1 x 1 der klinischen Genetik:
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | German |
| Veröffentlicht: |
Berlin
Lehmanns Media
2011
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | 160 S. Ill., graph. Darst. 21 cm |
| ISBN: | 9783865413130 |
Internformat
MARC
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| 100 | 1 | |a Müller, Torben Christoph |d 1984- |e Verfasser |0 (DE-588)143974408 |4 aut | |
| 245 | 1 | 0 | |a 1 x 1 der klinischen Genetik |c Torben Christoph Müller |
| 264 | 1 | |a Berlin |b Lehmanns Media |c 2011 | |
| 300 | |a 160 S. |b Ill., graph. Darst. |c 21 cm | ||
| 336 | |b txt |2 rdacontent | ||
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| 650 | 0 | 7 | |a Humangenetik |0 (DE-588)4072653-8 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
| _version_ | 1804145683585826816 |
|---|---|
| adam_text | Titel: 1x1 der klinischen Genetik
Autor: Müller, Torben Christoph
Jahr: 2011
Inhaltsverzeichnis
Vorwort
A
Allgemeiner Teil 9
Veränderungen des Genoms 9
Mutationen 9
Strukturelle und numerische Chromosomenaberrationen 10
Vererbungslehre 14
Die Mendelschen Gesetze 14
Autosomale Vererbung 17
Gonosomale Vererbung 20
Mitochondriale Vererbung 23
Diagnostik und Methoden der Gentechnik 25
PCR, Gelelektrophorese, Southern Blot 25
Zellzyklus, Zytogenese, FISH 29
Sequenzierung 37
B
Klinische Genetik 39
Autosomale numerische Chromosomenstörungen 40
Trisomie 21 - Down-Syndrom 40
Trisomien 13 (Pätau-Syndrom) und 18 (Edwards-Syndrom) 46
Gonosomale numerische Chromosomenstörungen 52
Klinefelter-Syndrom 52
Ullrich-Turner-Syndrom 54
Triple-X-Syndrom 57
Strukturelle Chromosomenstörungen (Mikrodeletions-
syndrome) 60
Cri-du-Chat-Syndrom 60
Wolf-Hirschhorn-Syndrom 61
Williams-Beuren-Syndrom 62
Genomisches Imprinting 65
Prader-Willi-Syndrom 65
Angelman-Syndrom 67
Teratogene Faktoren 70
Intrauterine Infektionen 70
Medikamente und Drogen 73
Physikalische Ursachen 76
Muskuläre Erkrankungen 78
Muskeldystrophien Duchenne und Becker 78
Myotone Dystrophie Typ 1 84
Mentale Retardierung 89
Fragiles-X-Syndrom 89
Rett-Syndrom 93
Familiäre Krebserkrankungen 97
Erblicher Brust- und Ovarialkrebs 97
Familiärer Darmkrebs 102
Multiple endokrine Neoplasien (MEN) 108
Endokrinologische Erkrankungen 113
Phenylketonurie (PKU) 113
Adrenogenitales Syndrom (AGS) 119
Hämatologische Erkrankungen 124
Thalassämien 124
Hämophilien 128
Von-Willebrand-Syndrom 129
Erkrankungen der Haut und des Bindegewebes
(Harmatosen) 133
Neurofibromatose Typ 1 133
Neurofibromatose Typ 2 136
Marfan-Syndrom 138
Andere genetische Erkrankungen 142
Chorea Huntington 142
Hämochromatose 148
Cystische Fibrose (Mukoviszidose) 152
Register 159
|
| any_adam_object | 1 |
| author | Müller, Torben Christoph 1984- |
| author_GND | (DE-588)143974408 |
| author_facet | Müller, Torben Christoph 1984- |
| author_role | aut |
| author_sort | Müller, Torben Christoph 1984- |
| author_variant | t c m tc tcm |
| building | Verbundindex |
| bvnumber | BV037393522 |
| classification_rvk | WG 7000 XG 2203 |
| ctrlnum | (OCoLC)712595574 (DE-599)DNB1009809466 |
| dewey-full | 616.042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.042 |
| dewey-search | 616.042 |
| dewey-sort | 3616.042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| format | Book |
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| id | DE-604.BV037393522 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T23:23:21Z |
| institution | BVB |
| isbn | 9783865413130 |
| language | German |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-022546362 |
| oclc_num | 712595574 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-20 DE-578 DE-19 DE-BY-UBM |
| owner_facet | DE-355 DE-BY-UBR DE-20 DE-578 DE-19 DE-BY-UBM |
| physical | 160 S. Ill., graph. Darst. 21 cm |
| publishDate | 2011 |
| publishDateSearch | 2011 |
| publishDateSort | 2011 |
| publisher | Lehmanns Media |
| record_format | marc |
| spelling | Müller, Torben Christoph 1984- Verfasser (DE-588)143974408 aut 1 x 1 der klinischen Genetik Torben Christoph Müller Berlin Lehmanns Media 2011 160 S. Ill., graph. Darst. 21 cm txt rdacontent n rdamedia nc rdacarrier Humangenetik (DE-588)4072653-8 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Humangenetik (DE-588)4072653-8 s Erbkrankheit (DE-588)4015106-2 s DE-604 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=022546362&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Müller, Torben Christoph 1984- 1 x 1 der klinischen Genetik Humangenetik (DE-588)4072653-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4072653-8 (DE-588)4015106-2 |
| title | 1 x 1 der klinischen Genetik |
| title_auth | 1 x 1 der klinischen Genetik |
| title_exact_search | 1 x 1 der klinischen Genetik |
| title_full | 1 x 1 der klinischen Genetik Torben Christoph Müller |
| title_fullStr | 1 x 1 der klinischen Genetik Torben Christoph Müller |
| title_full_unstemmed | 1 x 1 der klinischen Genetik Torben Christoph Müller |
| title_short | 1 x 1 der klinischen Genetik |
| title_sort | 1 x 1 der klinischen genetik |
| topic | Humangenetik (DE-588)4072653-8 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Humangenetik Erbkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=022546362&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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