Clinical Atlas Of Human Chromosomes

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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 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).

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 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.

Color Atlas Of Genetics

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Author : Eberhard Passarge
language : en
Publisher: Thieme
Release Date : 2017-12-12

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 2017-12-12 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.

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.

Mosby S Atlas Of Functional Human Anatomy

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Author : Ernest W. Beck
language : en
Publisher:
Release Date : 1982

Mosby S Atlas Of Functional Human Anatomy written by Ernest W. Beck and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1982 with Medical categories.

"This atlas is for students and practitioners in many health and life science fields. It makes no pretense of being complete; what is of interest and importance to one specialty may only be of passing curiosity to another, The subject matter of each plate has been carefully considered for its usefulness as standard reference material for the understanding of human anatomym physiological principles, and frequntlyu encountered pathological conditions" (from Preface).

Human Chromosomes

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Author : Eeva Therman
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06

Human Chromosomes written by Eeva Therman 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.

This book, like the two previous editions, was written as an introduction to human cytogenetics, but it could also be used as a text for a general cytogenetics course, since chromosome structure and behavior are similar in all eukaryotes. Many examples in this book are from organisms other than humans, reflecting our combined backgrounds of molecular and bacterial genetics, and plant and animal cytogenetics. In the rapidly expanding field of human cytogenetics, certain subjects, for instance clinical and cancer cytogenetics, are now covered in recently published, thousand-page volumes. In this book, such subjects are presented only in outline. The enormous growth of information has also made the choice of topics and of examples to illustrate them even more arbitrary and subjective than in the previous editions. Apart from a few pages here and there, the text has been rewritten. Major parts, especially those on molecular matters, have been added. This book would not exist without the dedicated participation of Mrs. Barbara Susman. She has been involved in the project from the planning stages to the final proofreading. She has done the extensive literature research, designed most of the tables and illustrations, and edited and typed the text. For discussions and suggestions we are indebted to many colleagues. We wish especially to mention Drs. Lassi Alvesalo, Evelyn M. Kuhn, and Renata Laxova, who have critically read selected parts of the book, and Dr. Carter Denniston, who has read the whole text.

Current Catalog

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Author : National Library of Medicine (U.S.)
language : en
Publisher:
Release Date :

Current Catalog written by National Library of Medicine (U.S.) and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on with Medicine categories.

First multi-year cumulation covers six years: 1965-70.