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Eine Einführung in die klinische Anwendung der Genetik. Studenten unterer Semester finden Erläuterungen zu den Grundprinzipien, fortgeschrittene Studenten und Praktiker dürften sich für Fragen der Differentialdiagnostik und des Managements interessieren. Zur Vertiefung des Stoffes tragen zahlreiche Fallbeispiele mit Lösungen sowie 300 Fotos und Halbtonabbildungen bei.
List of contents
INHERITANCE AND PREDISPOSITION.
Introduction to Clinical Genetics: Genes, Traits, and Pedigrees.
Mendelian Inheritance.
Multifactorial Determination and the Genetics of Common Diseases.
Population Genetics.
Measuring Genetic Predisposition: Common Diseases, Pharmacogenetics, and Ecogenetics.
LABORATORY GENETICS, NEW DEVELOPMENTS.
From Gene to Trait: Levels of Genetic Information.
Genetics at the Chromosome Level: Cytogenetics.
Genetics at the DNA Level: Molecular Genetics and DNA Diagnosis.
Genetics at the Cellular Level: Developmental, Cancer, and Immunogenetics.
New Applications of Clinical Genetics: Atypical Inheritance Mechanisms and Gene Therapy.
CLINICAL GENETICS.
Pediatric Genetics: Birth Defects and Syndromology.
Pediatric Genetics: Inborn Errors of Metabolism.
Genetics in the Surgical Specialities.
Genetics and Adult Medicine.
Reproductive Genetics and Prenatal Diagnosis.
Genetics, Allied Health, and Preventive Management: The Clinical Genetics Care Pathway.
Glossary.
Index.
About the author
Golder N. Wilson, MD, PhD has spent 27 years in academic medicine, conducting NIH-sponsored laboratory research and being elected to the Society for Pediatric Research. Over the past decade, Dr. Wilson's interests have concerned clinical care and education, with particular focus on parent education and preventive management regarding children with mental disability and birth defect syndromes. He has produced a pioneering book with the developmental pediatrician Carl Cooley, M.D.: Preventive Management for Children with Birth Defects and Syndromes , published by Cambridge University Press. Dr. Wilson's focus is to interpret patterns of anomalies/genetic disorders pre- and post-natally, and to complement diagnosis with educational information and management checklists that optimize medical care for children with special health care needs.
