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Chromosome Number 12
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Book Synopsis Understanding Genetics by : Genetic Alliance
Download or read book Understanding Genetics written by Genetic Alliance and published by Lulu.com. This book was released on 2009 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Book Synopsis Genomic Disorders by : James R. Lupski
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by : Carlo Sala
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
Book Synopsis Chromosome identification: Medicine and Natural Sciences by : Torbjoern Caspersson
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 356 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.
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 The Nutritional Biochemistry of Chromium(III) by : John Vincent
Download or read book The Nutritional Biochemistry of Chromium(III) written by John Vincent and published by Elsevier. This book was released on 2011-10-13 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromium nutritional supplements are the second best selling mineral supplements after calcium as chromium is found in pills, sports drinks, chewing gums, smoothies, and numerous other products. Chromium has been promoted to promote weight loss and muscle development and most recently to be available to treat the symptoms of type 2 diabetes and related conditions. The aim of The Nutritional Biochemistry of Chromium(III) is to examine the four most controversial areas of chromium nutrition and biochemistry: - is chromium an essential element for humans and are chromium nutritional supplements of value? - what biochemical role, if any, does chromium play in the body - can large doses of chromium(III) be used to treat symptoms of type 2 diabetes, cardiovascular disease, and related medical conditions - is the use of chromium(III) supplements a health concern. Scientific experts, who are recognized leaders in the field, weigh in with their opinions on both sides of these issues in this book. A background review of the field from 1955-1995 by Vincent opens the book and concludes with a summary by Dr. Forrest Nielsen, Center Director of the USDA's Grand Forks Human Nutrition Research Center concludes the book. * Point-counterpoint format, providing both sides of major issues * Complete coverage of current issues, including nutrition, health, biochemical role and toxicology * Authors are recognised experts and leaders in this field
Book Synopsis Principles of Bone Biology by : John P. Bilezikian
Download or read book Principles of Bone Biology written by John P. Bilezikian and published by Academic Press. This book was released on 2008-09-29 with total page 2074 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles of Bone Biology provides the most comprehensive, authoritative reference on the study of bone biology and related diseases. It is the essential resource for anyone involved in the study of bone biology. Bone research in recent years has generated enormous attention, mainly because of the broad public health implications of osteoporosis and related bone disorders. Provides a "one-stop" shop. There is no need to search through many research journals or books to glean the information one wants...it is all in one source written by the experts in the field The essential resource for anyone involved in the study of bones and bone diseases Takes the reader from the basic elements of fundamental research to the most sophisticated concepts in therapeutics Readers can easily search and locate information quickly as it will be online with this new edition
Book Synopsis Movement Disorders by : Mark S. LeDoux
Download or read book Movement Disorders written by Mark S. LeDoux and published by Elsevier. This book was released on 2014-10-24 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: The use of animal models is a key aspect of scientific research in numerous fields of medicine. Movement Disorders, Second Edition vigorously examines the important contributions and application of animal models to the understanding of human movement disorders, and serves as an essential resource for basic neuroscientists engaged in movement disorders research. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. The book is divided into sections on Parkinson's disease, Huntington's disease, dystonia, tremor, paroxysmal movement disorders, ataxia, myoclonus, restless legs syndrome, drug-induced movement disorders, multiple system atrophy, progressive supranuclear palsy/corticobasal degeneration, and spasticity. This book serves as an essential resource for both clinicians interested in the science being generated with animal models and basic scientists studying the pathogenesis of particular movement disorders. Introduces the scientific foundations for modern movement disorders research Contributing authors are internationally known experts Completely revised with 20% new material Provides a comprehensive discussion of genetics for each type of movement disorder Covers Parkinson's disease, Huntington's disease, dystonia, tremors, and tics
Book Synopsis Concepts of Biology by : Samantha Fowler
Download or read book Concepts of Biology written by Samantha Fowler and published by . This book was released on 2018-01-07 with total page 618 pages. Available in PDF, EPUB and Kindle. Book excerpt: Concepts of Biology is designed for the single-semester introduction to biology course for non-science majors, which for many students is their only college-level science course. As such, this course represents an important opportunity for students to develop the necessary knowledge, tools, and skills to make informed decisions as they continue with their lives. Rather than being mired down with facts and vocabulary, the typical non-science major student needs information presented in a way that is easy to read and understand. Even more importantly, the content should be meaningful. Students do much better when they understand why biology is relevant to their everyday lives. For these reasons, Concepts of Biology is grounded on an evolutionary basis and includes exciting features that highlight careers in the biological sciences and everyday applications of the concepts at hand.We also strive to show the interconnectedness of topics within this extremely broad discipline. In order to meet the needs of today's instructors and students, we maintain the overall organization and coverage found in most syllabi for this course. A strength of Concepts of Biology is that instructors can customize the book, adapting it to the approach that works best in their classroom. Concepts of Biology also includes an innovative art program that incorporates critical thinking and clicker questions to help students understand--and apply--key concepts.
Author :International Standing Committee on Human Cytogenetic Nomenclature Publisher :Karger Medical and Scientific Publishers ISBN 13 :3318022535 Total Pages :148 pages Book Rating :4.3/5 (18 download)
Book Synopsis ISCN 2013 by : International Standing Committee on Human Cytogenetic Nomenclature
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.
