Thompson & Thompson genetics in medicine / 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.

Format:

Book

Author/Creator:

Nussbaum, Robert L., 1950- author.

McInnes, Roderick R., author.

Willard, Huntington F., author.

Language:

English

Subjects (All):

Medical genetics.

Genetics, Medical.

Medical Subjects:

Genetics, Medical.

Physical Description:

xi, 546 pages : illustrations ; 28 cm

Edition:

Eighth edition.

Other Title:

Genetics in medicine

Thompson and Thompson genetics in medicine

Place of Publication:

Philadelphia : Elsevier, [2016]

Contents:

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.

Notes:

Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson.

Includes bibliographical references and index.

ISBN:

9781437706963

1437706967

OCLC:

904942499