Emery's elements of medical genetics:
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Edinburgh [u.a.]
Churchill Livingstone
1998
|
| Ausgabe: | 10. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | 369 S. Ill., graph. Darst. |
| ISBN: | 0443059020 0443059519 |
Internformat
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV012019711 | ||
| 003 | DE-604 | ||
| 005 | 19981218 | ||
| 007 | t | ||
| 008 | 980624s1998 ad|| |||| 00||| eng d | ||
| 020 | |a 0443059020 |9 0-443-05902-0 | ||
| 020 | |a 0443059519 |9 0-443-05951-9 | ||
| 035 | |a (OCoLC)37616778 | ||
| 035 | |a (DE-599)BVBBV012019711 | ||
| 040 | |a DE-604 |b ger |e rakddb | ||
| 041 | 0 | |a eng | |
| 050 | 0 | |a RB155 | |
| 082 | 0 | |a 616/.042 |2 21 | |
| 084 | |a WG 7200 |0 (DE-625)148614: |2 rvk | ||
| 100 | 1 | |a Mueller, Robert F. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Emery's elements of medical genetics |c Robert F. Mueller ; Ian D. Young |
| 246 | 1 | 3 | |a Elements of medical genetics |
| 250 | |a 10. ed. | ||
| 264 | 1 | |a Edinburgh [u.a.] |b Churchill Livingstone |c 1998 | |
| 300 | |a 369 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 7 | |a Medische genetica |2 gtt | |
| 650 | 4 | |a Genetic Diseases, Inborn | |
| 650 | 4 | |a Genetic disorders | |
| 650 | 4 | |a Genetics, Medical | |
| 650 | 4 | |a Medical genetics | |
| 650 | 0 | 7 | |a Humangenetik |0 (DE-588)4072653-8 |2 gnd |9 rswk-swf |
| 689 | 0 | 0 | |a Humangenetik |0 (DE-588)4072653-8 |D s |
| 689 | 0 | |5 DE-604 | |
| 700 | 1 | |a Young, Ian D. |e Verfasser |4 aut | |
| 700 | 1 | |a Emery, Alan E. H. |e Sonstige |4 oth | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008135474&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-008135474 | ||
Datensatz im Suchindex
| _version_ | 1804126617877872640 |
|---|---|
| adam_text | Contents
Section A Principles of human genetics 1
1 The history and impact of genetics in medicine 3
Early beginnings
Gregor Mendel and the laws of inheritance
The chromosomal basis of inheritance
The fruit fly
The origins of medical genetics
Classification of genetic disease
Definitions
The impact of genetic disease
Major new developments
2 The cellular and molecular basis of inheritance 11
Introduction
The nucleus
DNA: the hereditary material
Chromosome structure
Types of DNA sequences
Transcription
Translation
The genetic code
Regulation of gene expression
RNA directed DNA synthesis
Mutations
Mutagens and mutagenesis
DNA repair
3 Chromosomes 29
Introduction
Chromosome structure
Chromosome number
The sex chromosomes
Methods of chromosome analysis
Molecular cytogenetics
Mitosis
The cell cycle
Meiosis
Gametogenesis
Chromosome abnormalities
Chromosome nomenclature
4 Recombinant DNA technology 55
Introduction
Principles of recombinant DNA technology
Methods of DNA analysis
Applications of recombinant DNA technology
Possible biological hazards of recombinant DNA
technology
5 Developmental genetics 81
Introduction
Fertilization and gastrulation
Molecular aspects of development
Developmental genes in vertebrates
The limb as a developmental model
Developmental genes and cancer
Position effects and developmental genes
Hydatidiform moles
Sexual differentiation and determination
Twinning
6 Patterns of inheritance 97
Family studies
Mendelian inheritance
Non Mendelian inheritance
7 Mathematical and population genetics 113
Introduction
Allele frequencies in populations
Genetic polymorphism
Segregation analysis
Genetic linkage
Medical and societal intervention
8 Polygenic and multifactorial inheritance 127
Introduction
Polygenic inheritance and the normal distribution
Multifactorial inheritance — the liability/threshold
model
Heritability
Identifying genes which cause multifactorial
disorders
Insulin dependent diabetes mellitus — a model for
multifactorial inheritance
Conclusion
Section B Genetics in medicine 135
9 Haemoglobin and the haemoglobinopathies 137
Introduction
CONTENTS
Structure of haemoglobin
Developmental expression of haemoglobin
Globin chain structure
Synthesis and control of haemoglobin expression
Disorders of haemoglobin structure
Disorders of haemoglobin synthesis
Clinical variation of the haemoglobinopathies
10 Biochemical genetics 151
Introduction
The inborn errors of metabolism
Disorders of amino acid metabolism
Disorders of branched chain amino acid metabolism
Urea cycle disorders
Disorders of carbohydrate metabolism
Disorders of steroid metabolism
Lipid metabolism
Lysosomal storage disorders
Purine/pyrimidine metabolism
Porphyrin metabolism
Organic acid disorders
Copper metabolism
Peroxisomal disorders
Prenatal diagnosis of the inborn errors of metabolism
