Benign and Pathological Chromosomal Imbalances

Written By Thomas Liehr
Benign and Pathological Chromosomal Imbalances
  • Publsiher : Academic Press
  • Release : 31 August 2013
  • ISBN : 0124046843
  • Pages : 220 pages
  • Rating : 4/5 from 21 reviews
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Read or download book entitled Benign and Pathological Chromosomal Imbalances written by Thomas Liehr which was release on 31 August 2013, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. Book excerpt: 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 Date : 2013-08-31
  • Total pages : 220
  • ISBN : 0124046843
GET BOOK

Summary : 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 ...

Uniparental Disomy UPD in Clinical Genetics

Uniparental Disomy  UPD  in Clinical Genetics
  • Author : Thomas Liehr
  • Publisher : Springer
  • Release Date : 2014-06-26
  • Total pages : 192
  • ISBN : 0124046843
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Summary : 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, ...

Pathology of Bone and Joint Neoplasms

Pathology of Bone and Joint Neoplasms
  • Author : Timothy R. Helliwell
  • Publisher : W B Saunders Company
  • Release Date : 1999
  • Total pages : 411
  • ISBN : 0124046843
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Summary : Comprised of well-renowned international contributors, this problem-focused text aids in the diagnosis of tumors and tumor like diseases of bones and joints. Describes in detail the ways in which differential diagnostic problems can be resolved. Also includes sections describing recent technical and methodological advances which facilitate the greater understanding of ...

Acta Cytologica

Acta Cytologica
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 1985
  • Total pages : 212
  • ISBN : 0124046843
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Summary : Includes abstracts of papers of various symposia....

Archives of Pathology Laboratory Medicine

Archives of Pathology   Laboratory Medicine
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2008
  • Total pages : 212
  • ISBN : 0124046843
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Summary : Download or read online Archives of Pathology Laboratory Medicine written by , published by which was released on 2008. Get Archives of Pathology Laboratory Medicine Books now! Available in PDF, ePub and Kindle....

Anderson s Pathology

Anderson s Pathology
  • Author : William Arnold Douglas Anderson
  • Publisher : Unknown
  • Release Date : 1985
  • Total pages : 1938
  • ISBN : 0124046843
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Summary : Download or read online Anderson s Pathology written by William Arnold Douglas Anderson, published by which was released on 1985. Get Anderson s Pathology Books now! Available in PDF, ePub and Kindle....

Pathology of Incipient Neoplasia

Pathology of Incipient Neoplasia
  • Author : Donald Earl Henson,Jorge Albores-Saavedra
  • Publisher : Oxford University Press, USA
  • Release Date : 2001
  • Total pages : 839
  • ISBN : 0124046843
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Summary : Screening and early detection have improved our ability to detect lesions at increasingly earlier stages of growth. Physicians are seeking a better understanding of these lesions and their early bioloy in order to provide optimal treatment and patient care. Pathology of Incipient Neoplasia brings together all of the information available ...

Haines Taylor Obstetrical and Gynaecological Pathology

Haines   Taylor Obstetrical and Gynaecological Pathology
  • Author : Magnus Haines,Claud Whittaker Taylor
  • Publisher : Unknown
  • Release Date : 2003
  • Total pages : 1626
  • ISBN : 0124046843
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Summary : The fifth edition of this world-famous text provides encyclopedic coverage of both obstetrical and gynaecological pathology. It describes the basic mechanisms of diseases, their pathological and clinical features and their histological and cytological appearance. Each chapter is written by a leading international expert and provides the reader with a complete ...

Pathology of the Urinary Bladder

Pathology of the Urinary Bladder
  • Author : Christopher Foster,Jeffrey Ross
  • Publisher : W B Saunders Company
  • Release Date : 2004
  • Total pages : 328
  • ISBN : 0124046843
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Summary : A comprehensive monograph on the pathology of the urinary bladder together with its associated tissue in both genders. It explores the contemporary understanding of the complex embryological reorganization occurring early in the intrauterine life of the developing human and continuing expansion of molecular diagnostics extending through the full range of ...

Pathology

Pathology
  • Author : Earl Brown
  • Publisher : McGraw-Hill
  • Release Date : 1999
  • Total pages : 467
  • ISBN : 0124046843
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Summary : This text offers a study regime for course work or exam preparation. It contains 500 multiple-choice questions on pathology, which parallel the format and degree of difficulty found in licensing exams. Detailed answers are provided, along with references to literature on the subject....

Meningiomas Biology Pathology and Differential Diagnosis

Meningiomas  Biology  Pathology  and Differential Diagnosis
  • Author : John J. Kepes
  • Publisher : Year Book Medical Pub
  • Release Date : 1982
  • Total pages : 206
  • ISBN : 0124046843
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Summary : Download or read online Meningiomas Biology Pathology and Differential Diagnosis written by John J. Kepes, published by Year Book Medical Pub which was released on 1982. Get Meningiomas Biology Pathology and Differential Diagnosis Books now! Available in PDF, ePub and Kindle....

The Principles of Pathology

The Principles of Pathology
  • Author : Alan John Morris Reese
  • Publisher : Unknown
  • Release Date : 1974
  • Total pages : 188
  • ISBN : 0124046843
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Summary : Download or read online The Principles of Pathology written by Alan John Morris Reese, published by which was released on 1974. Get The Principles of Pathology Books now! Available in PDF, ePub and Kindle....

Pathology of the Gastrointestinal Tract

Pathology of the Gastrointestinal Tract
  • Author : Si-Chun Ming,Harvey Goldman
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 1998
  • Total pages : 988
  • ISBN : 0124046843
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Summary : Download or read online Pathology of the Gastrointestinal Tract written by Si-Chun Ming,Harvey Goldman, published by Lippincott Williams & Wilkins which was released on 1998. Get Pathology of the Gastrointestinal Tract Books now! Available in PDF, ePub and Kindle....

Diagnostic Surgical Pathology of the Head and Neck

Diagnostic Surgical Pathology of the Head and Neck
  • Author : Douglas R. Gnepp
  • Publisher : W B Saunders Company
  • Release Date : 2001
  • Total pages : 888
  • ISBN : 0124046843
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Summary : Here's the all-new comprehensive text on surgical pathology of the head and neck. Extensively illustrated, this text is the most authoritative source to study the problematic areas for the surgical pathologist. Particular emphasis is placed on diagnostic problems and differential diagnosis in addition to coverage of more common diagnostically straightforward ...

Blood and Bone Marrow Pathology

Blood and Bone Marrow Pathology
  • Author : S. N. Wickramasinghe,Jeffrey J. McCullough
  • Publisher : Unknown
  • Release Date : 2003
  • Total pages : 740
  • ISBN : 0124046843
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Summary : This book will be the most complete and authoritative benchside reference text on the pathologic interpretation and diagnosis of blood and bone marrow disease. The book will cover all of the pathologic conditions that are likely to be encountered in daily practice. The text incorporate the latest knowledge on the ...