ISCN 2013 PDF Download

Author: International Standing Committee on Human Cytogenetic Nomenclature
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318022535
Category : Medical
Languages : en
Pages : 148

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Book Description
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
ISBN: 3805580193
Category : Medical
Languages : en
Pages : 137

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Book Description
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 the G- and R-banded karyotypes have been replaced by new ones reflecting higher band-level resolutions new ideograms at the 300-band and 700-band level have been added the in situ hybridization nomenclature has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: Jean McGowan-Jordan
Publisher:
ISBN: 9783318067064
Category :
Languages : en
Pages : 164

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Book Description
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: Steven L. Gersen
Publisher: Springer
ISBN:
Category : Medical
Languages : en
Pages : 580

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Book Description
Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.

Author: Marilyn S. Arsham
Publisher: John Wiley & Sons
ISBN: 1119061229
Category : Science
Languages : en
Pages : 1216

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Book Description
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: Audrey Wanger
Publisher: Elsevier
ISBN: 0128092386
Category : Medical
Languages : en
Pages : 312

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Book Description
Microbiology and Molecular Diagnosis in Pathology: A Comprehensive Review for Board Preparation, Certification and Clinical Practice reviews all aspects of microbiology and molecular diagnostics essential to successfully passing the American Board of Pathology exam. This review book will also serve as a first resource for residents who want to become familiar with the diagnostic aspects of microbiology and molecular methods, as well as a refresher course for practicing pathologists. Opening chapters discuss issues of laboratory management, including quality control, biosafety, regulations, and proper handling and reporting of laboratory specimens. Review chapters give a quick overview of specific clinical infections as well as different types of bacteria, viruses, fungal infections, and infections caused by parasites. Following these, coverage focuses on diagnostic tools and specific tests: media for clinical microbiology, specific stains and tests for microbial identifications, susceptibility testing and use of antimicrobial agents, tests for detecting antibodies, antigens, and microbial infections. Two final chapters offer overviews on molecular diagnostics principles and methods as well as the application of molecular diagnostics in clinical practice. - Takes a practical and easy-to-read approach to understanding microbiology at an appropriate level for both board preparation as well as a professional refresher course - Covers all important clinical information found in larger textbooks in a more succinct and easy-to-understand manner - Covers essential concepts in microbiology in such a way that residents, fellows, and clinicians understand the methods and tests without having to become specialists in the field - Offers a quick overview of specific clinical infections as well as different types of bacteria, viruses, fungal infections, and infections caused by parasites

Author: Elaine Sarkin Jaffe
Publisher: Elsevier Health Sciences
ISBN: 032338871X
Category : Medical
Languages : en
Pages : 1564

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Book Description
The world's leading reference in hematopathology returns with this completely updated second edition. Authored by international experts in the field, it covers a broad range of hematologic disorders -- both benign and malignant -- with information on the pathogenesis, clinical and pathologic diagnosis, and treatment for each. Comprehensive in scope, it's a must-have resource for both residents and practicing pathologists alike. - Authored by the chief architects of the WHO classification in neoplasms of hematopoietic and lymphoid tissue. - Covers the newest diagnostic techniques, including molecular, immunohistochemical, and genetic studies. - Confirm or challenge your diagnostic interpretations by comparing specimens to over 1,000 high-quality color images. - Boasts detailed, practical advice from world leaders in hematopathology. - Places an emphasis on pathologic diagnoses, including molecular and genetic testing. - Updated with the most current WHO classifications of hematologic disease, including lymphoma and leukemia and peripheral T-cell lymphomas. - Covers hot topics in hematopathology, such as the latest genetic insights into lymphoma and leukemia; the new nomenclature for myelodysplastic syndromes; new developments on the subject of Grey zone lymphoma; and much more. - Expert Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, images, and references from the book on a variety of devices. There's also a downloadable image bank, and Virtual Microscope Slides are featured in several chapters.

Author: Kenneth F. Swaiman
Publisher: Elsevier Health Sciences
ISBN: 0323374816
Category : Medical
Languages : en
Pages : 2955

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Book Description
Since 1975, Dr. Kenneth Swaiman's classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that's new in the field. Five new sections, 62 new chapters, 4 new editors, and a reconfigured format make this a comprehensive and clearly-written resource for the experienced clinician as well as the physician-in-training. - Nearly 3,000 line drawings, photographs, tables, and boxes highlight the text, clarify key concepts, and make it easy to find information quickly.

Author: Aaron Fay
Publisher: Elsevier Health Sciences
ISBN: 0323377246
Category : Medical
Languages : en
Pages : 747

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Book Description
Drawing from the knowledge and expertise of more than 70 contributing international experts, Diseases and Disorders of the Orbit and Ocular Adnexa thoroughly covers the state of the art in orbital and periocular disease from the perspective of a variety of specialties. Clearly written and profusely illustrated, it covers the clinical presentation, pathophysiology, natural history, and management alternatives of disease processes affecting the orbit, eyelids, lacrimal system, and upper face. With a singular focus on the diagnosis and management of orbital and ocular adnexal disease, this authoritative text gives you the information you need to excel both in practice and on exams in the specialty of ophthalmic plastic and reconstructive surgery. - Offers an in-depth and thorough approach to the pathophysiology of oculoplastics and orbital disease, incorporating the perspectives of numerous specialties – all in one convenient volume. - Uses an easy-to-follow, templated format throughout so you can find what you need quickly. - Covers new information not included in other texts, such as antibody testing in dysthyroid conditions and a rapidly emerging array of targeted immunosuppressive medications for the treatment of inflammatory orbital disease. - Includes hot topics such as the classification and management of orbital inflammatory disease; vascular neoplasms and malformations; periocular dermatology; burn management; facial paralytic disease; and the pathogenesis, evaluation and management of lymphoproliferative disease. - Features more than 1,200 high-quality clinical, imaging, and histological illustrations that provide clear visual examples of orbital disease. - Written by an international team of experts from five continents (across multiple specialties including ophthalmology, dermatology, burn management, plastic surgery, otolaryngology, endocrinology, and pathology) led by Dr. Aaron Fay and Dr. Peter J. Dolman.

Author: E Scott Sills
Publisher: Springer
ISBN: 3319168924
Category : Health & Fitness
Languages : en
Pages : 391

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Book Description
Intended for readers with a background in fertility medicine as well as those less familiar with IVF, this comprehensive work presents an update on preimplantation genetic testing to enable single embryo transfer (SET). An international cast of contributors explains the treatment sequence—from ovulation induction to luteal support—aiming to transfer only one euploid embryo. Applications of molecular techniques for gamete and embryo assessment are fully detailed, with a focus on the strengths and limitations of each. In addition, expert commentary is shared across a range of regulatory challenges associated with embryo screening and cryopreservation. As access to advanced reproductive technology increases against a sharper background of healthcare reform, clinicians, economists, bioethicists and legislators alike will find this new volume relevant and highly accessible.