The consequences of chromosome imbalance: principles, mechanisms, and models
This book considers in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy. Charles J. Epstein concerns himself with how and why a particular chromosome imbala...
Saved in:
| Main Author: | |
|---|---|
| Format: | Electronic eBook |
| Language: | English |
| Published: |
Cambridge
Cambridge University Press
1986
|
| Series: | Developmental and cell biology series
18 |
| Subjects: | |
| Online Access: | DE-12 DE-92 Volltext |
| Summary: | This book considers in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy. Charles J. Epstein concerns himself with how and why a particular chromosome imbalance produces a specific phenotype. His fundamental goal is to connect chromosome aberrations with functional abnormalities in terms of gene expression, developmental and cell biology, and metabolism. Through his examination of this relationship, we learn more about normal development and function. The book begins with an exploration of several human autosomal aneuploid phenotypes, with particular emphasis on the relationship between genotype and phenotype. In the next part, broad theoretical considerations of the mechanisms which generate these phenotypes are examined with reference to studies on man and other organisms such as bacteria and mice. Experimental approaches to study the effects of aneuploidy are presented next with special attention paid to the development of model systems for studying human aneuploidy |
| Item Description: | Title from publisher's bibliographic system (viewed on 05 Oct 2015) |
| Physical Description: | 1 online resource (xxi, 486 pages) |
| ISBN: | 9780511529702 |
| DOI: | 10.1017/CBO9780511529702 |
Staff View
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| id | DE-604.BV043941633 |
| illustrated | Not Illustrated |
| indexdate | 2024-08-14T00:53:56Z |
| institution | BVB |
| isbn | 9780511529702 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-029350603 |
| oclc_num | 849765279 |
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| owner_facet | DE-12 DE-92 |
| physical | 1 online resource (xxi, 486 pages) |
| psigel | ZDB-20-CBO ZDB-20-CBO BSB_PDA_CBO ZDB-20-CBO FHN_PDA_CBO |
| publishDate | 1986 |
| publishDateSearch | 1986 |
| publishDateSort | 1986 |
| publisher | Cambridge University Press |
| record_format | marc |
| series2 | Developmental and cell biology series |
| spelling | Epstein, Charles J. Verfasser aut The consequences of chromosome imbalance principles, mechanisms, and models Charles J. Epstein Cambridge Cambridge University Press 1986 1 online resource (xxi, 486 pages) txt rdacontent c rdamedia cr rdacarrier Developmental and cell biology series 18 Title from publisher's bibliographic system (viewed on 05 Oct 2015) This book considers in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy. Charles J. Epstein concerns himself with how and why a particular chromosome imbalance produces a specific phenotype. His fundamental goal is to connect chromosome aberrations with functional abnormalities in terms of gene expression, developmental and cell biology, and metabolism. Through his examination of this relationship, we learn more about normal development and function. The book begins with an exploration of several human autosomal aneuploid phenotypes, with particular emphasis on the relationship between genotype and phenotype. In the next part, broad theoretical considerations of the mechanisms which generate these phenotypes are examined with reference to studies on man and other organisms such as bacteria and mice. Experimental approaches to study the effects of aneuploidy are presented next with special attention paid to the development of model systems for studying human aneuploidy Aneuploidy Human chromosome abnormalities Down syndrome / Genetic aspects Aneuploidie (DE-588)4112524-1 gnd rswk-swf Krankheit (DE-588)4032844-2 gnd rswk-swf Chromosomenaberration (DE-588)4010163-0 gnd rswk-swf Aneuploidie (DE-588)4112524-1 s Krankheit (DE-588)4032844-2 s 1\p DE-604 Chromosomenaberration (DE-588)4010163-0 s 2\p DE-604 Erscheint auch als Druckausgabe 978-0-521-03809-6 Erscheint auch als Druckausgabe 978-0-521-25464-9 https://doi.org/10.1017/CBO9780511529702 Verlag URL des Erstveröffentlichers Volltext 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 2\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Epstein, Charles J. The consequences of chromosome imbalance principles, mechanisms, and models Aneuploidy Human chromosome abnormalities Down syndrome / Genetic aspects Aneuploidie (DE-588)4112524-1 gnd Krankheit (DE-588)4032844-2 gnd Chromosomenaberration (DE-588)4010163-0 gnd |
| subject_GND | (DE-588)4112524-1 (DE-588)4032844-2 (DE-588)4010163-0 |
| title | The consequences of chromosome imbalance principles, mechanisms, and models |
| title_auth | The consequences of chromosome imbalance principles, mechanisms, and models |
| title_exact_search | The consequences of chromosome imbalance principles, mechanisms, and models |
| title_full | The consequences of chromosome imbalance principles, mechanisms, and models Charles J. Epstein |
| title_fullStr | The consequences of chromosome imbalance principles, mechanisms, and models Charles J. Epstein |
| title_full_unstemmed | The consequences of chromosome imbalance principles, mechanisms, and models Charles J. Epstein |
| title_short | The consequences of chromosome imbalance |
| title_sort | the consequences of chromosome imbalance principles mechanisms and models |
| title_sub | principles, mechanisms, and models |
| topic | Aneuploidy Human chromosome abnormalities Down syndrome / Genetic aspects Aneuploidie (DE-588)4112524-1 gnd Krankheit (DE-588)4032844-2 gnd Chromosomenaberration (DE-588)4010163-0 gnd |
| topic_facet | Aneuploidy Human chromosome abnormalities Down syndrome / Genetic aspects Aneuploidie Krankheit Chromosomenaberration |
| url | https://doi.org/10.1017/CBO9780511529702 |
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