Emery's elements of medical genetics /
Elements of medical genetics
Peter D. Turnpenny, BSc, MB, ChB, FRCP, FRCPCH, FRCPath, FHEA, Consultant Clinical Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Honorary Clinical Professor, University of Exeter Medical School, Sian Ellard, BSc, PhD, FRCPath, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Professor of Molecular Genetics and Genomic Medicine, University of Exeter Medical School.
- Edition 15.
- [Philadelphia, PA] : Elsevier, [2017]
- x, 400 pages : illustrations.
Includes bibliographical references and index.
The history and impact of genetics in medicine -- Section A: The scientific basis of human genetics -- The cellular and molecular basis of inheritance -- Chromosomes and cell division -- Finding the cause of monogenic disorders by identifying disease genes -- Laboratory techniques for diagnosis of monogenic disorders -- Patterns of inheritance -- Population and mathematical genetics -- Risk calculation -- Developmental genetics -- Section B: Genetics in medicine and genomic medicine -- Common disease, polygenic and multifactorial genetics -- Screening for genetic disease -- Hemoglobin and the hemoglobinopathies -- Immunogenetics -- The genetics of cancer and cancer genetics -- Pharmacogenetics, personalized medicine and the treatment of genetic disease -- Section C: Clinical genetics, counseling, and ethics -- Congenital, abnormalities, dysmorphic syndromes, and learning disability -- Chromosome disorders -- Inborn errors of metabolism -- Mainstream monogenetic disorders -- Prenatal testing and reproductive genetics -- Genetic counseling -- Ethical and legal issues in medical genetics.