Robert L. Nussbaum,MD, FACP, FACMG, Holly Smith Chair of Medicine and Science, Professor of Medicine, Neurology, Pediatrics and Pathology, Department of Medicine and Institute for Human Genetics, University of California San Francisco, San Francisco, California, Roderick R. McInnes, CM, MD, PhD, FRS(C), FCAHS, FCCMG, Alva Chair in Human Genetics, Canada Ressearch Chair in Neurogenetics, Professor of Human Genetics and Biochemistry, Director, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada, Huntington F. Willard, PhD, President and Director, The Marine Biological Laboratory, Woods Hole, Massachusetts, and Professor of Human Genetics, University of Chicago, Chicago, Illinois ; with clinical cases updated by Ada Hamosh, MD, MPH, Professor of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Scientific Director, OMIM, Johns Hopkins University School of Medicine, Baltimore, Maryland.
EDITION STATEMENT
Edition Statement
Eighth edition.
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
Philadelphia :
Name of Publisher, Distributor, etc.
Elsevier,
Date of Publication, Distribution, etc.
2016
Date of Publication, Distribution, etc.
�2016
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
xi, 546 pages :
Other Physical Details
illustrations ;
Dimensions
28 cm
GENERAL NOTES
Text of Note
Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson.
INTERNAL BIBLIOGRAPHIES/INDEXES NOTE
Text of Note
Includes bibliographical references and index.
CONTENTS NOTE
Text of Note
Introduction to the human genome -- The human genome: gene structure and function -- Human genetic diversity: mutation and polymorphism -- Principles of clinical cytogenetics and genome analysis -- The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes -- Patterns of single-gene inheritance -- Complex inheritance of common multifactorial disorders -- Genetic variation in populations -- Identifying the genetic basis for human disease -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics.