Human Chromosome Variation Heteromorphism Polymorphism And Pathogenesis
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Human Chromosome Variation Heteromorphism Polymorphism And Pathogenesis
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Author : Herman E. Wyandt
language : en
Publisher: Springer
Release Date : 2017-03-28
Human Chromosome Variation Heteromorphism Polymorphism And Pathogenesis written by Herman E. Wyandt and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-28 with Medical categories.
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
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Author : Herman E. Wyandt
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-08-20
Human Chromosome Variation Heteromorphism And Polymorphism written by Herman E. Wyandt and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-08-20 with Medical categories.
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.
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease
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Author : Roger N. Rosenberg
language : en
Publisher: Academic Press
Release Date : 2020-06-24
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease written by Roger N. Rosenberg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-24 with Medical categories.
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
Pediatric Board Study Guide
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Author : Osama Naga
language : en
Publisher: Springer Nature
Release Date : 2025-01-18
Pediatric Board Study Guide written by Osama Naga and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2025-01-18 with Medical categories.
The second edition of this text has proved to be a very successful pediatric study guide, helping many pediatricians around the world to study pediatrics in a very easy, simplified way. Even the most complex subjects are condensed into very straight forward and easy to remember information blocks. This book not only prepares students to pass their exams but also prepares pediatricians for general pediatric encounters, emphasizing all new updates from the American Academy of Pediatrics and American Board of Pediatrics. It has proved very popular among new pediatricians and new pediatric residents worldwide. In the last 3 years, the AAP and ABP have released a lot of updates, such as, management of fever in well-appearing infants, COVID-19, asthma management, and new vaccine guidelines from the CDC. The pediatric board exam always includes new diseases, which are included in each chapter, as well as new questions and answers that must be added to the last-minute review chapter, as well as other questions to be edited to follow the new recommendations and guidelines in pediatrics. New pictures and better quality illustrations are also included. Pediatric residents and fellows preparing for the board examination, pediatricians, and pediatric subspecialists preparing for certification maintenance will find Pediatric Board Study Guide: A Last-Minute Review, 3rd edition, easy to use and comprehensive, making it the ideal resource and study tool.
Atlas Of Human Chromosome Heteromorphisms
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Author : H.E. Wyandt
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-09
Atlas Of Human Chromosome Heteromorphisms written by H.E. Wyandt and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-03-09 with Medical categories.
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).
Atlas Of Human Chromosome Heteromorphisms
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Author : H.E. Wyandt
language : en
Publisher: Springer Science & Business Media
Release Date : 2003-12-31
Atlas Of Human Chromosome Heteromorphisms written by H.E. Wyandt and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-12-31 with Medical categories.
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).
Comprehensive Dissertation Index
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Author :
language : en
Publisher:
Release Date : 1989
Comprehensive Dissertation Index written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1989 with Dissertations, Academic categories.
Genetics Abstracts
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Author :
language : en
Publisher:
Release Date : 1991
Genetics Abstracts written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1991 with Genetics categories.
Cumulated Index Medicus
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Author :
language : en
Publisher:
Release Date : 1985
Cumulated Index Medicus written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1985 with Medicine categories.
Human Chromosomes
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Author : Orlando J. Miller
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-06-28
Human Chromosomes written by Orlando J. Miller and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-06-28 with Medical categories.
This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes. This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects.