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Iscn 2020
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Download or read book Iscn 2020 written by Jean McGowan-Jordan and published by . This book was released on 2020-12-31 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book ISCN 2016 written by J. McGowan-Jordan and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book ISCN 2020 written by Jean McGowan-Jordan and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :Lisa G. Shaffer Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805580193 Total Pages :137 pages Book Rating :4.8/5 (55 download)
Download or read book ISCN 2005 written by Lisa G. Shaffer and published by Karger Medical and Scientific Publishers. This book was released on 2005-01-01 with total page 137 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 :International Standing Committee on Human Cytogenetic Nomenclature Publisher :Karger Medical and Scientific Publishers ISBN 13 :3318022535 Total Pages :148 pages Book Rating :4.3/5 (18 download)
Book Synopsis ISCN 2013 by : International Standing Committee on Human Cytogenetic Nomenclature
Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis The Principles of Clinical Cytogenetics by : Steven Gersen
Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis The AGT Cytogenetics Laboratory Manual by : Marilyn S. Arsham
Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field
Book Synopsis Cytogenetic Abnormalities by : Susan Mahler Zneimer
Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-08-21 with total page 664 pages. Available in PDF, EPUB and Kindle. Book excerpt: This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports.
Author :International Standing Committee on Human Cytogenetic Nomenclature Publisher :Karger Medical Scientific ISBN 13 : Total Pages :158 pages Book Rating :4.:/5 (318 download)
Book Synopsis ISCN 2009 by : International Standing Committee on Human Cytogenetic Nomenclature
Download or read book ISCN 2009 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical Scientific. This book was released on 2009 with total page 158 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner
Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Nursing Care of Children and Young People with Long-Term Conditions by : Mandy Brimble
Download or read book Nursing Care of Children and Young People with Long-Term Conditions written by Mandy Brimble and published by John Wiley & Sons. This book was released on 2020-12-29 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of Nursing Care of Children and Young People with Long Term Conditions remains the only nursing-specific text on the care of paediatric patients with chronic illness. Written to meet the needs of nursing students and professionals alike, this comprehensive volume provides authoritative and up-to-date information on the context, theory, and practice of delivering holistic care to children and families in a range of health and social care settings. Contributions from a team of experienced academics, educators, and practitioners offer valuable insight into the impact of chronic illness on children and parents, the practical implications of meeting their physical, psychological, and social needs, empowering them to be 'experts' in their care, and many more vital aspects of long-term paediatric care. This edition features new and revised content reflecting contemporary guidelines and evidence-based practice, including updated clinical case studies and a new chapter examining the impact of having a sibling with a long-term condition. Emphasising a multi-disciplinary approach to managing chronic illness, this important resource: Provides numerous case studies and activities illustrating the application of theoretical principles and current evidence in nursing practice Investigates the genetic basis of chronic illness and the differing onsets of long-term conditions Discusses current political, economic, and social policies that are influencing healthcare for children and bringing challenges to managers and practitioners Examines both classic and contemporary theories of grief, loss, coping, and adaptation Explores ethical, legal, and professional aspects of nursing children and young people with chronic illness Addresses evolving nursing roles, the importance of acute emergency care, and the planning and delivery of effective transition from child to adult services Nursing Care of Children and Young People with Long Term Conditions is required reading for student and registered children's nurses, as well as for practitioners in related health and social care disciplines.
Book Synopsis Clinical Precision Medicine by : Judy S. Crabtree
Download or read book Clinical Precision Medicine written by Judy S. Crabtree and published by Academic Press. This book was released on 2019-11-15 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Sustainability in Higher Education by : J. Paulo Davim
Download or read book Sustainability in Higher Education written by J. Paulo Davim and published by Chandos Publishing. This book was released on 2015-08-24 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Support in higher education is an emerging area of great interest to professors, researchers and students in academic institutions. Sustainability in Higher Education provides discussions on the exchange of information between different aspects of sustainability in higher education. This book includes chapter contributions from authors who have provided case studies on various areas of education for sustainability. focus on sustainability present studies in aspects related with higher education explores a variety of educational aspects from an sustainable perspective
Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui
Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Book Synopsis Principles of Data Conversion System Design by : Behzad Razavi
Download or read book Principles of Data Conversion System Design written by Behzad Razavi and published by Wiley-IEEE Press. This book was released on 1995 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This advanced text and reference covers the design and implementation of integrated circuits for analog-to-digital and digital-to-analog conversion. It begins with basic concepts and systematically leads the reader to advanced topics, describing design issues and techniques at both circuit and system level. Gain a system-level perspective of data conversion units and their trade-offs with this state-of-the art book. Topics covered include: sampling circuits and architectures, D/A and A/D architectures; comparator and op amp design; calibration techniques; testing and characterization; and more!
