Human Chromosome Variation Heteromorphism And Polymorphism
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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.
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).
The Agt Cytogenetics Laboratory Manual
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Author : Marilyn S. Arsham
language : en
Publisher: John Wiley & Sons
Release Date : 2017-03-03
The Agt Cytogenetics Laboratory Manual written by Marilyn S. Arsham and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-03 with Science categories.
Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.
Principles Of Tumors
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Author : Leon P. Bignold
language : en
Publisher: Academic Press
Release Date : 2015-08-19
Principles Of Tumors written by Leon P. Bignold and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-08-19 with Science categories.
Principles of Tumors covers all of the fundamental aspects of tumors, including their definitions, incidences, causation, pathogenesis, treatments, and prevention. The book provides a unique approach, integrating a wide range of basic bioscience findings with clinico-pathological observations and phenomena encountered in their treatment. As tumors are studied in fairly separate, broad areas, such as basic biological sciences, pathology, oncology, and epidemiology, this book brings together these perspectives, providing an all-inclusive text that benefits all researchers, while also providing an avenue for translational research. - Integrates both cell mechanisms and tumor physiopathology - Brings together research and perspectives from basic biological sciences, pathology, oncology, and epidemiology, providing an all-inclusive text - Provides a concise tumor reference for the tumor researcher and oncologist - Includes appendices for foundational material - Brings out the cell detail of tumors
Heterochromatin
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Author : Ram Sagar Verma
language : en
Publisher: Cambridge University Press
Release Date : 1988-05-27
Heterochromatin written by Ram Sagar Verma and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1988-05-27 with Medical categories.
'The material included in Heterochromatin is impressively comprehensive and provides timely, authoritative information that would otherwise be difficult to obtain.' BioScience
Manual Of Cytogenetics In Reproductive Biology
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Author : Pankaj Talwar
language : en
Publisher: JP Medical Ltd
Release Date : 2014-02-28
Manual Of Cytogenetics In Reproductive Biology written by Pankaj Talwar and has been published by JP Medical Ltd this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-02-28 with Medical categories.
Cytogenetics is the study of the structure and function of the cell, particularly chromosomes. Manual of Cytogenetics in Reproductive Biology examines the diagnostic role of cytogenetics in improving the outcome of assisted reproductive technologies (ART). Divided into six sections, the book begins with the basics of genetics, followed by investigative cytogenetics, applied cytogenetics, recent advances, preimplantation and prenatal cytogenetics. This comprehensive guide includes nearly 200 clinical images, diagrams and tables, and is an invaluable reference for practising specialists in genetics, infertility and obstetrics and gynaecology. Key points Examines diagnostic role of cytogenetics in improving outcome of ART Six sections each providing in depth coverage of different aspects of cytogenetics Includes nearly 200 clinical images, diagrams and tables Invaluable for specialists in genetics, infertility and OBSGY
Essentials Of Human Genetics 4th Edn
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Author : Bhatnagar
language : en
Publisher: Orient Blackswan
Release Date : 1999
Essentials Of Human Genetics 4th Edn written by Bhatnagar and has been published by Orient Blackswan this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999 with categories.
A Comprehensive Text For Undergraduate And Postgraduate Medical Students And Students Of Genetics, This Book Deals With The Principles Of Human Genetics, And Discusses The Mechanism Of Inheritance At The Molecular And Genetic Level. It Also Examines The Latest Conceptual And Technological Developments In The Field Of Genetics.
Advances In Forensic Haemogenetics
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Author : H.F. Polesky
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Advances In Forensic Haemogenetics written by H.F. Polesky 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 2012-12-06 with Medical categories.
The third volume of "Advances in Forensic Haemogenetics" contains the th scientific contributions presented at the 13 Congress of the International Society for Forensic Haemogenetics, held on October 19-21, 1989 in New Orleans, USA. The conference was organized and chaired by Dr. Herbert Polesky from Minneapolis. He and the local organizing committee which consisted of our friends and colleagues (J. Soubrada, L.R.Bryant, Dale D.Dykes, Ch.Harrison, P.Newall and R. Walker) deserve the thanks of our Society for a very successful meeting. Herb Polesky has also contributed a great deal to the preparation of this book. The contributions to the conference covered all fields of forensic haemo genetics, but an outstanding highlight of this conference was the application ofDNA-polymorphisms to paternity and to the identification of stains. This included basic lectures on biostatistical approaches as well as on molecular biology and many new technical approaches to our general and special aims. Forensic haemogenetics has now merged into a new discipline without having lost its original identity. On behalf of the Executive Committee of our Society I would like to extend my thanks to the authors of the articles contained in this book and to Springer-Verlag for having made such a quick publication possible. The volume should give the reader a picture of the state of the art and a survey of the most recent developments in the field of forensic and general haemo genetics.
Index Medicus
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Author :
language : en
Publisher:
Release Date : 2001-05
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 2001-05 with Medicine categories.
Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.