دانلود کتاب اصول و تمرین ژنتیک پزشکی امری و رایمون
Emery and Rimoin’s Principles and Practice of Medical Genetics, 6ed

With the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies, this new edition of the definitive and trusted reference is an invaluable clinical tool for the practicing physician.

Description

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice.

With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application.

Readership

Medical and research libraries and institutions serving researchers of human genetics/genomics; cancer, neuroscience, metabolic, endocrinology, pharmacology, behaviour, immunology, hematology, orthopaedic, pediatric, gene therapy researchers; advanced students, specialists, and medical practitioners across medical disciplines as well systems biology, molecular medicine, and genetic epidemiology.

Key Features

• Features 174 review-length contributions that encompass traditional and new areas of the field – including in cancer genetics, genomic technologies, and molecular assays
• Provides many thousands of pertinent literature references guiding the reader in identifying related topics
• Fully illustrated with hundreds of color images, supporting identification, concept illustration and method processing

Contents

۱. Basic Principles
History of Medical Genetics
Medicine in a Genetic Context
Nature and Frequency of Genetic Disease
Genomics and Proteomics
Genome and Gene 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
Multifactorial Inheritance and Complex Diseases
Population Genetics
Pathogenetics of Disease
Human Developmental Genetics
Twins and Twinning
The Molecular Biology of Cancer
The Biological Basis of Aging: Implications for Medical Genetics
Pharmacogenetics and Pharmacogenomics
۲. General Principles
Genetic Evaluation for Common Diseases of Adulthood
Genetic Counseling and Clinical Risk Assessment
Cytogenetic Analysis
Diagnostic Molecular Genetics
Heterozygote Testing and Carrier Screening
Prenatal Screening for Neural Tube Defects and Aneuploidy
Techniques for Prenatal Diagnosis
Neonatal Screening
Therapies for Lysosomal Storage Diseases
Gene Therapy: From Theoretical Potential to Clinical Implementation
Ethical and Social Issues in Clinical Genetics
Legal Issues in Genetic Medicine
۳. Applications to Clinical Problems
Genetics of Female Infertility in Humans
Genetics of Male Infertility
Fetal Loss
A Clinical Approach to the Dysmorphic Child
Clinical Teratology
Neurodevelopmental Disabilities: Global Developmental Delay,Intellectual Disability, and Autism
Abnormal Body Size and Proportion
Susceptibility and Response to Infection
Transplantation Genetics
The Genetics of Disorders Affecting the Premature Newborn
Disorders of DNA Repair and Metabolism
۴. Applications to Specific Disorders
Chromosomal Disorders
Cardiovascular Disorders
Respiratory Disorders
Renal Disorders
Gastrointestinal Disorders
Hematologic Disorders
Endocrinologic Disorders
Metabolic Disorders
Mental and Behavioral Disorders
Neurologic Disorders
Neuromuscular Disorders
Ophthalmologic Disorders
Deafness
Craniofacial Disorders
Dermatologic Disorders
Connective Tissue Disorders
Skeletal Disorders
Pathways