Practical genetic counselling:
Saved in:
| Main Author: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
London
Hodder Arnold
2010
|
| Edition: | 7. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis Klappentext |
| Physical Description: | 407 S. Ill., graph. Darst. |
| ISBN: | 9780340990698 0340990694 |
Staff View
MARC
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Record in the Search Index
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| adam_text | Contents
Preface
vii
Acknowledgements
viii
PART I General Aspects of Genetic Counselling
1.
Genetic Counselling: an Introduction
3
2.
Genetic Counselling in Mendelian Disorders
23
3.
Common Disorders and Genetic Counselling
54
4.
Chromosome Abnormalities
63
5.
Molecular Genetics and Genetic Counselling
81
6.
Dysmorphology and Genetic Syndromes
91
7.
Carrier Testing and Genetic Prediction
102
8.
Prenatal Diagnosis and Reproductive Aspects of Medical Genetics
115
9.
Special Issues in Genetic Counselling
135
10.
The Genetic Counselling Clinic
150
Part II Genetic Counselling: Specific Organ Systems
11.
Neuromuscular Disorders
167
12.
Central Nervous System Disorders
179
13.
Disorders of Mental Function
201
14.
Disorders of Bone and Connective Tissue
216
15.
Oral and Craniofacial Disorders
234
16.
The Skin
242
17.
The Eye
253
18.
Deafness
265
19.
Cardiovascular and Respiratory Disorders
271
20.
The Gastrointestinal Tract
287
21.
Renal and Urinary Tract Disease
297
22.
Endocrine and Reproductive Disorders
305
23.
Inborn Errors of Metabolism
317
24.
Disorders of Blood and Immune Function
325
25.
Genetic Risks in Cancer
334
26.
Environmental Hazards
348
Part III Genetic Counselling: the Wider Picture
27.
Population Aspects of Genetic Counselling and Genetic Screening
361
28.
Genetics and Society
375
Appendix: Useful Information in Connection with Genetic Counselling
385
Glossary
389
Index
395
Universally used across the world by genetic counsellors, medical geneticists and
clinicians alike. Practical Genetic Counselling has established itself as the essential
guide to counselling those at risk from inherited disorders.
increasingly, common disorders are known to have a genetic component and this
book provides invaluable and up to date guidance through the profusion of new
information in this area and the associated
psychosocial
and ethical considerations
and concerns.
Within its established, tried and trusted framework, the book contains updated
information on: developments in common disease genetics, new molecular
techniques and genetic counselling,
non
invasive prenatal diagnosis, the
molecular basis of congenital malformations, the history of genetic counselling
and the social and ethical aspects of advances in genetics.
Key features:
Fully updated to provide the very latest information when in a busy consulting
room or clinic
Clear and authoritative advice applicable to everyday clinical practice
Reflects the rapid development of knowledge in this area, including the
implications of the human genome project and related technology
The seventh edition of this popular, best selling text will continue to be an
essential source of reference for trainee and practitioner genetic counsellors,
medical geneticists and clinicians. It will provide also valuable background for
specialist nurses, counsellors, social scientists, ethicists as well as genetics
laboratory staff.
Peter S. Harper is University Research Professor (Emeritus) in Human Genetics,
Institute of Medical Genetics, Cardiff University, Cardiff, UK
|
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| edition | 7. ed. |
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| isbn | 9780340990698 0340990694 |
| language | English |
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| physical | 407 S. Ill., graph. Darst. |
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| spelling | Harper, Peter S. Verfasser (DE-588)111640806 aut Practical genetic counselling Peter S. Harper 7. ed. London Hodder Arnold 2010 407 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Genetic Counseling methods Genetic Diseases, Inborn genetics Genetische Beratung (DE-588)4020129-6 gnd rswk-swf Genetische Beratung (DE-588)4020129-6 s DE-604 Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024810328&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024810328&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Harper, Peter S. Practical genetic counselling Genetic Counseling methods Genetic Diseases, Inborn genetics Genetische Beratung (DE-588)4020129-6 gnd |
| subject_GND | (DE-588)4020129-6 |
| title | Practical genetic counselling |
| title_auth | Practical genetic counselling |
| title_exact_search | Practical genetic counselling |
| title_full | Practical genetic counselling Peter S. Harper |
| title_fullStr | Practical genetic counselling Peter S. Harper |
| title_full_unstemmed | Practical genetic counselling Peter S. Harper |
| title_short | Practical genetic counselling |
| title_sort | practical genetic counselling |
| topic | Genetic Counseling methods Genetic Diseases, Inborn genetics Genetische Beratung (DE-588)4020129-6 gnd |
| topic_facet | Genetic Counseling methods Genetic Diseases, Inborn genetics Genetische Beratung |
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