Emery's Elements of Medical Genetics
Autor Peter D Turnpenny, Sian Ellarden Limba Engleză Paperback – 6 feb 2017
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Specificații
ISBN-13: 9780702066856
ISBN-10: 0702066850
Pagini: 416
Ilustrații: Approx. 310 illustrations (200 in full color)
Dimensiuni: 195 x 252 x 19 mm
Greutate: 1.13 kg
Ediția:15
Editura: Elsevier
ISBN-10: 0702066850
Pagini: 416
Ilustrații: Approx. 310 illustrations (200 in full color)
Dimensiuni: 195 x 252 x 19 mm
Greutate: 1.13 kg
Ediția:15
Editura: Elsevier
Cuprins
Preface
Introduction
1 The history and impact of genetics in medicine
A. The Scientific Basis of Human Genetics
2 The cellular and molecular basis of inheritance
3 Chromosomes and cell division
4 Finding the cause of monogenic disorders by identifying disease genes
5 Laboratory techniques for diagnosis of monogenic disorders
6 Patterns of inheritance
7 Population and mathematical genetics
8 Risk calculation
9 Developmental genetics
B. Genetics in Medicine and Genomic Medicine
10 Common disease, polygenic and multifactorial genetics
11 Screening for genetic disease
12 Hemoglobin and hemoglobinopathies
13 Immunogenetics
14 The genetics of cancer . and cancer genetics
15 Pharmacogenetics, personalised medicine, and the treatment of genetic disease
C. Clinical Genetics, Counseling and Ethics
16 Congenital abnormalities, dysmorphic syndromes, and learning disability
17 Chromosome disorders
18 Inborn errors of metabolism
19 Mainstream monogenic disorders
20 Prenatal testing and reproductive genetics
21 Genetic counseling
22 Ethical and legal issues in medical genetics
Glossary
Appendix of websites
MCQs
Case-Based Qs
MCQ Answers
Case-Based Q Answers
Index
Introduction
1 The history and impact of genetics in medicine
A. The Scientific Basis of Human Genetics
2 The cellular and molecular basis of inheritance
3 Chromosomes and cell division
4 Finding the cause of monogenic disorders by identifying disease genes
5 Laboratory techniques for diagnosis of monogenic disorders
6 Patterns of inheritance
7 Population and mathematical genetics
8 Risk calculation
9 Developmental genetics
B. Genetics in Medicine and Genomic Medicine
10 Common disease, polygenic and multifactorial genetics
11 Screening for genetic disease
12 Hemoglobin and hemoglobinopathies
13 Immunogenetics
14 The genetics of cancer . and cancer genetics
15 Pharmacogenetics, personalised medicine, and the treatment of genetic disease
C. Clinical Genetics, Counseling and Ethics
16 Congenital abnormalities, dysmorphic syndromes, and learning disability
17 Chromosome disorders
18 Inborn errors of metabolism
19 Mainstream monogenic disorders
20 Prenatal testing and reproductive genetics
21 Genetic counseling
22 Ethical and legal issues in medical genetics
Glossary
Appendix of websites
MCQs
Case-Based Qs
MCQ Answers
Case-Based Q Answers
Index