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Author: Jean McGowan-Jordan
Publisher:
Published: 2020-12-31
Total Pages: 164
ISBN-13: 9783318067064
DOWNLOAD EBOOK →This reprint of 'Cytogenetic and Genome Research' contains contributions discussing the subject in-depth. 'Cytogenetic and Genome Research' is a well-respected, international peer-reviewed journal in genetics.
Author: Jean McGowan-Jordan
Publisher:
Published: 2020
Total Pages:
ISBN-13: 9783318067040
DOWNLOAD EBOOK →Author: International Standing Committee on Human Cytogenetic Nomenclature
Publisher: Karger Medical and Scientific Publishers
Published: 2013
Total Pages: 148
ISBN-13: 3318022535
DOWNLOAD EBOOK →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.
Author: Lisa G. Shaffer
Publisher: Karger Medical and Scientific Publishers
Published: 2005-01-01
Total Pages: 137
ISBN-13: 3805580193
DOWNLOAD EBOOK →This publication combines and extends the now classic system of human cytogenetic nomenclature prepared by expert committees and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics ) since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, BC, in December 2004, it updates, corrects and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication. It thus supersedes the previous compilations in ISCN 1985 and its supplement, ISCN 1991 , the Guidelines for Cancer Cytogenetics , and ISCN 1995 . What s new in ISCN 2005? the G- and R-banded karyotypes have been replaced by new ones reflecting higher band-level resolutions new ideograms at the 300-band and 700-band level have been added the in situ hybridization nomenclature has been modernized, simplified, and expanded new examples reflecting unique situations are included a basic nomenclature for recording array comparative genomic hybridization results is introduced ISCN 2005 also contains a detachable fold-out of the normal human karyotype, consisting of photographs of G-banded and R-banded chromosomes at the commonly examined 550-band resolution stage and their diagrammatic representations a useful aid for human cytogeneticists, technicians, and students.
Author: Steven Gersen
Publisher: Humana Press
Published: 2010-10-12
Total Pages: 0
ISBN-13: 9781617370700
DOWNLOAD EBOOK →This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
Author: International Standing Committee on Human Cytogenetic Nomenclature
Publisher: Karger Medical Scientific
Published: 2009
Total Pages: 158
ISBN-13:
DOWNLOAD EBOOK →This publication updates the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics) since 1963.Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, B.C., in October 2008, the ISCN 2009 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations.What is new in ISCN 2009? - New idiograms at all band levels have been revised based upon higher-resolution analysis of banded chromosomes- The neoplasia nomenclature has been revised to allow the use of idem or stemline/sideline notation to describe clonal evolution- New examples reflecting unique situations are included in most chapters- The nomenclature for microarray results has been revised to accommodate any platform and provides detailed and short systems of description- A nomenclature for MLPA results has been introduced ISCN 2009 is thus an indispensable reference for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.
Author: Murat Yilmaz
Publisher: Springer Nature
Published: 2020-08-10
Total Pages: 851
ISBN-13: 303056441X
DOWNLOAD EBOOK →This volume constitutes the refereed proceedings of the 27th European Conference on Systems, Software and Services Process Improvement, EuroSPI conference, held in Düsseldorf, Germany, in September 2020*. The 50 full papers and 13 short papers presented were carefully reviewed and selected from 100 submissions. They are organized in topical sections on visionary papers, SPI manifesto and improvement strategies, SPI and emerging software and systems engineering paradigms, SPI and standards and safety and security norms, SPI and team performance & agile & innovation, SPI and agile, emerging software engineering paradigms, digitalisation of industry, infrastructure and e-mobility, good and bad practices in improvement, functional safety and cybersecurity, experiences with agile and lean, standards and assessment models, recent innovations, virtual reality. *The conference was partially held virtually due to the COVID-19 pandemic.
Author: Marilyn S. Arsham
Publisher: John Wiley & Sons
Published: 2017-04-24
Total Pages: 1216
ISBN-13: 1119061229
DOWNLOAD EBOOK →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.
Author: J. McGowan-Jordan
Publisher:
Published: 2016
Total Pages: 0
ISBN-13: 9783318058871
DOWNLOAD EBOOK →The 2016 edition of the International System for Human Cytogenomic Nomenclature (ISCN 2016) offers standard nomenclature that is used to describe any genomic rearrangement identified by techniques ranging from karyotyping to FISH, microarray, various region specific assays, and DNA sequencing. Suggestions from the international cytogenetics community have been reviewed by the Standing Committee, an international group of experts, nominated by their peers. This updated edition offers: - many new examples, particularly for microarray and region specific assays - trackable changes in the main text compared to the previous edition for easier identification - a nomenclature standard to facilitate the description of chromosome rearrangements characterized by DNA sequencing developed through collaboration between the Human Genome Variation Society (HGVS) and ISCN to accommodate the increased use of sequencing technologies in the characterization of chromosomal abnormalities The ISCN 2016 is an indispensable reference volume for human cytogeneticists, molecular geneticists, technicians, and students for the interpretation and communication of human cytogenetic and molecular cytogenomic nomenclature. After a long collaboration with Cytogenetic and Genome Research, ISCN is now again a part of this leading journal on chromosome and genome research, combining the day-to-day business with the latest findings.
Author: Susan Mahler Zneimer
Publisher: John Wiley & Sons
Published: 2014-08-21
Total Pages: 672
ISBN-13: 1118412567
DOWNLOAD EBOOK →Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases
