Emery and Rimoin's principles and practice of medical genetics and genomics: foundations / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.

Format:

Book

Contributor:

Pyeritz, Reed E., editor.

Korf, Bruce R., editor.

Grody, Wayne W., editor.

Standardized Title:

Emery and Rimoin's principles and practice of medical genetics.

Language:

English

Subjects (All):

Medical genetics.

Genetic disorders.

Genomics.

Genetics, Medical.

Genetic Diseases, Inborn.

Medical Subjects:

Genetics, Medical.

Genetic Diseases, Inborn.

Genomics.

Genre:

Internet Resources.

Portraits.

Physical Description:

1 online resource (lxiii, 507 pages) : illustrations (some color), portraits

Edition:

Seventh edition.

Other Title:

Foundations

Principles and practice of medical genetics and genomics

Place of Publication:

London, U.K. : Academic Press is an imprint of Elsevier, [2019]

System Details:

data file

Summary:

"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers"--Publisher's description

Contents:

History of medical genetics

Medicine in a genetic context

Precision medicine

Nature and frequency of genetic disease

Genome and gene structure

Genome structure

Epigenetics

Human gene mutation in inherited disease: molecular mechanisms and clinical consequences

Genes in families

Analysis of genetic linkage

Chromosomal basis of inheritance

Mitochondrial medicine: the mitochondrial biology and genetics of metabolic and degenerative diseases, cancer, and aging

Mitochondrial biology

split of above chapter

Mitochondrial disorders

Multifactorial inheritance and complex diseases

Immunologic disorders: autoimmunity: genetics and immunologic mechanisms

Population genetics

Pathogenetics of disease

Twins and twinning

The biological basis of aging: implications for medical genetics

Pharmacogenetics and pharmacogenomics.

Notes:

Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019].

Preceded by Emery and Rimoin's principles and practice of medical genetics / edited by David L. Rimoin, Read E. Pyeritz, Bruce R. Korf. Sixth edition. 2013.

Includes bibliographical references and index.

Online resource; title from electronic title page (ScienceDirect, viewed December 12, 2018).

Other Format:

Print version: Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations.

ISBN:

9780128126851

012812685X

OCLC:

1076269081

Access Restriction:

Restricted for use by site license.