Diagnostic Cytogenetics

Diagnostic Cytogenetics

Author: Rolf-Dieter Wegner

Publisher: Springer Science & Business Media

Published: 2013-11-11

Total Pages: 464

ISBN-13: 3642599184

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Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.


Cancer Cytogenetics

Cancer Cytogenetics

Author: Sverre Heim

Publisher: John Wiley & Sons

Published: 2015-06-29

Total Pages: 645

ISBN-13: 1118795512

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The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible


The AGT Cytogenetics Laboratory Manual

The AGT Cytogenetics Laboratory Manual

Author: Marilyn S. Arsham

Publisher: John Wiley & Sons

Published: 2017-04-24

Total Pages: 1216

ISBN-13: 1119061229

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Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.


Clinical Precision Medicine

Clinical Precision Medicine

Author: Judy S. Crabtree

Publisher: Academic Press

Published: 2019-11-15

Total Pages: 114

ISBN-13: 0128204028

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Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. - Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics - Features chapter contributions from leaders in the field - Consolidates fundamental concepts and current practices of precision medicine in one convenient resource


Enzinger and Weiss's Soft Tissue Tumors

Enzinger and Weiss's Soft Tissue Tumors

Author: Sharon W. Weiss

Publisher: Elsevier Health Sciences

Published: 2007-11-29

Total Pages: 2815

ISBN-13: 0323076157

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Here's your ideal reference on the diagnosis of tumors of the skeletal muscles, connective tissue, fat, and related structures. No other textbook matches its scope and depth of coverage in this complex and challenging area of surgical pathology, and no other text contains as much practical information on differential diagnosis. Throughout, microscopic findings are correlated with the latest developments in molecular biology, cytogenetics, and immunohistochemistry to provide you with a comprehensive and integrated approach to evaluation and diagnosis. Almost 2,000 superb illustrations capture the appearance of a complete range of entities and help relate these to their specific classifications. The result is an essential resource for all who diagnose and treat soft tissue tumors. Get all the assistance you need, in one reference, to effectively diagnose these often complex and challenging entities. Confirm your diagnostic suspicions by comparing your findings to nearly 2,000 full-color, high-quality illustrations representing the complete range of soft tissue tumors. Access all of the essential clinical and prognostic data necessary to formulate complete sign-out reports. Make optimal use of relevant ancillary techniques such as immunohistochemistry and cytogenetics. Make rapid and effective decisions with the aid of extensive algorithms, and access information at a glance with abundant tables and graphs. Solve difficult diagnostic dilemmas and avoid pitfalls with a special emphasis on overcoming these challenges. Find answers quickly thanks to a new color-coded page design as well as a consistent approach to every entity. Download all of the illustrations from the book for use in electronic presentations with the new bonus CD-ROM. Apply the latest knowledge on FNA biopsy, molecular biology, and cytogenetics. Understand complex molecular events more fully thanks to new conceptual line drawings. Easily distinguish between entities that have a similar appearance with the assistance of new tables that correlate histologic, immunohistochemical, and molecular biologic findings. Navigate through the book quickly thanks to new summary outlines at the beginning of each chapter.


Medical Cytogenetics

Medical Cytogenetics

Author: Hon Fong L. Mark

Publisher: CRC Press

Published: 2000-04-11

Total Pages: 703

ISBN-13: 1482292998

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The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists prepar


Cancer Cytogenetics

Cancer Cytogenetics

Author: Sverre Heim

Publisher: John Wiley & Sons

Published: 2011-09-20

Total Pages: 799

ISBN-13: 1118210581

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Cancer Cytogenetics, 3rd Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area and incorporates a vast amount of new data from the latest basic and clinical investigations. Edited by two leading experts, and now involving a new panel of international experts, the book offers an authoritative description of neoplastic processes at the chromosomal level of genomic organization. Researchers in cytogenetics, medical and molecular genetics, cellular and molecular biology, cancer research, clinical oncology, and hematology will find this reference both thorough and authoritative.


Cytogenetics and Molecular Cytogenetics

Cytogenetics and Molecular Cytogenetics

Author: Thomas Liehr

Publisher: CRC Press

Published: 2022-12-07

Total Pages: 422

ISBN-13: 1000800407

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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 clear summaries of fluorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians


Molecular Cytogenetics

Molecular Cytogenetics

Author: Yao-Shan Fan

Publisher: Springer Science & Business Media

Published: 2002-09-13

Total Pages: 434

ISBN-13:

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Yao-Shan Fan and a panel of senior scientists and pioneering researchers describe in step-by-step style the leading FISH techniques and those molecular technologies beyond FISH available for diagnostic services in genetics and oncology. The methods include labeling FISH probes for DNA and RNA targets, fluorescence genotyping, CGH microarray, spectral karyotyping/multicolor FISH, and primed in situ labeling. There are also techniques for multicolor fiber FISH, multi-telomere FISH, prenatal diagnosis using maternal blood, and preimplantation diagnosis. Oncological methods include simultaneous fluorescence immunophenotyping and FISH for leukemia and lymphoma, HER2 amplification in breast cancer, and CAC/PAC for cancer cytogenetics.


ISCN 2013

ISCN 2013

Author: International Standing Committee on Human Cytogenetic Nomenclature

Publisher: Karger Medical and Scientific Publishers

Published: 2013

Total Pages: 148

ISBN-13: 3318022535

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This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.