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Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publsiher : Academic Press
  • Release : 31 August 2013
  • ISBN : 0124046843
  • Pages : 220 pages
  • Rating : 4/5 from 21 ratings
GET THIS BOOKBenign and Pathological Chromosomal Imbalances

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 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 BOOKBenign 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

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Understanding Genetics

Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher : Lulu.com
  • Release : 19 August 2022
GET THIS BOOKUnderstanding Genetics

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care,

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Human Interphase Chromosomes

Human Interphase Chromosomes
  • Author : Ivan Iourov,Svetlana Vorsanova,Yuri Yurov
  • Publisher : Springer Nature
  • Release : 29 January 2021
GET THIS BOOKHuman Interphase Chromosomes

This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase

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Evolution, Composition and Regulation of Supernumerary B Chromosomes

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

Chromosome Abnormalities and Genetic Counseling
  • Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
  • Publisher : OUP USA
  • Release : 11 November 2011
GET THIS BOOKChromosome Abnormalities and Genetic Counseling

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

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Uniparental Disomy (UPD) in Clinical Genetics

Uniparental Disomy (UPD) in Clinical Genetics
  • Author : Thomas Liehr
  • Publisher : Springer
  • Release : 26 June 2014
GET THIS BOOKUniparental 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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Cytogenomics

Cytogenomics
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release : 25 May 2021
GET THIS BOOKCytogenomics

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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Chromosomal Abnormalities

Chromosomal Abnormalities
  • Author : Marcelo Larramendy,Sonia Soloneski
  • Publisher : BoD – Books on Demand
  • Release : 30 August 2017
GET THIS BOOKChromosomal Abnormalities

This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.

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Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
  • Author : R.J. McKinlay Gardner,David Amor
  • Publisher : Oxford University Press
  • Release : 06 February 2018
GET THIS BOOKGardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a

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Chromosome 12 Aberrations in Human Solid Tumors

Chromosome 12 Aberrations in Human Solid Tumors
  • Author : Jörn Bullerdiek,Sabine Bartnitzke
  • Publisher : Springer Science & Business Media
  • Release : 17 April 2013
GET THIS BOOKChromosome 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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Clinical Pathology Board Review E-Book

Clinical Pathology Board Review E-Book
  • Author : Steven L. Spitalnik,Suzanne Arinsburg,Jeffrey Jhang
  • Publisher : Elsevier Health Sciences
  • Release : 22 September 2014
GET THIS BOOKClinical Pathology Board Review E-Book

Clinical Pathology Board Review covers all of the major subject areas of clinical pathology, presenting you with an essential study guide for certification or recertification. Designed as a companion to Anatomic Pathology Board Review, 2nd Edition, this brand-new medical reference book will be a welcome resource for pathology residents and practicing pathologists alike. Understand all of the major subject areas of clinical pathology tested on the Clinical Pathology board exam, including chemistry, hematology, coagulation, microbiology, immunology (including HLA testing), transfusion

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Cutaneous Adnexal Neoplasms

Cutaneous Adnexal Neoplasms
  • Author : Luis Requena,Omar Sangüeza
  • Publisher : Springer
  • Release : 28 December 2017
GET THIS BOOKCutaneous Adnexal Neoplasms

This superbly illustrated book is the most comprehensive available guide to adnexal neoplasms of the skin. More than 70 entities are described in individual chapters that follow a uniform structure: historical review, clinical features, histopathology, histogenesis, immunohistochemistry, molecular anomalies, and treatment. Readers will find state of the art knowledge on all aspects, including the cytogenetic and chromosomal abnormalities associated with each neoplasm. Without exception, the illustrations are high-quality, full-color, original digital pictures. The histopathology images are taken from perfectly cut and

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The Genetics of Cancer

The Genetics of Cancer
  • Author : B.A. Ponder,M.J. Waring
  • Publisher : Springer Science & Business Media
  • Release : 06 December 2012
GET THIS BOOKThe Genetics of Cancer

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development.

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Modern Soft Tissue Pathology

Modern Soft Tissue Pathology
  • Author : Markku Miettinen
  • Publisher : Cambridge University Press
  • Release : 14 June 2010
GET THIS BOOKModern Soft Tissue Pathology

This book comprehensively covers modern soft tissue pathology and includes both tumors and non-neoplastic entities. Soft tissues make up a large bulk of the human body, and they are susceptible to a wide range of diseases. Many soft-tissue tumors are biologically very aggressive, and the chance of them metastasizing to vital organs is quite high. In recent years, the outlook for soft-tissue cancers has brightened dramatically due to the increased accuracy of the pathologist's tools. All methods of diagnosis are

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