Medical Genetics at a Glance
(Sprache: Englisch)
Medical Genetics at a Glance is an ideal introduction or concise, highly visual revision aidto genetics for medical students in the early years of their course, and for other students of molecular biology, genetics and genetic counselling.
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Medical Genetics at a Glance is an ideal introduction or concise, highly visual revision aidto genetics for medical students in the early years of their course, and for other students of molecular biology, genetics and genetic counselling.
Klappentext zu „Medical Genetics at a Glance “
The complex field of medical genetics is simplified in Medical Genetics at a Glance, with important scientific principles and clinical material broken into bite-sized chapters. This popular introduction and revision aid covers the core scientific principles relevant to an understanding of medical genetics and the clinical applications of this knowledge by discussing common genetic anomalies and their significance in clinical practice. This edition contains increased clinical relevance and features:Consideration of the latest practical and philosophical aspects of medical genetics
Full-colour illustrations to increase visual appeal
Self-assessment cases to make revision more rewarding and illustrate clinical applications of genetics
A popular and well structured approach to the molecular diagnostic techniques of modern genetics
An international author team based in the UK and USA
Medical Genetics at a Glance is an ideal introduction or concise, highly visual revision aid to genetics for medical students in the early years of their course, and for other students of molecular biology, genetics and genetic counselling. Zum Lernen und gezielten Wiederholen vor Prüfungen gleichermaßen geeignet, deckt der Text die wichtigsten wissenschaftlichen Prinzipien und klinischen Anwendungen ab. Häufige genetische Anomalien werden in dieser zweiten Auflage verstärkt hinsichtlich des klinischen Erscheinungsbildes und der praktischen Relevanz diskutiert.
Inhaltsverzeichnis zu „Medical Genetics at a Glance “
- Preface to the first edition- Preface to the second edition
- Acknowledgements
- List of abbreviations
Part 1 Cellular, molecular and developmental biology
1. Introduction and basic biology
2. The cell
3. The chromosomes
4. DNA structure
5. DNA replication
6. RNA structure
7. Production of messenger RNA
8. Protein synthesis
9. The cell cycle
10. Gametogenesis
11. Embryology
12. Body patterning
13. Sexual differentiation
Part 2 Medical genetics
14. The place of genetics in medicine
15. Mendel's laws
16. Autosomal dominant inheritance, principles
17. Autosomal dominant inheritance, clinical examples
18. Autosomal recessive inheritance, principles
19. Autosomal recessive inheritance, clinical examples
20. Aspects of dominance
21. Genomic imprinting and dynamic mutation
22. X-linked inheritance
23. Sex-related disorders other than X-linked
24. Autosomal aneuploidies
25. Sex chromosome aneuploidies
26. Chromosome structural abnormalities
27. Chromosome structural abnormalities, clinical examples
28. Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation
29. Congenital abnormalities arising at the fetal stage
30. Principles of multifactorial disease
31. Multifactorial disease in children
32. The common disorders of adult life
33. Twin studies
34. Normal polymorphism
35. Allele frequency
36. Genetic linkage
37. Gene mapping
38. Mutagenesis and DNA repair
39. Mutations
40. The molecular biology of cancer
41. Familial cancers
42. Immunogenetics
43. Genetic disorders of the immune system
44. Biochemical genetics: part 1
45. Biochemical genetics: part 2
Part 3 Clinical applications of genetics
46. Clinical applications of genetics: an overview
47. Pedigree drawing
48. Risk assessment
49. Dysmorphology
50. Chromosome analysis
51. Biochemical diagnosis
52. Reproductive genetic counselling
53. Prenatal sampling
54. Clinical application of linkage
55. DNA sequencing
56. Southern
... mehr
blotting
57. The polymerase chain reaction
58. DNA profiling
59. Management of genetic disease
60. Avoidance and prevention of disease
61. Ethical and social issues in clinical genetics
- Self-assessment case studies: questions
- Self-assessment case studies: answers
- Glossary
- Appendix: information sources and resources
- Index
57. The polymerase chain reaction
58. DNA profiling
59. Management of genetic disease
60. Avoidance and prevention of disease
61. Ethical and social issues in clinical genetics
- Self-assessment case studies: questions
- Self-assessment case studies: answers
- Glossary
- Appendix: information sources and resources
- Index
... weniger
Autoren-Porträt von Dorian J. Pritchard, Bruce R. Korf
Dorian Pritchard, Senior Lecturer in Medical Genetics and Visiting Lecturer in Medical Genetics at the International Medical University, Kualur Lumpa (retired)Bruce Korf, Professor and Chairman of the Department of Genetics, University of Alabama.
Bibliographische Angaben
- Autoren: Dorian J. Pritchard , Bruce R. Korf
- 2007, 2nd ed., 168 Seiten, Kartoniert (TB), Englisch
- Verlag: Wiley & Sons
- ISBN-10: 1405148462
- ISBN-13: 9781405148467
- Erscheinungsdatum: 14.03.2008
Sprache:
Englisch
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