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Human chromosome atlas : introduction to diagnostics of structural aberrations / Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour, Gesa Schwanitz.

Contributor(s): Behrend, Claudia,, autor | Hagh, Javad Karimzad,, autor | Mehdipour, Parvin,, autor | Schwanitz, Gesa,, autor
Material type: materialTypeLabelE-bookPublisher: Cham, Switzerland : Springer, [2017]Description: 1 recurso en línea (viii, 207 páginas) : ilustraciones.ISBN: 331954098X; 3319540998; 9783319540986; 9783319540993.Subject: CromosomasOnline resources: Acceso a este recurso digital (usuarios Universidad Europea de Madrid)Digital Resources
Contents:
Introduction -- Structural chromosome aberrations -- Mutations in non-coding-DNA regions -- Single case presentations -- Mutations in non-coding-DNA regions -- Outlook -- Bibliography.
Abstract: This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
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Holdings
Item type Current library Collection Call number Status Date due Barcode Item holds
LIBRO-E NO PRÉSTAMO LIBRO-E NO PRÉSTAMO Madrid Digital Acceso Electrónico (UEM) Ciencias e Ingeniería QH431 2017 EB (Browse shelf(Opens below)) Acceso electrónico eBook.20023922
Total holds: 0

SpringerLink Springer Biomedical and Life Sciences eBooks 2017 English+International

Incluye referencias bibliográficas

Introduction -- Structural chromosome aberrations -- Mutations in non-coding-DNA regions -- Single case presentations -- Mutations in non-coding-DNA regions -- Outlook -- Bibliography.

This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.

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