Rimoin David L., Pyeritz Reed E., Korf Bruce R. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics

6th edition. — Academic Press, 2013. — 4670 p. — ISBN: 978-0-12-383834-6.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 p. 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.Basic Principles
History of Medical Genetics
Medicine in a Genetic Context
Nature and Frequency of Genetic Disease
Genomics and Proteomics
Genome and Gene Structure
Epigenetics
Human Gene Mutation in Inherited Disease
Genes in Families
Analysis of Genetic Linkage
Chromosomal Basis of Inheritance
Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging
Multifactorial Inheritance and Complex Diseases
Population Genetics
Pathogenetics of Disease
General Principles
Genetic Evaluation for Common Diseases of Adulthood
Genetic Counseling and Clinical Risk Assessment
Cytogenetic Analysis
Diagnostic Molecular Genetics
Heterozygote Testing and Carrier Screening
Prenatal Screening for Neural Tube Defects and Aneuploidy
Techniques for Prenatal Diagnosis
Neonatal Screening
Therapies for Lysosomal Storage Diseases
Gene Therapy: From Theoretical Potential to Clinical Implementation
Ethical and Social Issues in Clinical Genetics
Legal Issues in Genetic Medicine
Applications to Clinical Problems
Genetics of Female Infertility in Humans
Genetics of Male Infertility
Fetal Loss
A Clinical Approach to the Dysmorphic Child
Clinical Teratology
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