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Human Chromosome Variation Heteromorphism Polymorphism And Pathogenesis
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Book Synopsis Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis by : Herman E. Wyandt
Download or read book Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Book Synopsis Human Chromosome Variation: Heteromorphism and Polymorphism by : Herman E. Wyandt
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.
Book Synopsis Atlas of Human Chromosome Heteromorphisms by : H.E. Wyandt
Download or read book Atlas of Human Chromosome Heteromorphisms written by H.E. Wyandt and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).
Book Synopsis Human Reproductive Genetics by : Juan A. Garcia-Velasco
Download or read book Human Reproductive Genetics written by Juan A. Garcia-Velasco and published by Academic Press. This book was released on 2020-04-19 with total page 342 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Reproductive Genetics: Emerging Technologies and Clinical Applications presents a great reference for clinicians and researchers in reproductive medicine. Part I includes a brief background of genetics and epigenetics, probability of disease, and the different techniques that are being used today for analysis and genetic counseling. Part II focuses on the analysis of the embryo, current controversies and future concepts. Part III comprises different clinical scenarios that clinicians frequently face in practice. The increasing amount of genetic tests available and the growing information that patients handle makes this section a relevant part of the fertility treatment discussion. Finally, Part IV concludes with the psychological aspects of genetic counseling and the role of counselor and bioethics in human reproduction. Provides an essential reference for clinicians involved in reproductive medicine Builds foundational knowledge on new genetic tests coming into the clinical scenario for physicians involved with patients Assembles critically evaluated chapters that cover basic concepts of genetics and epigenetics and the techniques involved, including preimplantation genetic testing, controversies, and more
Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg
Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Academic Press. This book was released on 2020-06-24 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics
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 History of Human Genetics by : Heike I. Petermann
Download or read book History of Human Genetics written by Heike I. Petermann and published by Springer. This book was released on 2017-05-10 with total page 576 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.
Book Synopsis Comprehensive Dissertation Index by :
Download or read book Comprehensive Dissertation Index written by and published by . This book was released on 1989 with total page 752 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Congenital Malformations of the Head and Neck by : Lisa M. Elden
Download or read book Congenital Malformations of the Head and Neck written by Lisa M. Elden and published by Springer Science & Business Media. This book was released on 2013-12-02 with total page 198 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital Malformations of the Head and Neck offers a unique conceptual and visual approach to children with congenital malformations of the head and neck. Developed by renowned leaders in the field, this title is richly illustrated with a wealth of patient photos, radiology and endoscopic images of malformations. Starting with the genetics of common congenital syndromes, Congenital Malformations of the Head and Neck goes on to comprehensively cover malformations of the ear, nose, nasopharynx, oral cavity, oropharynx, cleft lip and palate, larynx, trachea, and neck. Easy-to-read and an indispensable reference and teaching resource, this title will serve as an invaluable reference for clinicians, neurologists, pediatricians, otolaryngologists and head and neck surgeons. It should also be of great interest to fellows and residents.
Book Synopsis Myotonic Dystrophy by : Masanori P. Takahashi
Download or read book Myotonic Dystrophy written by Masanori P. Takahashi and published by Springer. This book was released on 2018-10-31 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: “RNA disease”. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease’s various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists.
Book Synopsis Pediatric Board Study Guide by : Osama Naga
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 614 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Book Synopsis Essential Medical Genetics by : Michael Connor
Download or read book Essential Medical Genetics written by Michael Connor and published by Wiley-Blackwell. This book was released on 1997-04-29 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics.
