Chromosome Number 13

Author : Carlo Sala
Publisher : Academic Press
ISBN 13 : 0128005335
Total Pages : 394 pages
Book Rating : 4.30/5 ( download)

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Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture

Author : Digamber S. Borgaonkar
Publisher : John Wiley & Sons
ISBN 13 : 9780471833369
Total Pages : 0 pages
Book Rating : 4.63/5 ( download)

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Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by John Wiley & Sons. This book was released on 1984 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Lynn C. Garfunkel
Publisher : Elsevier Health Sciences
ISBN 13 : 0323070582
Total Pages : 858 pages
Book Rating : 4.84/5 ( download)

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Download or read book Pediatric Clinical Advisor E-Book written by Lynn C. Garfunkel and published by Elsevier Health Sciences. This book was released on 2007-07-05 with total page 858 pages. Available in PDF, EPUB and Kindle. Book excerpt: Quickly and confidently access the on-demand, go-to guidance you need to diagnose, treat, and manage hundreds of pediatric disorders! A new user-friendly "five-books-in-one" format makes it easier than ever for you to zero in on nearly 400 common pediatric diagnoses, common signs and symptoms (with diagnostic algorithms and differentials), plus commonly used tables, equations, and charts. Find the specific information you need quickly and easily with the aid of a consistent, bulleted outline format and alphabetical listings of diseases, topics, differential diagnoses, and algorithms. Deliver the best outcomes by incorporating clinical pearls from experts in the field into your practice. Reference the complete contents online anytime, fully searchable. Consult either the user-friendly text or the fully searchable web site to provide high-quality pediatric patient care - efficiently and effectively.

Author : R.J. MKinlay Gardner
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.36/5 ( download)

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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.

Author : Azzam F.G. Taktak
Publisher : Elsevier
ISBN 13 : 9780080468037
Total Pages : 482 pages
Book Rating : 4.39/5 ( download)

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Download or read book Outcome Prediction in Cancer written by Azzam F.G. Taktak and published by Elsevier. This book was released on 2006-11-28 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is organized into 4 sections, each looking at the question of outcome prediction in cancer from a different angle. The first section describes the clinical problem and some of the predicaments that clinicians face in dealing with cancer. Amongst issues discussed in this section are the TNM staging, accepted methods for survival analysis and competing risks. The second section describes the biological and genetic markers and the rôle of bioinformatics. Understanding of the genetic and environmental basis of cancers will help in identifying high-risk populations and developing effective prevention and early detection strategies. The third section provides technical details of mathematical analysis behind survival prediction backed up by examples from various types of cancers. The fourth section describes a number of machine learning methods which have been applied to decision support in cancer. The final section describes how information is shared within the scientific and medical communities and with the general population using information technology and the World Wide Web. * Applications cover 8 types of cancer including brain, eye, mouth, head and neck, breast, lungs, colon and prostate * Include contributions from authors in 5 different disciplines * Provides a valuable educational tool for medical informatics

Author : Graham Dellaire
Publisher : Academic Press
ISBN 13 : 0123972744
Total Pages : 510 pages
Book Rating : 4.43/5 ( download)

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Download or read book Cancer Genomics written by Graham Dellaire and published by Academic Press. This book was released on 2013-11-21 with total page 510 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics addresses how recent technological advances in genomics are shaping how we diagnose and treat cancer. Built on the historical context of cancer genetics over the past 30 years, the book provides a snapshot of the current issues and state-of-the-art technologies used in cancer genomics. Subsequent chapters highlight how these approaches have informed our understanding of hereditary cancer syndromes and the diagnosis, treatment and outcome in a variety of adult and pediatric solid tumors and hematologic malignancies. The dramatic increase in cancer genomics research and ever-increasing availability of genomic testing are not without significant ethical issues, which are addressed in the context of the return of research results and the legal considerations underlying the commercialization of genomic discoveries. Finally, the book concludes with "Future Directions", examining the next great challenges to face the field of cancer genomics, namely the contribution of non-coding RNAs to disease pathogenesis and the interaction of the human genome with the environment. Tools such as sidebars, key concept summaries, a glossary, and acronym and abbreviation definitions make this book highly accessible to researchers from several fields associated with cancer genomics. Contributions from thought leaders provide valuable historical perspective to relate the advances in the field to current technologies and literature.

Author : Torbjoern Caspersson
Publisher : Elsevier
ISBN 13 : 0323162673
Total Pages : 357 pages
Book Rating : 4.78/5 ( download)

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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.

Author : International Standing Committee on Human Cytogenetic Nomenclature
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318022535
Total Pages : 148 pages
Book Rating : 4.37/5 ( download)

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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.

Author :
Publisher : Elsevier
ISBN 13 : 0444543007
Total Pages : 273 pages
Book Rating : 4.04/5 ( download)

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Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Author : Alison Fiander
Publisher : Cambridge University Press
ISBN 13 : 1107667135
Total Pages : 557 pages
Book Rating : 4.36/5 ( download)

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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.