Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

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 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

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:

Download or read book Small Supernumerary Marker Chromosomes sSMC written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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.

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 729 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.

Download or read book Chromosome Number 15 written by Human Genome Project and published by . This book was released on 2004 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

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.

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 396 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

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.

Download or read book The Human Genome written by Julia E. Richards and published by Academic Press. This book was released on 2010-12-12 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information. Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students Full, 4-color illustration program enhances and reinforces key concepts and themes Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers

Download or read book Human Chromosome Variation Heteromorphism and Polymorphism written by Herman E. Wyandt and published by Springer Science & Business Media. This book was released on 2011-08-20 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variations of the human karyotype with summaries and extensive reference lists organized by chromosome number. This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.

Download or read book Ocular Pathology written by Myron Yanoff and published by . This book was released on 2002 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new, 5th Edition of the premier ocular pathology resource offers the latest information in the field. Over 2095 illustrations *1800 in full color* from the authors' collections represent one of the finest compilations of rare and unusual ocular conditions available. Comprehensive, yet concise, it explores new topics such as complications of corneal surgery, vascular disorders, secondary cataracts, bone-marrow transplant retinopathy, neural retinal detachment, ocular melanotic tumors, and more. Plus, a companion CD-ROM and text/CD-ROM package are available! Explores new topics such as complications of corneal surgery, vascular disorders, secondary cataracts, bone-marrow transplant retinopathy, neural retinal detachment, and ocular melanotic tumors (including diabetes). Offers expanded coverage of entities such as chromosome 17 deletion syndrome, necrobiotic xanthogranuloma, climatic protoglycan stromal keratopathy, unilateral acute idiopathic maculopathy, acute mutifocal retinitis, idiopathic polypoidal choroidal vasculopathy, North Carolina macular dystrophy, familial internal limiting membrane dystrophy, clumped pigmentary retinal dystrophy (clumped pigmentary retinal degeneration), vasoproliferative retinal tumors, Schwartz's syndrome, familial amyloidotic polyneuropathy, familial atypical mole and melanoma (FAM-M) syndrome, and more! Features specific genetic profiles for many existing entities.

Download or read book Genome written by Matt Ridley and published by Harper Collins. This book was released on 2013-03-26 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Ridley leaps from chromosome to chromosome in a handy summation of our ever increasing understanding of the roles that genes play in disease, behavior, sexual differences, and even intelligence. . . . . He addresses not only the ethical quandaries faced by contemporary scientists but the reductionist danger in equating inheritability with inevitability.” — The New Yorker The genome's been mapped. But what does it mean? Matt Ridley’s Genome is the book that explains it all: what it is, how it works, and what it portends for the future Arguably the most significant scientific discovery of the new century, the mapping of the twenty-three pairs of chromosomes that make up the human genome raises almost as many questions as it answers. Questions that will profoundly impact the way we think about disease, about longevity, and about free will. Questions that will affect the rest of your life. Genome offers extraordinary insight into the ramifications of this incredible breakthrough. By picking one newly discovered gene from each pair of chromosomes and telling its story, Matt Ridley recounts the history of our species and its ancestors from the dawn of life to the brink of future medicine. From Huntington's disease to cancer, from the applications of gene therapy to the horrors of eugenics, Ridley probes the scientific, philosophical, and moral issues arising as a result of the mapping of the genome. It will help you understand what this scientific milestone means for you, for your children, and for humankind.

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.