Download or read book Fungal Pathology written by J.W. Kronstad and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book brings together twelve chapters on fungal pathogens with the goal of presenting an overview of the current areas of activity and the common themes that pervade research on these important organisms. The timing of the book is appropriate because we have gained sufficient insight from molecular genetic analyses to begin to make some comparisons between different fungal pathogens and to discuss the key advances that have been made. The chapters provide a broad survey of the important topics in fungal pathogenesis including morphogenesis, virulence, avirulence, and signaling. The reader also will fmd clear discussions of parasitism, mutualism, symbiosis, evolution, phylogeny and ecology for those fungi where these issues are especially important. Finally, many of the chapters in this book illustrate the fact that we are on the verge of a revolution in our understanding of fungal pathogens because of the application of genomics to these organisms and their hosts. The fungi included in this book represent many of the most intensively investigated fungal pathogens of plants; in this regard, a chapter is also included for pathogens in the Phytophthora group, even though these organisms are no longer classified as fungi. It is appropriate to include Phytophthora for historical reasons and, in addition, the insights in terms of pathogenesis and host-specific interactions are important to keep in mind when considering fungal pathogens. Chapters are also included on pathogens of insects and humans, as well as endophytic fungi.
Book Synopsis Fluorescence in situ Hybridization (FISH) by : Joanna M. Bridger
Download or read book Fluorescence in situ Hybridization (FISH) written by Joanna M. Bridger and published by Humana Press. This book was released on 2010-09-09 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fluorescence in situ Hybridization (FISH) belongs to that special category of well-established molecular biology techniques that, since their inception a few decades ago, have succeeded in keeping a prominent position within the constantly expanding list of laboratory pro- dures for biomedical research and clinical diagnostics. The design simplicity and cost-effectiveness of the early FISH protocols, combined with the signifcant acceleration of discoveries in related technical areas such as fuor- cence microscopy, digital imaging, and nucleic acid technology have prompted the div- sifcation of the original technique into an outstanding number of imaginative and useful applications, and thus have not only held back its outmoding but have also promoted its expansion into different areas of basic and applied research in the post-genomic era. The 34 chapters included in this book aim at portraying the vibrant complexity and diversity of the current FISH protocol landscape, providing cutting-edge examples of va- ous applications for genetic and developmental research, cancer research, reproductive medicine, diagnostic and prognostic purposes, microbial ecology, and evolutionary st- ies. The book is divided in four parts: (I) Core Techniques, (II) Technical Advancements and Novel Adaptations, (III) Translational FISH: Applications for Human Genetics and Medicine, and (IV) Protocols for Model Organisms.
Book Synopsis The Evolutionary Biology of Flies by : David K. Yeates
Download or read book The Evolutionary Biology of Flies written by David K. Yeates and published by Columbia University Press. This book was released on 2005-06-22 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: Flies (Dipteria) have had an important role in deepening scientists'understanding of modern biology and evolution. The study of flies has figured prominently in major advances in the fields of molecular evolution, physiology, genetics, phylogenetics, and ecology over the last century. This volume, with contributions from top scientists and scholars in the field, brings together diverse aspects of research and will be essential reading for entomologists and fly researchers.
Book Synopsis Genome Mapping and Genomics in Fishes and Aquatic Animals by : Thomas D. Kocher
Download or read book Genome Mapping and Genomics in Fishes and Aquatic Animals written by Thomas D. Kocher and published by Springer Science & Business Media. This book was released on 2008-06-07 with total page 195 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mapping of animal genomes has generated huge databases and several new concepts and strategies, which are useful to elucidate origin, evolution and phylogeny. Genetic and physical maps of genomes further provide precise details on chromosomal location, function, expression and regulation of academically and economically important genes. The series Genome Mapping and Genomics in Animals provides comprehensive and up-to-date reviews on genomic research on a large variety of selected animal systems, contributed by leading scientists from around the world. This volume summarizes the first era of genomic studies of aquaculture species, in which the tools and resources necessary to support whole-genome sequencing were developed. These tools will enhance efforts toward selective breeding of aquaculture species. Included in this volume are summaries of work on salmonids, cyprinids, catfish, tilapias, European sea bass, Japanese flounder, shrimps and oysters.
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1985 with total page 1100 pages. Available in PDF, EPUB and Kindle. Book excerpt:
