Human Chromosome Variation Heteromorphism And Polymorphism

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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.

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.

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:

Genetic Variation and Its Maintenance

Author : Derek Frank Roberts
Publisher : Cambridge University Press
ISBN 13 : 9780521332576
Total Pages : 318 pages
Book Rating : 4.3/5 (325 download)

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Book Synopsis Genetic Variation and Its Maintenance by : Derek Frank Roberts

Download or read book Genetic Variation and Its Maintenance written by Derek Frank Roberts and published by Cambridge University Press. This book was released on 1986-10-30 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists.

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Author : R.J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 019932901X
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner

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.

Chromosome Abnormalities and Genetic Counseling

Author : R.J. MKinlay Gardner
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

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.

Chromosome Variations in Human Evolution

Author : Anthony J. Boyce
Publisher :
ISBN 13 :
Total Pages : 156 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Chromosome Variations in Human Evolution by : Anthony J. Boyce

Download or read book Chromosome Variations in Human Evolution written by Anthony J. Boyce and published by . This book was released on 1975 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Chromosomal Variation in Man

Author : Digamber S. Borgaonkar
Publisher :
ISBN 13 :
Total Pages : 466 pages
Book Rating : 4.:/5 (42 download)

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Book Synopsis Chromosomal Variation in Man by : Digamber S. Borgaonkar

Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by . This book was released on 1977 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosome breakage syndromes. Author, selected syndrome index.

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.

The AGT Cytogenetics Laboratory Manual

Author : Marilyn S. Arsham
Publisher : John Wiley & Sons
ISBN 13 : 1119061229
Total Pages : 1216 pages
Book Rating : 4.1/5 (19 download)

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Book Synopsis The AGT Cytogenetics Laboratory Manual by : Marilyn S. Arsham

Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Poplars and Willows

Author : Jud G. Isebrands
Publisher : CABI
ISBN 13 : 1780641087
Total Pages : 700 pages
Book Rating : 4.7/5 (86 download)

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Book Synopsis Poplars and Willows by : Jud G. Isebrands

Download or read book Poplars and Willows written by Jud G. Isebrands and published by CABI. This book was released on 2014-02-12 with total page 700 pages. Available in PDF, EPUB and Kindle. Book excerpt: Poplars and willows form an important component of forestry and agricultural systems, providing a wide range of wood and non-wood products. This book synthesizes research on poplars and willows, providing a practical worldwide overview and guide to their basic characteristics, cultivation and use, issues, problems and trends. Prominence is given to environmental benefits and the importance of poplar and willow cultivation in meeting the needs of people and communities, sustainable livelihoods, land use and development.

Flow Cytometry with Plant Cells

Author : Jaroslav Dolezel
Publisher : John Wiley & Sons
ISBN 13 : 3527610936
Total Pages : 479 pages
Book Rating : 4.5/5 (276 download)

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Book Synopsis Flow Cytometry with Plant Cells by : Jaroslav Dolezel

Download or read book Flow Cytometry with Plant Cells written by Jaroslav Dolezel and published by John Wiley & Sons. This book was released on 2007-06-27 with total page 479 pages. Available in PDF, EPUB and Kindle. Book excerpt: Targeted at beginners as well as experienced users, this handy reference explains the benefits and uses of flow cytometery in the study of plants and their genomes. Following a brief introduction that highlights general considerations when analyzing plant cells by flow cytometric methods, the book goes on to discuss examples of application in plant genetics, genomic analysis, cell cycle analysis, marine organism analysis and breeding studies. With its list of general reading and a glossary of terms, this first reference on FCM in plants fills a real gap by providing first-hand practical hints for the growing community of plant geneticists.

The AGT Cytogenetics Laboratory Manual

Author : Marilyn S. Arsham
Publisher : John Wiley & Sons
ISBN 13 : 1119061172
Total Pages : 1220 pages
Book Rating : 4.1/5 (19 download)

DOWNLOAD NOW!

Book Synopsis The AGT Cytogenetics Laboratory Manual by : Marilyn S. Arsham

Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-03-03 with total page 1220 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Leon P. Bignold
Publisher : Academic Press
ISBN 13 : 0128017538
Total Pages : 469 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Principles of Tumors by : Leon P. Bignold

Download or read book Principles of Tumors written by Leon P. Bignold and published by Academic Press. This book was released on 2015-08-19 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Ecology and Classification of North American Freshwater Invertebrates

Author : James H. Thorp
Publisher : Academic Press
ISBN 13 : 0123748550
Total Pages : 1036 pages
Book Rating : 4.1/5 (237 download)

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Book Synopsis Ecology and Classification of North American Freshwater Invertebrates by : James H. Thorp

Download or read book Ecology and Classification of North American Freshwater Invertebrates written by James H. Thorp and published by Academic Press. This book was released on 2010 with total page 1036 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The third edition of Ecology and Classification of North American Freshwater Invertebrates continues the tradition of in-depth coverage of the biology, ecology, phylogeny, and identification of freshwater invertebrates from the USA and Canada. This text serves as an authoritative single source for a broad coverage of the anatomy, physiology, ecology, and phylogeny of all major groups of invertebrates in inland waters of North America, north of Mexico." --Book Jacket.

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