Benign and Pathological Chromosomal Imbalances

Book Benign and Pathological Chromosomal Imbalances Cover

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  • Publisher : Academic Press
  • Release : 31 August 2013
  • ISBN : 9780124046849
  • Page : 220 pages
  • Rating : 4.5/5 from 103 voters

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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

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Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2013-08-31
  • ISBN : 9780124046849
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

Clinical Pathology Board Review E-Book

Clinical Pathology Board Review E-Book
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  • Publisher : Elsevier Health Sciences
  • Release Date : 2014-09-22
  • ISBN : 9780323186551
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

Rosen's Breast Pathology

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  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2020-10-23
  • ISBN : 9781496398925
GET THIS BOOKRosen's Breast Pathology

Widely recognized as the gold standard reference in the field, Rosen’s Breast Pathology provides comprehensive, up-to-date information on diseases of the breast from renowned experts at four leading medical centers, masterfully edited by Dr. Paul P. Rosen. The revised fifth edition covers the latest advances in immunohistochemical, pathobiological, and molecular aspects of benign and malignant breast diseases, helping you reach an accurate diagnosis with confidence. It’s an ideal reference for all physicians and medical personnel who require a

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  • Author : Ivan Iourov,Svetlana Vorsanova,Yuri Yurov
  • Publisher : Springer Nature
  • Release Date : 2021-01-29
  • ISBN : 9783030625320
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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  • Publisher : MDPI
  • Release Date : 2019-04-25
  • ISBN : 9783038977865
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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  • Publisher : Springer
  • Release Date : 2019-07-18
  • ISBN : 9783030165185
GET THIS BOOKPractical Breast Pathology

This comprehensive volume reviews current topics and controversies in diagnostic breast pathology, and addresses frequently encountered diagnostic problems using a question and answer format and case presentations. Emphasis is placed on the diagnostic approach as it relates to morphology, clinical and radiographic correlation, differential diagnosis, and ancillary testing including immunohistochemical and molecular analyses. Answers are provided and serve as a practical, evidence-based, and problem solving guide to diagnostic issues having significant impacts on clinical management. Common but diagnostically challenging entities

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  • Author : Thomas Liehr
  • Publisher : Springer
  • Release Date : 2014-06-26
  • ISBN : 9783642552885
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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  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2021-05-25
  • ISBN : 9780128235805
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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  • Publisher : CRC Press
  • Release Date : 2022-12-07
  • ISBN : 9781000800401
GET THIS BOOKCytogenetics and Molecular Cytogenetics

Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides

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  • Publisher : Springer
  • Release Date : 2016-11-24
  • ISBN : 9783319286556
GET THIS BOOKBreast Pathology

​This book covers practical diagnostic issues in breast pathology, with special emphasis on areas which pose diagnostic difficulties. These include dealing with the gross specimens derived from patients treated with conservative surgery and those who had neo-adjuvant therapy before surgery. It also discusses how to deal with axillary lymph nodes, proliferative breast lesions, including DCIS, and problematic core biopsies, as well as fibro-epithelial, spindle cell, lobular, mucinous, metaplastic and papillary lesions, molecular classification of breast cancers, breast lesions in male

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  • Publisher : Elsevier Health Sciences
  • Release Date : 2019-08-08
  • ISBN : 9780323611459
GET THIS BOOKDiagnostic 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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  • Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
  • Publisher : OUP USA
  • Release Date : 2011-11-11
  • ISBN : 9780195375336
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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  • Release Date : 2011-08-01
  • ISBN : 9781455733392
GET THIS BOOKBreast 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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  • Publisher : IARC
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  • ISBN : 9283224167
GET THIS BOOKPathology and Genetics of Tumours of Endocrine Organs

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  • Publisher : Elsevier Health Sciences
  • Release Date : 2015-08-26
  • ISBN : 9781455733828
GET THIS BOOKAtlas of Head and Neck Pathology

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