Clinical Implementation / Nicholas S .R. Sauderson, Maria G. Castro, Pedro R. Lowenstein -- Ch. 30 Ethical and Social Issues in Clinical Genetics / Angus John Clarke -- Ch. 31 Legal Issues in Genetic Medicine / Philip R. Reilly

Applications to Clinical Problems -- Ch. 32 Genetics of Female Infertility in Humans / Bala Bhagavath, Lawrence C. Layman -- Ch. 33 Genetics of Male Infertility / Csilla Krausz, Chiara Chianese, Ronald S. Swerdloff, Christina Wang -- Ch. 34 Fetal Loss / Rhona Schreck, John Williams III -- Ch. 35 A Clinical Approach to the Dysmorphic Child / Kenneth L. Jones, Marilyn C. Jones -- Ch. 36 Clinical Teratology / Jan M. Friedman, James W. Hanson -- Ch. 37 Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism / John B. Moeschler -- Ch. 38 Abnormal Body Size and Proportion / John M. Graham Jr, Deepika D'Cunha Burkardt, David L. Rimoin -- Ch. 39 Susceptibility and Response to Infection / Michael F. Murray -- Ch. 40 Transplantation Genetics / Steven Ringquist, Ying Lu, Massimo Trucco, Gaia Bellone -- Ch. 41 The Genetics of Disorders Affecting the Premature Newborn / Aaron Prosnitz, Jeffrey R. Gruen, Vineet Bhandari -- Ch. 42 Disorders of DNA Repair and Metabolism / Sharon E. Plon

Applications to Specific Disorders -- Pathways -- Chromosomal Disorders -- Cardiovascular Disorders -- Respiratory Disorders -- Renal Disorders -- Gastrointestinal Disorders -- Hematologic Disorders -- Endocrinologic Disorders -- Metabolic Disorders -- Mental and Behavioral Disorders -- Neurologic Disorders -- Neuromuscular Disorders -- Ophthalmologic Disorders -- Deafness -- Craniofacial Disorders -- Dermatologic Disorders -- Connective Tissue Disorders -- Skeletal Disorders

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application.