Human Chromosome Variation Heteromorphism Polymorphism And Pathogenesis

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Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Author : Herman E. Wyandt
Publisher : Springer
ISBN 13 : 9811030359
Total Pages : 500 pages
Book Rating : 4.8/5 (11 download)

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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 500 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.

Human Chromosome Variation: Heteromorphism and Polymorphism

Author : Herman E. Wyandt
Publisher : Springer Science & Business Media
ISBN 13 : 9400708963
Total Pages : 216 pages
Book Rating : 4.4/5 (7 download)

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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.

Atlas of Human Chromosome Heteromorphisms

Author : H.E. Wyandt
Publisher : Springer Science & Business Media
ISBN 13 : 9401704333
Total Pages : 314 pages
Book Rating : 4.4/5 (17 download)

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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 314 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).

Human Chromosome Variation

Author : Susan Bennett Olson
Publisher :
ISBN 13 :
Total Pages : 298 pages
Book Rating : 4.:/5 (12 download)

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Book Synopsis Human Chromosome Variation by : Susan Bennett Olson

Download or read book Human Chromosome Variation written by Susan Bennett Olson and published by . This book was released on 1984 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Human Reproductive Genetics

Author : Juan A. Garcia-Velasco
Publisher : Academic Press
ISBN 13 : 0128167491
Total Pages : 342 pages
Book Rating : 4.1/5 (281 download)

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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

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg
Publisher : Academic Press
ISBN 13 : 0128139560
Total Pages : 1013 pages
Book Rating : 4.1/5 (281 download)

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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

Human Chromosomes

Author : Orlando J. Miller
Publisher : Springer Science & Business Media
ISBN 13 : 1461301394
Total Pages : 508 pages
Book Rating : 4.4/5 (613 download)

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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 508 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.

Comprehensive Dissertation Index

Author :
Publisher :
ISBN 13 :
Total Pages : 752 pages
Book Rating : 4.3/5 (91 download)

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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:

Genetics Abstracts

Author :
Publisher :
ISBN 13 :
Total Pages : 830 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genetics Abstracts by :

Download or read book Genetics Abstracts written by and published by . This book was released on 1991 with total page 830 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cumulated Index Medicus

Author :
Publisher :
ISBN 13 :
Total Pages : 1100 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Cumulated Index Medicus by :

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:

Essential Medical Genetics

Author : Michael Connor
Publisher : Wiley-Blackwell
ISBN 13 : 9780865426665
Total Pages : 248 pages
Book Rating : 4.4/5 (266 download)

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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.

Pediatric Neurology

Author : Kenneth F. Swaiman
Publisher : Mosby Elsevier Health Science
ISBN 13 :
Total Pages : 840 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Pediatric Neurology by : Kenneth F. Swaiman

Download or read book Pediatric Neurology written by Kenneth F. Swaiman and published by Mosby Elsevier Health Science. This book was released on 1994 with total page 840 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Congenital Malformations of the Head and Neck

Author : Lisa M. Elden
Publisher : Springer Science & Business Media
ISBN 13 : 1441917144
Total Pages : 198 pages
Book Rating : 4.4/5 (419 download)

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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.

Pediatric Board Study Guide

Author : Osama Naga
Publisher : Springer
ISBN 13 : 3319101153
Total Pages : 611 pages
Book Rating : 4.3/5 (191 download)

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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 611 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.

Myotonic Dystrophy

Author : Masanori P. Takahashi
Publisher : Springer
ISBN 13 : 9789811344367
Total Pages : 0 pages
Book Rating : 4.3/5 (443 download)

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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 2018-12-29 with total page 0 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.

Handbook of Child Language Disorders

Author : Richard G. Schwartz
Publisher : Psychology Press
ISBN 13 : 1136872833
Total Pages : 1140 pages
Book Rating : 4.1/5 (368 download)

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Book Synopsis Handbook of Child Language Disorders by : Richard G. Schwartz

Download or read book Handbook of Child Language Disorders written by Richard G. Schwartz and published by Psychology Press. This book was released on 2010-10-18 with total page 1140 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Handbook of Child Language Disorders provides an in-depth, comprehensive, and state-of-the-art review of current research concerning the nature, assessment, and remediation of language disorders in children. The book includes chapters focusing on specific groups of childhood disorders (SLI, autism, genetic syndromes, dyslexia, hearing impairment); the linguistic, perceptual, genetic, neurobiological, and cognitive bases of these disorders; and the context of language disorders (bilingual, across dialects, and across languages). To examine the nature of deficits, their assessment and remediation across populations, chapters address the main components of language (morphology, syntax, semantics, and pragmatics) and related areas (processing, memory, attention, executive function such as reading and writing). Finally, even though there is extensive information regarding research and clinical methods in each chapter, there are individual chapters that focus directly on research methods. This Handbook is a comprehensive reference source for clinicians and researchers and can be used as a textbook for undergraduate, masters, and doctoral students in speech-language pathology, developmental psychology, special education, disabilities studies, neuropsychology and in other fields interested in children's language disorders.

The Evolutionary Biology of Flies

Author : David K. Yeates
Publisher : Columbia University Press
ISBN 13 : 0231501706
Total Pages : 441 pages
Book Rating : 4.2/5 (315 download)

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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.