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Phenotypic Mapping Of Down Syndrome
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Book Synopsis Phenotypic Mapping of Down Syndrome by : Charles J. Epstein
Download or read book Phenotypic Mapping of Down Syndrome written by Charles J. Epstein and published by Wiley-Liss. This book was released on 1993-10-28 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in Clinical and Biological Research, Volume 384 The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions Proceedings of a National Down Syndrome Society Conference Held in New York, January 14 and 15, 1993 Charles J. Epstein, Editor In the last decade, considerable progress in the phenotypic mapping of Down syndrome and other syndromes caused by aneuploidy has been made, answering many perplexing questions and raising new ones. Of primary concern is the relationship between the individual components of the Down syndrome phenotype and the specific genes that give rise to them. In its continuing role of supporting basic research through scientific conferences, the National Down Syndrome Society brought together a panel of experts from genetics, molecular, and cellular biology to explore the genotype—phenotype correlations of Down syndrome and other aneuploid conditions. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions discusses approaches to understanding the genetics and the underlying mechanisms of the different phenotypic characteristics of Down syndrome, as well as animal models of trisomy 21 relevant to phenotypic mapping of Down syndrome. Since the precedents for phenotypic mapping go far beyond human chromosome 21, the book also covers several other aneuploid states in addition to Down syndrome itself, thereby presenting the latest information about state-of-the-art approaches to phenotypic mapping. The text is divided into the following sections: General Approach to Phenotypic Mapping in Aneuploidy Phenotypic Mapping of Down Syndrome Phenotypic Mapping of Animal Models Phenotypic Mapping in Conditions Other than Trisomy 21 The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions is essential reading for medical and human geneticists as well as other scientists working in the fields of Down syndrome and related conditions. In addition, clinicians caring for individuals with Down syndrome and other syndromes resulting from aneuploidy will find this book of interest.
Book Synopsis The Molecular Biology of Down Syndrome by : G. Lubec
Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 1999-12-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Fasten Your Seatbelt by : Brian Skotko
Download or read book Fasten Your Seatbelt written by Brian Skotko and published by Special Needs Collection. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even the closest brothers and sisters don't always get along or understand each other. Add a disability like Down syndrome to the mix, and that sibling relationship gets even more complicated, especially for teenagers. Fasten Your Seatbelt is the first book written exclusively for teens with a brother or sister with Down syndrome. In an easy-to-read, question & answer format, it tackles a broad range of their most common issues and concerns. Nearly 100 questions--all posed by teen siblings--are grouped into the following categories: Facts and stats about Down syndrome How people with Down syndrome learn Handling parent and family conflicts Dealing with your sibling's frustrating behaviors Managing uncomfortable situations Sorting out your feelings Becoming an advocate What the future holds for you and your sibling Finding local and national resources Thoughtful, knowledgeable answers are provided by Brian Skotko, the brother of a young woman with Down syndrome, and Sue Levine, a social worker focused on sibling issues for the past 30 years. Fasten Your Seatbelt gives teens the green light to explore their own feelings and questions about their sibling with Down syndrome and how their relationship may change in the future. Wondering whats on their minds? Here are a few sample questions from the book: Why does my brother always have temper tantrums? How can one extra chromosome make someone so different? Can my sister with Down syndrome marry someday? Will my brother be able to live on his own as an adult?
Book Synopsis Genetics and Etiology of Down Syndrome by : Subrata Dey
Download or read book Genetics and Etiology of Down Syndrome written by Subrata Dey and published by BoD – Books on Demand. This book was released on 2011-08-29 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise yet comprehensive source of current information on Down syndrome. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. This book has been divided into four sections, beginning with the Genetics and Etiology and ending with Prenatal Diagnosis and Screening. Inside, you will find state-of-the-art information on: 1. Genetics and Etiology 2. Down syndrome Model 3. Neurologic, Urologic, Dental
Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :
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
Book Synopsis Health Problems in Down Syndrome by :
Download or read book Health Problems in Down Syndrome written by and published by . This book was released on 2015 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Chromosome Translocation by : Yu Zhang
Download or read book Chromosome Translocation written by Yu Zhang and published by Springer. This book was released on 2018-06-28 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases. The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation. It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases.
Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner
Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
Download or read book Brain Transcriptome written by and published by Academic Press. This book was released on 2014-08-27 with total page 365 pages. Available in PDF, EPUB and Kindle. Book excerpt: Published since 1959, International Review of Neurobiology is a well-known series appealing to neuroscientists, clinicians, psychologists, physiologists, and pharmacologists. Led by an internationally renowned editorial board, this important serial publishes both eclectic volumes made up of timely reviews and thematic volumes that focus on recent progress in a specific area of neurobiology research. This volume, concentrates on the brain transcriptome. Brings together cutting-edge research on the brain transcriptome
Book Synopsis Phenotypic Mapping of Down Syndrome by : National Down Syndrome Society (U.S.)