11 Pharmacogenetics 169
Definition
Genetics in drug metabolism
Genetic variations revealed solely by the effects of
drugs
Hereditary disorders with altered drug response
Evolutionary origin of variation in drug responses
Ecogenetics
Disease susceptibility
12 Immunogenetics 177
The immune system
Immunoglobulins
Inherited immunodeficiency disorders
The complement system
Blood groups
Transplantation genetics
13 The genetics of cancer 189
Introduction
Environmental factors
Differentiating between genetic and environmental
factors in cancer
Oncogenes
Tumour suppressor genes
Mismatch repair genes
Familial cancer
14 Genetic factors in common diseases 209
Introduction
Genetic susceptibility to common disease
Diabetes mellitus
Hypertension
Coronary artery disease
Schizophrenia
Affective disorders
Alzheimer s disease
15 Genetics and congenital abnormalities 223
Introduction
Incidence
Definitions and classification of birth defects
Genetic causes of malformations
Environmental agents (teratogens)
Malformations of unknown cause
Section C Clinical genetics 235
16 Genetic counselling 237
Introduction
Definition
Establishing the diagnosis
Calculating and presenting the risk
Discussing the options
Communication and support
Genetic counselling — directive or non directive?
Outcomes in genetic counselling
Special problems in genetic counselling
17 Chromosome disorders 245
Introduction
Incidence of chromosome abnormalities
Disorders of the autosomes
Disorders of the sex chromosomes
Disorders of sexual differentiation
Chromosome breakage syndromes
Indications for chromosome analysis
18 Single gene disorders 265
Introduction
Huntington s disease
Myotonic dystrophy
Hereditary motor and sensory neuropathy
Neurofibromatosis
Cystic fibrosis
Spinal muscular atrophy
Duchenne muscular dystrophy
Haemophilia
19 Carrier detection and presymptomatic
diagnosis 283
Introduction
Carrier testing for autosomal recessive and X linked
disorders
Presymptomatic diagnosis of autosomal dominant
disorders
Ethical considerations in carrier detection and
predictive testing
20 Risk calculation 291
Introduction
Probability theory
Autosomal dominant inheritance
Autosomal recessive inheritance
Sex linked recessive inheritance
The use of linked markers
Empiric risks
21 Prenatal diagnosis of genetic disease 301
Introduction
Techniques used in prenatal diagnosis
New prenatal diagnostic techniques under
development
Indications for prenatal diagnosis
Special problems in prenatal diagnosis
Termination of pregnancy
Prenatal treatment
22 Population screening and community genetics 311
Introduction
Criteria for a screening programme
Prenatal screening
Neonatal screening
Population carrier screening
CONTENTS
Positive and negative aspects of population
screening
Genetic registers
23 The human genome project, treatment of genetic
disease and gene therapy 319
The human genome project
Treatment of genetic disease
Therapeutic applications of recombinant DNA
technology
Gene therapy
24 Ethical considerations 333
Introduction
General principles
Common ethical dilemmas in clinical genetics
Conclusion
Appendix: Internet websites and clinical
databases 339
Glossary 341
Index 355
|
| any_adam_object | 1 |
| author | Mueller, Robert F. Young, Ian D. |
| author_facet | Mueller, Robert F. Young, Ian D. |
| author_role | aut aut |
| author_sort | Mueller, Robert F. |
| author_variant | r f m rf rfm i d y id idy |
| building | Verbundindex |
| bvnumber | BV012019711 |
| callnumber-first | R - Medicine |
| callnumber-label | RB155 |
| callnumber-raw | RB155 |
| callnumber-search | RB155 |
| callnumber-sort | RB 3155 |
| callnumber-subject | RB - Pathology |
| classification_rvk | WG 7200 |
| ctrlnum | (OCoLC)37616778 (DE-599)BVBBV012019711 |
| dewey-full | 616/.042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616/.042 |
| dewey-search | 616/.042 |
| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| edition | 10. ed. |
| format | Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01588nam a2200445 c 4500</leader><controlfield tag="001">BV012019711</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">19981218 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">980624s1998 ad|| |||| 00||| eng d</controlfield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">0443059020</subfield><subfield code="9">0-443-05902-0</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">0443059519</subfield><subfield code="9">0-443-05951-9</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)37616778</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV012019711</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rakddb</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RB155</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616/.042</subfield><subfield code="2">21</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">WG 7200</subfield><subfield code="0">(DE-625)148614:</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Mueller, Robert F.