Human Chromosome Atlas
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Human Chromosome Atlas
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Author : Claudia Behrend
language : en
Publisher: Springer Nature
Release Date : 2023-02-27
Human Chromosome Atlas written by Claudia Behrend and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-02-27 with Medical categories.
Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
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).
Clinical Atlas Of Human Chromosomes
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Author : Jean de Grouchy
language : en
Publisher: John Wiley & Sons
Release Date : 1984
Clinical Atlas Of Human Chromosomes written by Jean de Grouchy 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 1984 with Medical categories.
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.
Human Oocytes And Their Chromosomes
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Author : B.-M. Uebele-Kallhardt
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Human Oocytes And Their Chromosomes written by B.-M. Uebele-Kallhardt 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 Science categories.
The last decade has seen remarkable advances in human ge netics. Once the correct chromosome number of the human genome was ascertained, a wide variety of diseases was rec ognized as due to numerical chromosome anomalies. There followed the discovery that spontaneous abortions are the result of chromosome errors, and specific band patterns of chromosomes allowed identification of minute lesions. The techniques of cell hybridization now allow specific gene assign ment to chromosomes and even to distinct loci on their arms. All this was possible because of the ease with which metaphase chromosomes can be obtained and manipulated. The much older technique of analysis of meiotic chromosomes has taken a back seat in this exciting era. Being much less readily accessi ble, spermatogonial analysis is much less frequently under taken and is less successful. Even more difficult for study is the female meiotic process. Not only is meiosis extraordinar ily long, spanning from before birth to ovulation, the tech niques for its study and the patience required for detailed inquiry have been significant obstacles. At the same time, the suspicion that female meiotic analysis should not only be rewarding but that it may be mandatory has been with us ever since it was recognized that a positive correlation exists between chromosomal nondisjunction and maternal age. Before the intricacies of chromosomal behavior that are re sponsible for nondisjunction are understood, however, it is necessary that we comprehend the normalcy of the process.
Atlas Of Mammalian Chromosomes
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Author : Stephen J. O'Brien
language : en
Publisher: John Wiley & Sons
Release Date : 2006-04-14
Atlas Of Mammalian Chromosomes written by Stephen J. O'Brien 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 2006-04-14 with Science categories.
A stunning visual collection of the banded metaphase chromosomekaryotypes from some 850 species of mammals, the Atlas of MammalianChromosomes represents an unabridged compendium of the state ofthis genomic art form. Bringing together information currentlyscattered throughout the cytogenetics literature for scores ofpublished and unpublished species, this atlas features high-qualitykaryotype images for nearly every mammal studied to date, making itthe most comprehensive assemblage of high-resolution chromosomephotographs available--a critically invaluable resource for today'scomparative genomics era. For every available species, the Atlas of Mammalian Chromosomespresents the best karyotype produced, the common and Latin name ofthe species, the published citation, and the contributing authors.Most karyotypes are G-banded, revealing the chromosomal bar codesof homologous segments among related species. Addressing the mandate of the Human Genome Project to annotate thegenomes of other organisms as well, the Atlas of MammalianChromosomes offers a step forward in our understanding of speciesformation, of genome organization, and of DNA script for naturalselection. It is an invaluable resource for geneticists,mammalogists, and biologists interested in comparative genomics,systematics, and chromosome structure.
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 Atlas
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Author : Claudia Behrend
language : en
Publisher: Springer
Release Date : 2017-07-06
Human Chromosome Atlas written by Claudia Behrend and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-07-06 with Medical categories.
This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Color Atlas Of Genetics
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Author : Eberhard Passarge
language : en
Publisher: Thieme
Release Date : 2011-01-01
Color Atlas Of Genetics written by Eberhard Passarge and has been published by Thieme this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-01-01 with Medical categories.
A remarkable achievement by a single author...concise but informative...No geneticist or physician interested in genetic diseases should be without a copy of this remarkable edition. --American Journal of Medical GeneticsMore than ever, a solid understanding of genetics is a fundamental element of all medical and scientific educational programs, across virtually all disciplines. And the applications--and implications--of genetic research are at the heart of current medical scientific debates. Completely updated and revised, The Color Atlas of Genetics is an invaluable guide for students of medicine and biology, clinicians, and anyone else interested in this rapidly evolving field. The latest edition of this highly praised atlas retains several popular features, such as the accessible layout and logical structure, in addition to many novel features and 20 completely new color plates on new topics, including: Cell-to-cell communication, including important signaling and metabolic pathways Taxonomy of living organisms (tree of life) Epigenetic modifications in chromatin Apoptosis RNA interference (RNAi) Comparative genomic hybridization Origins of cancer Principles of gene and stem cell therapy, etc. With more than 200 absorbing full-color plates concisely explained on facing pages, the atlas offers readers an easy-to-use, yet remarkably detailed guide to key molecular, theoretical, and medical aspects of genetics and genomics. Brief descriptions of numerous genetic diseases are included, with references for more detailed information.Readers will find that this incomparable book presents a comprehensive picture of the field from its fascinating history to its most advanced applications.
Color Atlas Of Genetics
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Author : Eberhard Passarge
language : en
Publisher: Thieme
Release Date : 2017-12-13
Color Atlas Of Genetics written by Eberhard Passarge and has been published by Thieme this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-12-13 with Medical categories.
Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.