Chromosome Abnormalities and Genetic Counseling PDF Download
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Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650
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Book Description
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.
Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650
Get Book Here
Book Description
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.
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:
Publisher:
ISBN: 9780815332183
Category : Cells
Languages : en
Pages : 0
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Book Description
Author: M. Créteil
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318026026
Category : Medical
Languages : en
Pages : 178
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Book Description
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.
Author: James R. Lupski
Publisher: Springer Science & Business Media
ISBN: 1597450391
Category : Medical
Languages : en
Pages : 419
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Book Description
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.
Author: Ron Milo
Publisher: Garland Science
ISBN: 1317230698
Category : Science
Languages : en
Pages : 400
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Book Description
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
Author: Barbara J. Bain
Publisher: John Wiley & Sons
ISBN: 0470756896
Category : Medical
Languages : en
Pages : 513
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Book Description
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
Author: Torbjoern Caspersson
Publisher: Elsevier
ISBN: 0323162673
Category : Science
Languages : en
Pages : 357
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Book Description
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.
Author: Samantha Fowler
Publisher:
ISBN: 9781739015503
Category :
Languages : en
Pages : 0
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Book Description
Black & white print. Concepts of Biology is designed for the typical introductory biology course for nonmajors, covering standard scope and sequence requirements. The text includes interesting applications and conveys the major themes of biology, with content that is meaningful and easy to understand. The book is designed to demonstrate biology concepts and to promote scientific literacy.
Author: Adrian T. Sumner
Publisher: John Wiley & Sons
ISBN: 0470695226
Category : Science
Languages : en
Pages : 304
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Book Description
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.
