Chromosome Abnormalities and Genetic Counseling

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Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)

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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.

Chromosome Number 16

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (73 download)

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Book Synopsis Chromosome Number 16 by : Human Genome Project

Download or read book Chromosome Number 16 written by Human Genome Project and published by . This book was released on 2004 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Autism Spectrum Disorders

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Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318026026
Total Pages : 178 pages
Book Rating : 4.3/5 (18 download)

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Book Synopsis Autism Spectrum Disorders by : M. Créteil

Download or read book Autism Spectrum Disorders written by M. Créteil and published by Karger Medical and Scientific Publishers. This book was released on 2015-02-11 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accurate and exhaustive, this book provides a wide overview of the current knowledge on phenotypes, mechanisms and treatment of autism spectrum disorders. It covers topics on diagnostic issues, comorbid conditions and therapeutic strategies along with a detailed discussion on the actual understanding of the pathophysiology of autism disorders. More specifically, this book reviews in detail the current knowledge on the comorbidity between mental and medical disorders, describes abnormal cognitive and social development and gives a thorough overview on genetic as well as brain imaging abnormalities observed in autism spectrum disorders. In addition, the current literature on environmental risk factors which may provide an explanation for the increased prevalence of autism is being described. The last chapter gives an extensive review of early detection and early therapeutic interventions encompassing psycho-social and pharmacological strategies. Each chapter is easy to read and gives the reader access to the most important information on each topic covered. This book provides innovative reading material for medical students, psychologists, researchers and clinicians who need accurate information on the best available diagnostic and therapeutic strategies as well as on up-to-date research data.

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

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Author :
Publisher : Mosby
ISBN 13 : 9780323019316
Total Pages : 0 pages
Book Rating : 4.0/5 (193 download)

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Book Synopsis Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by : Ralph S. Lachman

Download or read book Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias written by Ralph S. Lachman and published by Mosby. This book was released on 2007 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.

ISCN 2013

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Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318022535
Total Pages : 148 pages
Book Rating : 4.3/5 (18 download)

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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.

Genomic Disorders

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Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

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Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Cell Biology by the Numbers

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Publisher : Garland Science
ISBN 13 : 1317230698
Total Pages : 400 pages
Book Rating : 4.3/5 (172 download)

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Book Synopsis Cell Biology by the Numbers by : Ron Milo

Download or read book Cell Biology by the Numbers written by Ron Milo and published by Garland Science. This book was released on 2015-12-07 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Top 25 CHOICE 2016 Title, and recipient of the CHOICE Outstanding Academic Title (OAT) Award. How much energy is released in ATP hydrolysis? How many mRNAs are in a cell? How genetically similar are two random people? What is faster, transcription or translation?Cell Biology by the Numbers explores these questions and dozens of others provid

Bone Marrow Pathology

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Publisher : John Wiley & Sons
ISBN 13 : 0470756896
Total Pages : 513 pages
Book Rating : 4.4/5 (77 download)

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Book Synopsis Bone Marrow Pathology by : Barbara J. Bain

Download or read book Bone Marrow Pathology written by Barbara J. Bain and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 513 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by one of the world's leading haematologists, and three renowned histopathologists, Bone Marrow Pathology provides a comprehensive guide to the diagnosis of bone marrow disease. Now in its Third Edition, the text has been extensively revised and rewritten to reflect the latest advances in the field. Features: An extremely practical, up-to-the-minute text incorporating the new WHO classification of haematopoietic malignancies A comprehensive text written with great precision and clarity of style Incorporates a new section 'Problems and Pitfalls' - a unique section that will aid the working pathologist faced with a difficult situation An important text for the haematologist, histopathologist and haematopathologist with equal weight given to peripheral blood, aspirate, trephine biology and specialized techniques Extensively illustrated with many of the photographs being of paraffin-embedded sections Combines all the techniques now applied to bone marrow diagnosis, including immunocytochemistry, flow cytometery, immunohistochemistry and the diagnostic role of cytogenetic and molecular genetic analysis

Molecular Biology of the Cell

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Publisher :
ISBN 13 : 9780815332183
Total Pages : 0 pages
Book Rating : 4.3/5 (321 download)

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Book Synopsis Molecular Biology of the Cell by :

Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cardiovascular Therapeutics E-Book

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Publisher : Elsevier Health Sciences
ISBN 13 : 1455737372
Total Pages : 833 pages
Book Rating : 4.4/5 (557 download)

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Book Synopsis Cardiovascular Therapeutics E-Book by : Elliott M. Antman

Download or read book Cardiovascular Therapeutics E-Book written by Elliott M. Antman and published by Elsevier Health Sciences. This book was released on 2012-09-17 with total page 833 pages. Available in PDF, EPUB and Kindle. Book excerpt: Manage cardiovascular problems more effectively with the most comprehensive resource available! A trusted companion to Braunwald's Heart Disease, Cardiovascular Therapeutics, 4th Edition addresses pharmacological, interventional, and surgical management approaches for each type of cardiovascular disease. This practical and clinically focused cardiology reference offers a balanced, complete approach to all of the usual and unusual areas of cardiovascular disease and specific therapies in one concise volume, equipping you to make the best choices for every patient. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Understand current approaches to treating and managing cardiovascular patients for long-term health, for complex problems, and for unusual cardiac events. Benefit from the substantial experience of Elliott M. Antman, MD, Marc S. Sabatine, MD, and a host of other respected authorities, who provide practical, evidence-based rationales for all of today's clinical therapies. Expand your knowledge beyond pharmacologic interventions with complete coverage of the most effective interventional and device therapies being used today. Easily reference Braunwald's Heart Disease, 9th Edition for further information on topics of interest. Make the best use of the latest genetic and molecular therapies as well as advanced therapies for heart failure. Cut right to the answers you need with an enhanced focus on clinically relevant information and a decreased emphasis on pathophysiology. Stay current with ACC/AHA/ESC guidelines and the best ways to implement them in clinical practice. Get an enhanced visual perspective with an all-new, full-color design throughout.