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.
Book Synopsis Diagnostic Pathology: Molecular Oncology E-Book by : Mohammad A. Vasef
Download or read book Diagnostic Pathology: Molecular Oncology E-Book written by Mohammad A. Vasef and published by Elsevier Health Sciences. This book was released on 2023-12-04 with total page 1050 pages. Available in PDF, EPUB and Kindle. Book excerpt: This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Providing a clear understanding of molecular pathology as it relates to the transformation and pathogenesis of cancer in an era of personalized medicine, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to today’s practice. Richly illustrated and easy to use, the third edition of Diagnostic Pathology: Molecular Oncology is a visually stunning, one-stop resource for every practicing pathologist, hematopathologist, molecular pathologist, oncologist, or pathologist in training as an ideal day-to-day reference or as a reliable learning resource. Provides up-to-date, comprehensive coverage of relevant molecular tests and their clinical applications, along with organ-based chapters on the molecular genetic data relevant to individual disease entities Contains new chapters and substantial revisions to existing content that include updates from the 2022 International Consensus Classification and the WHO Classification of Haematolymphoid Tumours, fifth edition Provides expert guidance on selecting the right test(s) at the right time, as well as comparisons of molecular testing methods (e.g., FISH vs. cytogenetics) Includes current information for new actionable mutations and targeted therapies Covers ultrasensitive molecular techniques for minimal residual disease detection and disease monitoring Discusses circulating cell-free DNA analysis for detection of resistance-associated mutations and disease monitoring, and provides usage details Features an image-rich layout with more than 2,400 print and online-only images, including high-resolution H&E stains, immunostains, FISH images, gross pathology and clinical photographs, detailed full-color medical illustrations, and informative diagrams, charts, and schematics Employs consistently templated chapters, bulleted content, key facts, a variety of tables, annotated images, pertinent references, and an extensive index for quick, expert reference at the point of care Any additional digital ancillary content may publish up to 6 weeks following the publication date Molecular oncology is a rapidly evolving field with tremendous amounts of information that is new since the 2e published in March 2019. There is new molecular genetic data linked to either new targeted therapies or that serves as diagnostic or prognostic indicators. The 3e will include 8-10 new chapters and substantial updates and rewrites to existing contents to make sure ongoing edits and revisions to the upcoming WHO Classification of Hematopoietic Tumors are included in the 3e. The authors provide guidance on selecting the right test(s) at the right time for the right patient and comparisons of molecular testing methods (i.e., FSH testing vs. cytogenetics) are included. The market lacks a definitive source of all the recent changes, and DP3 Molecular Oncology will provide a comprehensive information source.
Book Synopsis Human Genes and Genomes by : Leon E. Rosenberg
Download or read book Human Genes and Genomes written by Leon E. Rosenberg and published by Academic Press. This book was released on 2012-05-21 with total page 446 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics
Book Synopsis Molecular Biology of The Cell by : Bruce Alberts
Download or read book Molecular Biology of The Cell written by Bruce Alberts and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment by : Jessica Wapner
Download or read book The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment written by Jessica Wapner and published by The Experiment, LLC. This book was released on 2014-04-08 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of The Wall Street Journal’s 10 Best Nonfiction Books of the Year Philadelphia, 1959: A scientist scrutinizing a single human cell under a microscope detects a missing piece of DNA. That scientist, David Hungerford, had no way of knowing that he had stumbled upon the starting point of modern cancer research— the Philadelphia chromosome. It would take doctors and researchers around the world more than three decades to unravel the implications of this landmark discovery. In 1990, the Philadelphia chromosome was recognized as the sole cause of a deadly blood cancer, chronic myeloid leukemia, or CML. Cancer research would never be the same. Science journalist Jessica Wapner reconstructs more than forty years of crucial breakthroughs, clearly explains the science behind them, and pays tribute—with extensive original reporting, including more than thirty-five interviews—to the dozens of researchers, doctors, and patients with a direct role in this inspirational story. Their curiosity and determination would ultimately lead to a lifesaving treatment unlike anything before it. The Philadelphia Chromosome chronicles the remarkable change of fortune for the more than 70,000 people worldwide who are diagnosed with CML each year. It is a celebration of a rare triumph in the battle against cancer and a blueprint for future research, as doctors and scientists race to uncover and treat the genetic roots of a wide range of cancers.
Book Synopsis Genes, Chromosomes, and Disease by : Nicholas Wright Gillham
Download or read book Genes, Chromosomes, and Disease written by Nicholas Wright Gillham and published by FT Press. This book was released on 2011-03-15 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: This very readable overview of the rise and transformations of medical genetics and of the eugenic impulses that have been inspired by the emerging understanding of the genetic basis of many diseases and disabilities is based on a popular nonmajors course, "Social Implications of Genetics," that Gillham gave for many years at Duke University. The book is suitable for use as a text in similar overview courses about genes and social issues or genes and disease. It gives a good overview of the developments and status of this field for a wide range of biomedical researchers, physicians, and students, especially those interested in the prospects for the new, genetics-based personalized medicine.
