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Author: Human Genome Project
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Author: Human Genome Project
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author:
Publisher: Elsevier
ISBN: 0444543007
Category : Medical
Languages : en
Pages : 273
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Book Description
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: Bruce Alberts
Publisher:
ISBN: 9780815332183
Category : Cytology
Languages : en
Pages : 0
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Author: Arie Perry
Publisher: Elsevier Health Sciences
ISBN: 0323508669
Category : Medical
Languages : en
Pages : 640
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Book Description
Part of the in-depth and practical Pattern Recognition series, Practical Surgical Neuropathology, 2nd Edition, by Drs. Arie Perry and Daniel J. Brat, helps you arrive at an accurate CNS diagnosis by using a pattern-based approach. Leading diagnosticians in neuropathology guide you from a histological (and/or clinical, radiologic, and molecular) pattern, through the appropriate work-up, around the pitfalls, and to the best diagnosis. Almost 2,000 high-quality illustrations capture key neuropathological patterns for a full range of common and rare conditions, and a "visual index" at the beginning of the book directs you to the exact location of in-depth diagnostic guidance. Instructive algorithms provide detailed guidance based on 8 major (scanning magnification) patterns and 20 minor (high magnification) patterns – helping you narrow the range of diagnostic possibilities. A user-friendly design color-codes patterns to specific entities, and key points are summarized in tables, charts, and graphs so you can quickly and easily find what you are looking for. Sweeping content updates keep you at the forefront of recent findings regarding gliomas, embryonal neoplasms, meningiomas, pituitary region and pineal tumors, epilepsy pathology, peripheral nerve sheath tumors, neurodegenerative disorders, tumor predisposition syndromes, and much more. Improved pattern call-outs are now linked directly within the chapter, reinforcing the patterns for more efficient and complete understanding.
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: Peter Igaz
Publisher: Springer Nature
ISBN: 3030259056
Category : Science
Languages : en
Pages : 476
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Book Description
This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Author:
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author:
Publisher: Elsevier
ISBN: 0444640770
Category : Medical
Languages : en
Pages : 480
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Book Description
Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
Author: Thomas Liehr
Publisher: Springer Science & Business Media
ISBN: 3642207669
Category : Medical
Languages : en
Pages : 233
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Book Description
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
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.
