Benign and Pathological Chromosomal Imbalances

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  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Pages : 220 pages
  • ISBN : 0124046843
  • Rating : /5 from reviews
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Download or Read online Benign and Pathological Chromosomal Imbalances full in PDF, ePub and kindle. this book written by Thomas Liehr and published by Academic Press which was released on 31 August 2013 with total page 220 pages. We cannot guarantee that Benign and Pathological Chromosomal Imbalances book is available in the library, click Get Book button and read full online book in your kindle, tablet, IPAD, PC or mobile whenever and wherever You Like. Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release : 31 August 2013
GET THIS BOOK Benign and Pathological Chromosomal Imbalances

Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of

Evolution Composition and Regulation of Supernumerary B Chromosomes

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  • Author : Andreas Houben,Neil Jones,Cesar Martins,Vladimir Trifonov
  • Publisher : MDPI
  • Release : 25 April 2019
GET THIS BOOK Evolution Composition and Regulation of Supernumerary B Chromosomes

Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi. Since their discovery more than a century ago, they have been a source of puzzlement, as they only occur in some members of a population and are absent from others. When they do occur, they are often harmful, and in the absence of “selfishness”, based on mechanisms of mitotic and meiotic drive, there appears to be no obvious reason for

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  • Publisher : Springer
  • Release : 26 June 2014
GET THIS BOOK Uniparental Disomy UPD in Clinical Genetics

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from

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  • Publisher : Academic Press
  • Release : 07 June 2021
GET THIS BOOK Cytogenomics

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing,

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  • Publisher : Springer
  • Release : 18 July 2019
GET THIS BOOK Practical Breast Pathology

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GET THIS BOOK Breast Pathology

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  • Publisher : Springer Science & Business Media
  • Release : 17 April 2013
GET THIS BOOK Chromosome 12 Aberrations in Human Solid Tumors

Researchers involved in the cytogenetics and molecular genetics of human tumors will welcome this comprehensive overview of the type of aberrations that chromosome 12 presents in human solid tumors. The authors study the implications for a cytogenetic subtyping of the tumors involved and strategies for identifying the molecular changes which underlie the karyotypic alterations. The aberrations of chromosome 12 which the book deals with are very frequent chromosomal alterations in human tumors occuring in frequent benign mesenchymal tumors, such as uterine leiomyomas

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  • Author : International Agency for Research on Cancer,World Health Organization,International Academy of Pathology
  • Publisher : IARC
  • Release : 18 October 2021
GET THIS BOOK Pathology and Genetics of Tumours of Endocrine Organs

This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003

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  • Publisher : Elsevier Health Sciences
  • Release : 08 August 2019
GET THIS BOOK Diagnostic Pathology Molecular Oncology E Book

Covering all aspects of molecular pathology as it relates to the transformation and pathogenesis of cancer, this award-winning volume in the Diagnostic Pathology series is an expert resource for pathologists at all levels of experience and training, both as a quick reference and as an efficient review to improve knowledge and skills. This easily accessible, point-of-care reference features templated, bulleted content that is generously illustrated with charts, graphs, tables, and color photomicrographs of histology with special stains. It offers a

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  • Publisher : Elsevier Health Sciences
  • Release : 01 August 2011
GET THIS BOOK Breast Pathology E Book

Breast Pathology, a title in the Foundations in Diagnostic Pathology series, provides all of the most essential information on the pathological entities encountered in practice in an easy-to-use format. Drs. Frances P. O'Malley, Sarah E. Pinder, and Anna Marie Mulligan provide unparalleled expert guidance for the study and diagnosis of a broad spectrum of breast lesions as well as the broad range of appearances of normal breast tissue. The consistent, practical format with a wealth of illustrations, at-a-glance boxes, and

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  • Author : Bruce M. Wenig
  • Publisher : Elsevier Health Sciences
  • Release : 11 August 2015
GET THIS BOOK Atlas of Head and Neck Pathology

Atlas of Head and Neck Pathology delivers authoritative, highly visual guidancefor effectively and accurately diagnosing a wide range of head and neck problems. This comprehensive resource features extensive,high-quality images depicting the histologic, immunohistochemical, cytologic, and diagnostic imaging appearance of every type of head and neck pathology. With a consistent,practical organization and succinct, bulleted format, the Atlas continues to be the resource general pathologists and specialists count on for reliable,easy-to-find answers. Reach accurate diagnostic conclusions easily with a

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  • Publisher : Cambridge University Press
  • Release : 01 March 2016
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  • Publisher : Springer Science & Business Media
  • Release : 20 December 2013
GET THIS BOOK Benign Breast Diseases

The second edition of this book has been extensively revised and updated. There has been a lot of scientific advances in the radiology, pathology and risk assessment of benign breast lesions since the publication of the first edition. The first edition concentrated on screen-detected lesions, which has been rectified. New symptomatic and screen-detected lesions are discussed in the second edition and include: mastitis and breast abscess, idiopathic granulomatous mastitis, diabetic mastopathy, phyllodes tumour, gynaecomastia and pseudoangiomatous stromal hyperplasia. The chapters

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  • Release : 18 October 2019
GET THIS BOOK Enzinger and Weiss s Soft Tissue Tumors E Book

Since its first publication more than 35 years ago, Enzinger and Weiss’s Soft Tissue Tumors has established itself as the most comprehensive and authoritative reference available on soft tissue pathology. The 7th Edition from Drs. John R. Goldblum, Andrew L. Folpe, and Sharon W. Weiss, continues this tradition with detailed, well-written, logically organized coverage of the full spectrum of these often difficult and challenging tumors. It offers clear guidance to practicing and trainee pathologists on diagnosis of tumors by microscopy,