Benign And Pathological Chromosomal Imbalances

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Benign and Pathological Chromosomal Imbalances

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0124046843
Total Pages : 227 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Benign and Pathological Chromosomal Imbalances by : Thomas Liehr

Download or read book Benign and Pathological Chromosomal Imbalances written by Thomas Liehr and published by Academic Press. This book was released on 2013-08-31 with total page 227 pages. Available in PDF, EPUB and Kindle. Book excerpt: Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

Chromosome 12 Aberrations in Human Solid Tumors

Author : Jörn Bullerdiek
Publisher : Springer Science & Business Media
ISBN 13 : 3662062550
Total Pages : 201 pages
Book Rating : 4.6/5 (62 download)

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Book Synopsis Chromosome 12 Aberrations in Human Solid Tumors by : Jörn Bullerdiek

Download or read book Chromosome 12 Aberrations in Human Solid Tumors written by Jörn Bullerdiek and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Researchers involved in the cytogenetics and molecular genetics of human tumors will welcome this comprehensive overview of the type of aberrations that chromosome 12 presents in human solid tumors. The authors study the implications for a cytogenetic subtyping of the tumors involved and strategies for identifying the molecular changes which underlie the karyotypic alterations. The aberrations of chromosome 12 which the book deals with are very frequent chromosomal alterations in human tumors occuring in frequent benign mesenchymal tumors, such as uterine leiomyomas and lipomas, and in tumors of epithelial origin, such as pleomorphic adenomas of the salivary glands.

Abnormal Chromosomes

Author : Sverre Heim
Publisher : John Wiley & Sons
ISBN 13 : 1119651980
Total Pages : 211 pages
Book Rating : 4.1/5 (196 download)

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Book Synopsis Abnormal Chromosomes by : Sverre Heim

Download or read book Abnormal Chromosomes written by Sverre Heim and published by John Wiley & Sons. This book was released on 2022-03-21 with total page 211 pages. Available in PDF, EPUB and Kindle. Book excerpt: Explore the past, present, and future of cancer cytogenetics In Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics, globally renowned researchers Drs. Sverre Heim and Felix Mitelman deliver a state-of-the-art review of how cancer cytogenetic analyses have contributed to an improved understanding of tumorigenesis as well as to the diagnosis and treatment of cancer patients. The book also discusses how cytogenetics – the study of chromosomes - meets, interacts with, and cross-fertilizes other investigative technologies, including molecular somatic cell genetics. The book provides an impetus to think more deeply about the role chromosomes, and their abnormalities, play in health and disease, especially in neoplastic disorders. From which origins did cytogenetics develop? How did the finding of acquired chromosomal abnormalities in cells of leukemias and solid tumors influence our understanding of cancer as a biological process? How was information of this nature put to good use in the clinical management of cancer patients? Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics offers readers: A thorough introduction to ancient theories of disease, the advent of cellular pathology, and how a scientific interest in chromosomes developed Comprehensive exploration of the conceptual importance of Theodor Boveri and his somatic mutation theory of cancer A detailed chronological resume of cancer cytogenetic discoveries during the 20th century In-depth discussions of the role of chromosome abnormalities, oncogenes, and tumor suppressor genes in leukemias, lymphomas, and solid tumors, together with a survey of what chromosome analyses have revealed about the clonal evolution of neoplastic cell populations A discussion of the importance of pathogenetic classifications of neoplastic diseases, the role chromosome abnormalities play in this context, and which technological breakthroughs can be expected in chromosome-oriented cancer research Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics was written for everyone with a scientific or clinical interest in cancer, especially how acquired chromosome abnormalities lead to neoplastic transformation. The book teaches how cytogenetic analyses contribute to a better understanding of tumorigenesis, but also how the finding of specific chromosome aberrations can be crucial for the diagnosis, prognosis, and management of cancer patients.

Chromosomal Abnormalities

Author : Tulay Askin Celik
Publisher : BoD – Books on Demand
ISBN 13 : 1789859794
Total Pages : 168 pages
Book Rating : 4.7/5 (898 download)

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Book Synopsis Chromosomal Abnormalities by : Tulay Askin Celik

Download or read book Chromosomal Abnormalities written by Tulay Askin Celik and published by BoD – Books on Demand. This book was released on 2020-11-11 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomes are vital components of genetic material, and, as such, distruption or changes to the structure of chromosomes can result in different health problems and deficits. This book explains chromosomal abnomalities and their effects on living organisms, including humans and plants. Classical and molecular cytogenetics techniques have a considerable number of potential applications, especially in clinical trials and biomedical diagnosis, making them a strong and insightful complement to other molecular and genomic approaches. Chapters cover topics including Down syndrome, fetal ultrasounds, acute myeloid leukemia, and Phelan-McDermid syndrome, among others.

