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Author: International Standing Committee on Human Cytogenetic Nomenclature Publisher: Karger Medical and Scientific Publishers ISBN: 3318022535 Category : Medical Languages : en Pages : 148
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: International Standing Committee on Human Cytogenetic Nomenclature Publisher: Karger Medical and Scientific Publishers ISBN: 3318022535 Category : Medical Languages : en Pages : 148
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: G. Lubec Publisher: Springer Science & Business Media ISBN: 9783211833773 Category : Medical Languages : en Pages : 380
Book Description
This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
Author: R.J. McKinlay Gardner Publisher: Oxford University Press ISBN: 019932901X Category : Medical Languages : en Pages : 729
Book Description
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Author: R.J. MKinlay Gardner Publisher: OUP USA ISBN: 0195375335 Category : Medical Languages : en Pages : 650
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: Ajay Vora Publisher: Springer ISBN: 3319397087 Category : Medical Languages : en Pages : 345
Book Description
This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.
Author: Samantha Fowler Publisher: ISBN: 9781680922400 Category : Science Languages : en Pages : 622
Book Description
The images in this textbook are in color. There is a less-expensive non-color version available - search for ISBN 9781680922202. 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.
Author: Patrick R. Hof Publisher: Elsevier ISBN: 008052558X Category : Medical Languages : en Pages : 989
Book Description
Some well-known age-related neurological diseases include Parkinson's disease, Alzheimer's disease, deafness, and blindness. Even more common are the problems of aging which are not due to disease but to more subtle impairments in neurobiological systems, including impairments in vision, memory loss, muscle weakening, and loss of reproductive functions, changes in body weight, and sleeplessness. As the average age of our society increases, diseases of aging continue to become more common, and conditions associated with aging need more attention by doctors and researchers. In 1991, patients over the age of 65 saw their doctors an average of eight times per year. Research funding is provided by the Neuroscience and Neuropsychology of Aging (NNA) Program, which is run by the National Institute on Aging. This book offers a comprehensive overview of all topics related to functional impairments which are related to the aging brain and nervous system. It is organized according to four general functions: movement, senses, memory, and neuroendocrine regulation. Written by the leading researchers in the field, this comprehensive work addresses both impairments associated with diseases and not associated with diseases, making it easier to understand the mechanisms involved. Functional Neurobiology of Aging is an important reference for professionals and students involved in aging research, as well as physicians who need to recognize and understand age-related impairments. Organized by function, making it easy to find and understand the material Addresses impairments both associated with diseases and not associated with diseases Written by leading researchers in the field Most comprehensive source of information on the neurobiology of aging
Author: Andrew E. Budson Publisher: Elsevier Health Sciences ISBN: 0323316107 Category : Medical Languages : en Pages : 293
Book Description
Now presented in full color, this updated edition of Memory Loss, Alzheimer's Disease, and Dementia is designed as a practical guide for clinicians that delivers the latest treatment approaches and research findings for dementia and related illnesses. Drs. Budson and Solomon — both key leaders in the field — cover the essentials of physical and cognitive examinations and laboratory and imaging studies, giving you the tools you need to consistently make accurate diagnoses in this rapidly growing area. Access in-depth coverage of clinically useful diagnostic tests and the latest treatment approaches. Detailed case studies facilitate the management of both common and uncommon conditions. Comprehensive coverage of hot topics such as chronic traumatic encephalopathy, in addition to new criteria on vascular dementia and vascular cognitive impairment. Includes new National Institute on Aging–Alzheimer's Association and DSM-5 criteria for Alzheimer’s Disease and Mild Cognitive Impairment. Learn how to use new diagnostic tests, such as the amyloid imaging scans florbetapir (Amyvid), flutemetamol (Vizamyl), and florbetaben (Neuraceq), which can display amyloid plaques in the living brains of patients. Updated case studies, many complete with videos illustrating common tests, clinical signs, and diagnostic features, are now incorporated into the main text as clinical vignettes for all major disorders. Brand-new chapters on how to approach the differential diagnosis and on primary progressive aphasia. Expert Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, references, and videos from the book on a variety of devices.
Author: Thomas Liehr Publisher: Springer Science & Business Media ISBN: 3642207669 Category : Medical Languages : en Pages : 233
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
Author: International Standing Committee on Human Cytogenetic Nomenclature
Author: G. Lubec
Author: R.J. McKinlay Gardner
Author: R.J. MKinlay Gardner
Author: Ajay Vora
Author: Samantha Fowler
Author: David James Matthes
Author: Patrick R. Hof
Author: Andrew E. Budson
Author: Thomas Liehr