Human Chromosome Atlas [electronic resource] : Introduction to diagnostics of structural aberrations

Başlık
Human Chromosome Atlas [electronic resource] : Introduction to diagnostics of structural aberrations

ISBN
9783319540993

Yazar
Behrend, Claudia. author.

Fiziksel Açıklamalar
VIII, 207 p. 97 illus. online resource.

Genel Not
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.

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

Özet
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.

Konu Terimleri
Medicine.
 
Human genetics.
 
Cell biology.
 
Biomedicine.

Ek Yazar
Karimzad Hagh, Javad.
 
Mehdipour, Parvin.
 
Schwanitz, Gesa.

Ek Kurum Yazarı
SpringerLink (Online service)

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KütüphaneMateryal TürüDemirbaşYer NumarasıDurumu/İade Tarihi
Elektronik KütüphaneE-Kitap74411-1001RB155 -155.8Springer Natura E-Book