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 Interphase Chromosomes

Author : Ivan Iourov
Publisher : Springer Nature
ISBN 13 : 303062532X
Total Pages : 184 pages
Book Rating : 4.0/5 (36 download)

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Book Synopsis Human Interphase Chromosomes by : Ivan Iourov

Download or read book Human Interphase Chromosomes written by Ivan Iourov and published by Springer Nature. This book was released on 2021-01-29 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.

Evolution, Composition and Regulation of Supernumerary B Chromosomes

Author : Andreas Houben
Publisher : MDPI
ISBN 13 : 3038977861
Total Pages : 254 pages
Book Rating : 4.0/5 (389 download)

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Book Synopsis Evolution, Composition and Regulation of Supernumerary B Chromosomes by : Andreas Houben

Download or read book Evolution, Composition and Regulation of Supernumerary B Chromosomes written by Andreas Houben and published by MDPI. This book was released on 2019-04-25 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi. Since their discovery more than a century ago, they have been a source of puzzlement, as they only occur in some members of a population and are absent from others. When they do occur, they are often harmful, and in the absence of “selfishness”, based on mechanisms of mitotic and meiotic drive, there appears to be no obvious reason for their existence. Cytogeneticists have long wrestled with questions about the biological existence of these enigmatic elements, including their lack of any adaptive properties, apparent absence of functional genes, their origin, sequence organization, and co-evolution as nuclear parasites. Emerging new technologies are now enabling researchers to step up a gear, to look enthusiastically beyond the previous limits of the horizon, and to uncover the secrets of these “silent” chromosomes. This book provides a comprehensive guide to theoretical advancements in the field of B chromosome research in both animal and plant systems.

Uniparental Disomy (UPD) in Clinical Genetics

Author : Thomas Liehr
Publisher : Springer
ISBN 13 : 3642552889
Total Pages : 201 pages
Book Rating : 4.6/5 (425 download)

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Book Synopsis Uniparental Disomy (UPD) in Clinical Genetics by : Thomas Liehr

Download or read book Uniparental Disomy (UPD) in Clinical Genetics written by Thomas Liehr and published by Springer. This book was released on 2014-06-26 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Placental and Gestational Pathology with Online Resource

Author : Raymond W. Redline
Publisher : Cambridge University Press
ISBN 13 : 1316632539
Total Pages : 367 pages
Book Rating : 4.3/5 (166 download)

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Book Synopsis Placental and Gestational Pathology with Online Resource by : Raymond W. Redline

Download or read book Placental and Gestational Pathology with Online Resource written by Raymond W. Redline and published by Cambridge University Press. This book was released on 2018-08-23 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.

Cytogenomics

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Cytogenomics by : Thomas Liehr

Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

Textbook of Human Reproductive Genetics

Author : Karen Sermon
Publisher : Cambridge University Press
ISBN 13 : 1107683580
Total Pages : 217 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis Textbook of Human Reproductive Genetics by : Karen Sermon

Download or read book Textbook of Human Reproductive Genetics written by Karen Sermon and published by Cambridge University Press. This book was released on 2014-04-10 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.

Cytogenetics and Molecular Cytogenetics

Author : Thomas Liehr
Publisher : CRC Press
ISBN 13 : 1000800407
Total Pages : 422 pages
Book Rating : 4.0/5 (8 download)

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Book Synopsis Cytogenetics and Molecular Cytogenetics by : Thomas Liehr

Download or read book Cytogenetics and Molecular Cytogenetics written by Thomas Liehr and published by CRC Press. This book was released on 2022-12-07 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides clear summaries of fluorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians

Systemic Sclerosis - Recent Advances and New Perspectives

Author : Katja Perdan Pirkmajer
Publisher : BoD – Books on Demand
ISBN 13 : 1837696705
Total Pages : 132 pages
Book Rating : 4.8/5 (376 download)

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Book Synopsis Systemic Sclerosis - Recent Advances and New Perspectives by : Katja Perdan Pirkmajer

