Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

VOLUME 1 PART 1 BASIC PRINCIPLES: History of Medical Genetics. Nature and Frequency of Genetic Disease. Gene Structure and Function. Mutations in Human Diseases: Nature and Consequences . Molecular Methodology. Mendelian Inheritance. Segregation Analysis. Analysis of Genetic Linkage. Genomics. Morbid Anatomy of the Human Genome. Chromosomal Basis of Inheritance. Cytogenetic Analysis. Mitochondrial Genetics. Multifactorial Inheritance and Genetic Analysis of Multifactorial Disease. Population Genetics. Pathogenesis of Genetic Disease. Genetic Epidemiology. Human Malformations. Twins and Twinning. The Molecular Biology of Cancer. The Biologic Basis of Ageing: Implications for Medical Genetics. Pharmacogenetics. The Human Major Histocompatibility Complex and Disease Susceptibility. PART II CLINICAL APPLICATIONS: GENERAL PRINCIPLES: Genetic Assessment and Pedigree Analysis. Risk Estimation in Genetic Counseling. Carrier Screening. Prenatal Screening for Neural Tube Defects and Down Syndrome. Prenatal Diagnosis. Neonatal Screening. Genetic Counseling. Strategies for the Treatment of Genetic Disease. Ethical Aspects of Genetic Screening and Diagnosis. Legal Issues in Genetics. APPROACHES to COMMON CLINICAL PROBLEMS: Infertility. Fetal Loss. A Clinical Approach to the Dysmorphic Child. Human Teratology. Abnormal Mental Development. Abnormal Body Size and Proportion. Transplantation Genetics. APPROACHES to SPECIFIC DISORDERS:: Cardiovascular Disorders: Congenital Heart Disease. Common Generic Determinants of Coagulation and Fibrinolysis. Cardiomyopathies. Familial Dysrhythmias. Molecular Genetics of Hypertension. Pre-Eclampsia. Chromosome Disorders: Down Syndrome and Other Autosomal Trisomies. Sex Chromosome Abnormalities. Deletions and Other Structural Abnormalities of the Autosomes. Connective Tissue Disorders: Marfan Syndrome and Other Disorders of Fibrillin. Ehlers-Danlos Syndrome. Pseudoxanthoma Elasticu M, Cutix Laxa, And Other Disorders of Elastic Tissue. Craniofacial Disorders: Craniofacial Disorders. Deafn