9780323040358

Medical Genetics Updated Edition for 2006 - 2007 , Edition 3

by ; ;
  • ISBN13:

    9780323040358

  • ISBN10:

    0323040357

  • Format: Nonspecific Binding
  • Copyright: 2005-11-03
  • Publisher: MOSBY

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Supplemental Materials

What is included with this book?

Summary

The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Covers ethical, legal, and social issues relevant to medical genetics. Provides clinical commentary on important genetic diseases. Demonstrates Clinical relevance in over 250 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Includes STUDENT CONSULT access: www.studentconsult.com is an innovative website that allows you to build a personalized, fully integrated, online library, where you'll find... The entire contents of every STUDENT CONSULT title you purchase. Powerful search capabilities- View all excerpts relevant to keyword or subject searches (up to 300 words per hit) from every book in the series. Image library POCKET Consult- Download portions of your personal library onto your handheld. Student resources- Sharpen your skills, stay informed, and have fun! More! Updates all references to books, journals, and websites. Provides the latest information on the 'final' human genome sequence, new technologies and recent discoveries to keep you up to date in these important areas.

Table of Contents

Background and History
1(5)
What is Medical Genetics?
1(1)
Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?
1(1)
A Brief History
1(2)
Types of Genetic Diseases
3(1)
The Clinical Impact of Genetic Disease
4(2)
Basic Cell Biology: Structure and Function of Genes and Chromosomes
6(23)
DNA, RNA, and Proteins: Heredity at the Molecular Level
6(11)
The Structure of Genes and the Genome
17(5)
The Cell Cycle
22(7)
Genetic Variation: Its Origin and Detection
29(28)
Mutation: The Source of Genetic Variation
29(12)
Detection and Measurement of Genetic Variation
41(16)
Autosomal Dominant and Recessive Inheritance
57(31)
Basic Concepts of Formal Genetics
57(6)
Autosomal Dominant Inheritance
63(2)
Autosomal Recessive Inheritance
65(3)
Factors That May Complicate Inheritance Patterns
68(15)
Consanguinity in Human Populations
83(5)
Sex-Linked and Mitochondrial Inheritance
88(19)
X Inactivation
88(2)
Sex-Linked Inheritance
90(11)
Sex-Limited and Sex-Influenced Traits
101(1)
Mitochondrial Inheritance
101(6)
Clinical Cytogenetics: The Chromosomal Basis of Human Disease
107(29)
Cytogenetic Technology and Nomenclature
107(4)
Abnormalities of Chromosome Number
111(9)
Chromosome Abnormalities and Pregnancy Loss
120(2)
Abnormalities of Chromosome Structure
122(8)
Chromosome Abnormalities and Clinical Phenotypes
130(2)
Cancer Cytogenetics
132(1)
Chromosome Instability Syndromes
133(3)
Biochemical Genetics: Disorders of Metabolism
136(24)
Variants of Metabolism
136(3)
Defects of Metabolic Processes
139(16)
Pharmacogenetics
155(5)
Gene Mapping and Cloning
160(33)
Genetic Mapping
161(13)
Physical Mapping and Cloning
174(19)
Immunogenetics
193(16)
The Immune Response: Basic Concepts
193(5)
Immune Response Proteins: Genetic Basis of Structure and Diversity
198(2)
The Major Histocompatibility Complex
200(5)
The ABO and Rh Blood Groups
205(1)
Immunodeficiency Diseases
206(3)
Developmental Genetics
209(19)
Development: Basic Concepts
209(1)
Genetic Mediators of Development: The Molecular Toolbox
210(6)
Pattern Formation
216(12)
Cancer Genetics
228(20)
Causes of Cancer
229(1)
Cancer Genes
230(2)
Major Classes of Cancer Genes
232(6)
Identification of Inherited Cancer Genes
238(8)
Molecular Basis of Cancer
246(1)
Is Genetic Inheritance Important in Common Cancers?
246(2)
Multifactorial Inheritance and Common Diseases
248(30)
Principles of Multifactorial Inheritance
248(7)
Nature and Nurture: Disentangling the Effects of Genes and Environment
255(3)
The Genetics of Common Diseases
258(20)
Genetic Testing and Gene Therapy
278(27)
Population Screening for Genetic Disease
278(6)
Molecular Tools for Screening and Diagnosis
284(4)
Prenatal Diagnosis of Genetic Disorders and Congenital Defects
288(7)
Fetal Treatment
295(1)
Gene Therapy
296(9)
Clinical Genetics and Genetic Counseling
305(22)
The Principles and Practice of Clinical Genetics
305(11)
Dysmorphology and Clinical Teratology
316(5)
Bioethics and Medical Genetics
321(6)
Answers to Study Questions 327(12)
Glossary 339(14)
Index 353

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