Download or read book Systemic Sclerosis - Recent Advances and New Perspectives written by Katja Perdan Pirkmajer and published by BoD – Books on Demand. This book was released on 2024-05-15 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Systemic sclerosis (SSc) is a multisystem autoimmune disease involving vasculopathy and immune activation that leads to the deposition of extracellular matrix and the development of fibrosis, resulting in cardinal clinical problems. Systemic Sclerosis - Recent Advances and New Perspectives provides a comprehensive overview of the pathophysiology, diagnosis, and specific management of the clinical manifestations of SSc. The book addresses the current understanding of the causes and consequences of inflammatory activation, chromosomal instability, and activating factors. Special emphasis is placed on diagnosis, from the recognition of very early systemic sclerosis and consideration of its treatment to diagnostic methods for microvascular and pulmonary involvement. It also highlights the less life-threatening but very common manifestations of bone and skeletal muscle involvement, which affect patient quality of life.

Cutaneous Adnexal Neoplasms

Author : Luis Requena
Publisher : Springer
ISBN 13 : 3319457047
Total Pages : 1052 pages
Book Rating : 4.3/5 (194 download)

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Book Synopsis Cutaneous Adnexal Neoplasms by : Luis Requena

Download or read book Cutaneous Adnexal Neoplasms written by Luis Requena and published by Springer. This book was released on 2017-12-28 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: This superbly illustrated book is the most comprehensive available guide to adnexal neoplasms of the skin. More than 70 entities are described in individual chapters that follow a uniform structure: historical review, clinical features, histopathology, histogenesis, immunohistochemistry, molecular anomalies, and treatment. Readers will find state of the art knowledge on all aspects, including the cytogenetic and chromosomal abnormalities associated with each neoplasm. Without exception, the illustrations are high-quality, full-color, original digital pictures. The histopathology images are taken from perfectly cut and stained sections and the immunohistochemistry illustrations are of an unrivalled quality among textbooks of dermatology and dermatopathology. A complete list of references from original description to the present day is also supplied for each neoplasm. Cutaneous adnexal neoplasms are a large and heterogeneous group of benign and malignant lesions. This book will assist the reader in early and correct recognition, which is essential for appropriate choice of treatment and prognostic assessment.

Essentials of Surgical Pediatric Pathology

Author : Marta C. Cohen
Publisher : Cambridge University Press
ISBN 13 : 1316124150
Total Pages : 1225 pages
Book Rating : 4.3/5 (161 download)

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Book Synopsis Essentials of Surgical Pediatric Pathology by : Marta C. Cohen

Download or read book Essentials of Surgical Pediatric Pathology written by Marta C. Cohen and published by Cambridge University Press. This book was released on 2015-02-05 with total page 1225 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essentials of Surgical Pediatric Pathology is a clear and practical yet comprehensive guide for trainee pediatric pathologists and non-pediatric pathologists. Each chapter corresponds to one of the main subspecialties, such as dermatopathology, head and neck pathology, and system pathology. Practical guidance is given on handling pediatric specimens and the authors highlight the ways in which common conditions present differently in adults and children. Other chapters cover conditions typical of childhood, including soft tissue tumors and blue round cell tumors. The chapters begin with a brief clinical presentation, followed by a clear macroscopical and histological description of the principal pathologies seen in children. Up-to-date genetic and immunohistochemical information is provided, and the book includes hundreds of high-quality color images. Written and edited by leading international experts in the field, this is an essential resource for trainee pediatric pathologists, as well as general pathologists who may encounter pediatric cases.

Comparative Oncology

Author : Alecsandru Ioan Baba
Publisher :
ISBN 13 : 9789732714577
Total Pages : 787 pages
Book Rating : 4.7/5 (145 download)

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Book Synopsis Comparative Oncology by : Alecsandru Ioan Baba

Download or read book Comparative Oncology written by Alecsandru Ioan Baba and published by . This book was released on 2007 with total page 787 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pediatric Head and Neck Pathology

Author : Robert O. Greer
Publisher : Cambridge University Press
ISBN 13 : 1316613992
Total Pages : 607 pages
Book Rating : 4.3/5 (166 download)

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Book Synopsis Pediatric Head and Neck Pathology by : Robert O. Greer

Download or read book Pediatric Head and Neck Pathology written by Robert O. Greer and published by Cambridge University Press. This book was released on 2017-07-06 with total page 607 pages. Available in PDF, EPUB and Kindle. Book excerpt: A reference for tackling diagnostic dilemmas that pathologists and clinicians encounter when assessing pediatric head and neck disease.