Download or read book Phenotypic Mapping of Down Syndrome written by National Down Syndrome Society (U.S.) and published by Wiley-Liss. This book was released on 1993-10-28 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in Clinical and Biological Research, Volume 384 The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions Proceedings of a National Down Syndrome Society Conference Held in New York, January 14 and 15, 1993 Charles J. Epstein, Editor In the last decade, considerable progress in the phenotypic mapping of Down syndrome and other syndromes caused by aneuploidy has been made, answering many perplexing questions and raising new ones. Of primary concern is the relationship between the individual components of the Down syndrome phenotype and the specific genes that give rise to them. In its continuing role of supporting basic research through scientific conferences, the National Down Syndrome Society brought together a panel of experts from genetics, molecular, and cellular biology to explore the genotype—phenotype correlations of Down syndrome and other aneuploid conditions. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions discusses approaches to understanding the genetics and the underlying mechanisms of the different phenotypic characteristics of Down syndrome, as well as animal models of trisomy 21 relevant to phenotypic mapping of Down syndrome. Since the precedents for phenotypic mapping go far beyond human chromosome 21, the book also covers several other aneuploid states in addition to Down syndrome itself, thereby presenting the latest information about state-of-the-art approaches to phenotypic mapping. The text is divided into the following sections: General Approach to Phenotypic Mapping in Aneuploidy Phenotypic Mapping of Down Syndrome Phenotypic Mapping of Animal Models Phenotypic Mapping in Conditions Other than Trisomy 21 The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions is essential reading for medical and human geneticists as well as other scientists working in the fields of Down syndrome and related conditions. In addition, clinicians caring for individuals with Down syndrome and other syndromes resulting from aneuploidy will find this book of interest.
Book Synopsis Mapping and Sequencing the Human Genome by : National Research Council
Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Book Synopsis Calculating the Secrets of Life by : National Research Council
Download or read book Calculating the Secrets of Life written by National Research Council and published by National Academies Press. This book was released on 1995-04-06 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: As researchers have pursued biology's secrets to the molecular level, mathematical and computer sciences have played an increasingly important roleâ€"in genome mapping, population genetics, and even the controversial search for "Eve," hypothetical mother of the human race. In this first-ever survey of the partnership between the two fields, leading experts look at how mathematical research and methods have made possible important discoveries in biology. The volume explores how differential geometry, topology, and differential mechanics have allowed researchers to "wind" and "unwind" DNA's double helix to understand the phenomenon of supercoiling. It explains how mathematical tools are revealing the workings of enzymes and proteins. And it describes how mathematicians are detecting echoes from the origin of life by applying stochastic and statistical theory to the study of DNA sequences. This informative and motivational book will be of interest to researchers, research administrators, and educators and students in mathematics, computer sciences, and biology.
Book Synopsis Human Chromosomes by : Orlando J. Miller
Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
Book Synopsis A Guide to QTL Mapping with R/qtl by : Karl W. Broman
Download or read book A Guide to QTL Mapping with R/qtl written by Karl W. Broman and published by Springer. This book was released on 2011-12-02 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive discussion of QTL mapping concepts and theory Detailed instructions on the use of the R/qtl software, the most featured and flexible software for QTL mapping Two case studies illustrate QTL analysis in its entirety
Book Synopsis Down Syndrome by : Siegfried M. Pueschel
Download or read book Down Syndrome written by Siegfried M. Pueschel and published by . This book was released on 1982 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ce document propose un éventail des différentes recherches et découvertes touchant le syndrome de Down, tout particulièrement dans les domaines de la biologie médicale et des sciiences du comportement, En plus de l'historique de ce syndrome, l'étiologie, l'épidémiologie, de la cytogénétique (reproduction cellulaire) et différents aspects bio-médicaux de ce syndrome, il est également abordé le counseling aux parents, l'intervention précoce, le développement cognitif de la personne ainsi que son avenir et son autonomie.
Book Synopsis Genomics, Proteomics, and the Nervous System by : James D Clelland
Download or read book Genomics, Proteomics, and the Nervous System written by James D Clelland and published by Springer Science & Business Media. This book was released on 2010-12-03 with total page 598 pages. Available in PDF, EPUB and Kindle. Book excerpt: This newest volume of Advances in Neurobiology discusses the utilization of genomic and proteomic technologies, to address facets of neurobiology including development and epigenetic regulation, functions in learning and memory, and changes associated with neurological and psychiatric disorders.