</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Emery's elements of medical genetics</subfield><subfield code="c">Robert F. Mueller ; Ian D. Young</subfield></datafield><datafield tag="246" ind1="1" ind2="3"><subfield code="a">Elements of medical genetics</subfield></datafield><datafield tag="250" ind1=" " ind2=" "><subfield code="a">10. ed.</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Edinburgh [u.a.]</subfield><subfield code="b">Churchill Livingstone</subfield><subfield code="c">1998</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">369 S.</subfield><subfield code="b">Ill., graph. Darst.</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Medische genetica</subfield><subfield code="2">gtt</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic Diseases, Inborn</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic disorders</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetics, Medical</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Medical genetics</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Humangenetik</subfield><subfield code="0">(DE-588)4072653-8</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Humangenetik</subfield><subfield code="0">(DE-588)4072653-8</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="5">DE-604</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Young, Ian D.</subfield><subfield code="e">Verfasser</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Emery, Alan E. H.</subfield><subfield code="e">Sonstige</subfield><subfield code="4">oth</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">HBZ Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008135474&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-008135474</subfield></datafield></record></collection> |
| id | DE-604.BV012019711 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:20:18Z |
| institution | BVB |
| isbn | 0443059020 0443059519 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-008135474 |
| oclc_num | 37616778 |
| open_access_boolean | |
| physical | 369 S. Ill., graph. Darst. |
| publishDate | 1998 |
| publishDateSearch | 1998 |
| publishDateSort | 1998 |
| publisher | Churchill Livingstone |
| record_format | marc |
| spelling | Mueller, Robert F. Verfasser aut Emery's elements of medical genetics Robert F. Mueller ; Ian D. Young Elements of medical genetics 10. ed. Edinburgh [u.a.] Churchill Livingstone 1998 369 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Medische genetica gtt Genetic Diseases, Inborn Genetic disorders Genetics, Medical Medical genetics Humangenetik (DE-588)4072653-8 gnd rswk-swf Humangenetik (DE-588)4072653-8 s DE-604 Young, Ian D. Verfasser aut Emery, Alan E. H. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008135474&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Mueller, Robert F. Young, Ian D. Emery's elements of medical genetics Medische genetica gtt Genetic Diseases, Inborn Genetic disorders Genetics, Medical Medical genetics Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4072653-8 |
| title | Emery's elements of medical genetics |
| title_alt | Elements of medical genetics |
| title_auth | Emery's elements of medical genetics |
| title_exact_search | Emery's elements of medical genetics |
| title_full | Emery's elements of medical genetics Robert F. Mueller ; Ian D. Young |
| title_fullStr | Emery's elements of medical genetics Robert F. Mueller ; Ian D. Young |
| title_full_unstemmed | Emery's elements of medical genetics Robert F. Mueller ; Ian D. Young |
| title_short | Emery's elements of medical genetics |
| title_sort | emery s elements of medical genetics |
| topic | Medische genetica gtt Genetic Diseases, Inborn Genetic disorders Genetics, Medical Medical genetics Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Medische genetica Genetic Diseases, Inborn Genetic disorders Genetics, Medical Medical genetics Humangenetik |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008135474&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT muellerrobertf emeryselementsofmedicalgenetics AT youngiand emeryselementsofmedicalgenetics AT emeryalaneh emeryselementsofmedicalgenetics AT muellerrobertf elementsofmedicalgenetics AT youngiand elementsofmedicalgenetics AT emeryalaneh elementsofmedicalgenetics |