Chromosome identification: Medicine and Natural Sciences

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Publisher : Elsevier
ISBN 13 : 0323162673
Total Pages : 357 pages
Book Rating : 4.3/5 (231 download)

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Book Synopsis Chromosome identification: Medicine and Natural Sciences by : Torbjoern Caspersson

Download or read book Chromosome identification: Medicine and Natural Sciences written by Torbjoern Caspersson and published by Elsevier. This book was released on 1973-01-01 with total page 357 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine.

Deciphering Human Chromosome 16

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Publisher : Information as Material
ISBN 13 : 9780955309229
Total Pages : 517 pages
Book Rating : 4.3/5 (92 download)

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Book Synopsis Deciphering Human Chromosome 16 by : Sarah Jacobs

Download or read book Deciphering Human Chromosome 16 written by Sarah Jacobs and published by Information as Material. This book was released on 2007-01 with total page 517 pages. Available in PDF, EPUB and Kindle. Book excerpt: This index sets fragments collected from websites in the month following the publication in the journal 'Nature of - the Sequence and Analysis of Duplication-Rich Human Chromosome 16' against the background of the earlier draft sequence originally published by Project Gutenberg.

Concepts of Biology

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Publisher :
ISBN 13 : 9781680921021
Total Pages : 624 pages
Book Rating : 4.9/5 (21 download)

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Book Synopsis Concepts of Biology by : Samantha Fowler

Download or read book Concepts of Biology written by Samantha Fowler and published by . This book was released on 2017-12-30 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: Concepts of Biology is designed for the introductory biology course for nonmajors taught at most two- and four-year colleges. The scope, sequence, and level of the program are designed to match typical course syllabi in the market. Concepts of Biology includes interesting applications, features a rich art program, and conveys the major themes of biology. The images in this textbook are grayscale.

MRCOG Part One

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Publisher : Cambridge University Press
ISBN 13 : 1107667135
Total Pages : 557 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis MRCOG Part One by : Alison Fiander

Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.

Health Risks from Exposure to Low Levels of Ionizing Radiation

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Publisher : National Academies Press
ISBN 13 : 0309133343
Total Pages : 422 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Health Risks from Exposure to Low Levels of Ionizing Radiation by : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation

Download or read book Health Risks from Exposure to Low Levels of Ionizing Radiation written by Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation and published by National Academies Press. This book was released on 2006-03-23 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.

Chromosomes

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Publisher : John Wiley & Sons
ISBN 13 : 0470695226
Total Pages : 304 pages
Book Rating : 4.4/5 (76 download)

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Book Synopsis Chromosomes by : Adrian T. Sumner

Download or read book Chromosomes written by Adrian T. Sumner and published by John Wiley & Sons. This book was released on 2008-04-30 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: Integrating classical knowledge of chromosome organisation with recent molecular and functional findings, this book presents an up-to-date view of chromosome organisation and function for advanced undergraduate students studying genetics. The organisation and behaviour of chromosomes is central to genetics and the equal segregation of genes and chromosomes into daughter cells at cell division is vital. This text aims to provide a clear and straightforward explanation of these complex processes. Following a brief historical introduction, the text covers the topics of cell cycle dynamics and DNA replication; mitosis and meiosis; the organisation of DNA into chromatin; the arrangement of chromosomes in interphase; euchromatin and heterochromatin; nucleolus organisers; centromeres and telomeres; lampbrush and polytene chromosomes; chromosomes and evolution; chromosomes and disease, and artificial chromosomes. Topics are illustrated with examples from a wide variety of organisms, including fungi, plants, invertebrates and vertebrates. This book will be valuable resource for plant, animal and human geneticists and cell biologists. Originally a zoologist, Adrian Sumner has spent over 25 years studying human and other mammalian chromosomes with the Medical Research Council (UK). One of the pioneers of chromosome banding, he has used electron microscopy and immunofluorescence to study chromosome organisation and function, and latterly has studied factors involved in chromosome separation at mitosis. Adrian is an Associate Editor of the journal Chromosome Research, acts as a consultant biologist and is also Chair of the Committee of the International Chromosome Conferences. The most up-to-date overview of chromosomes in all their forms. Introduces cutting-edge topics such as artificial chromosomes and studies of telomere biology. Describes the methods used to study chromosomes. The perfect complement to Turner.

Cytogenetic Abnormalities

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Publisher : John Wiley & Sons
ISBN 13 : 1118412567
Total Pages : 672 pages
Book Rating : 4.1/5 (184 download)

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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 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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