Benign and Pathological Chromosomal Imbalances Book

Benign and Pathological Chromosomal Imbalances

  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2013-08-31
  • Genre: Science
  • Pages : 220
  • ISBN 10 : 9780124046849

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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 Book

Chromosome 12 Aberrations in Human Solid Tumors

  • Author : Jörn Bullerdiek
  • Publisher : Springer Science & Business Media
  • Release Date : 2013-04-17
  • Genre: Medical
  • Pages : 194
  • ISBN 10 : 9783662062555

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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.

Understanding Genetics Book

Understanding Genetics

  • Author : Genetic Alliance
  • Publisher :
  • Release Date : 2009
  • Genre: Biology
  • Pages : 104
  • ISBN 10 : 9780982162217

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The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Human Cytogenetic Cancer Markers Book

Human Cytogenetic Cancer Markers

  • Author : Sandra R. Wolman
  • Publisher : Springer Science & Business Media
  • Release Date : 2012-12-06
  • Genre: Medical
  • Pages : 485
  • ISBN 10 : 9781461239529

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Seventeen cutting-edge chapters review both basic research and clinical applications of chromosomal markers of cancer. The new markers offer great promise, not only for their clinical utility in diagnosis, prognosis, and disease monitoring, but also for their contributions to a better understanding of the mechanisms of tumor development and progression. The chapters-all written by leading authorities-skillfully reveal fresh insights into the translational role of cytogenetics in identifying the cellular and molecular changes that occur in cancer. Coverage is devoted to many tissue systems-colon, breast, prostate, lung, skin, brain, and kidney-where the diagnostic and prognostic utility of chromosome markers is clearly demonstrated. A seminal book certain to become the front-line reference and authoritative resource needed by all scientists and clinicians engaged in cancer research, diagnosis, and management.

Human Interphase Chromosomes Book

Human Interphase Chromosomes

  • Author : Ivan Iourov
  • Publisher : Springer Nature
  • Release Date : 2021-01-29
  • Genre: Medical
  • Pages : 178
  • ISBN 10 : 9783030625320

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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 Book

Evolution Composition and Regulation of Supernumerary B Chromosomes

  • Author : Andreas Houben
  • Publisher : MDPI
  • Release Date : 2019-04-25
  • Genre: Science
  • Pages : 254
  • ISBN 10 : 9783038977865

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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 Book

Uniparental Disomy UPD in Clinical Genetics

  • Author : Thomas Liehr
  • Publisher : Springer
  • Release Date : 2014-06-26
  • Genre: Medical
  • Pages : 192
  • ISBN 10 : 9783642552885

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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.

Cytogenomics Book


  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2021-05-25
  • Genre: Science
  • Pages : 428
  • ISBN 10 : 9780128235805

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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

Cytogenetics and Molecular Cytogenetics Book

Cytogenetics and Molecular Cytogenetics

  • Author : Thomas Liehr
  • Publisher : CRC Press
  • Release Date : 2022-12-07
  • Genre: Science
  • Pages : 422
  • ISBN 10 : 9781000800401

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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

Enzinger and Weiss s Soft Tissue Tumors E Book Book

Enzinger and Weiss s Soft Tissue Tumors E Book

  • Author : John R. Goldblum
  • Publisher : Elsevier Health Sciences
  • Release Date : 2019-10-18
  • Genre: Medical
  • Pages : 1184
  • ISBN 10 : 9780323610971

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Since its first publication more than 35 years ago, Enzinger and Weiss’s Soft Tissue Tumors has established itself as the most comprehensive and authoritative reference available on soft tissue pathology. The 7th Edition from Drs. John R. Goldblum, Andrew L. Folpe, and Sharon W. Weiss, continues this tradition with detailed, well-written, logically organized coverage of the full spectrum of these often difficult and challenging tumors. It offers clear guidance to practicing and trainee pathologists on diagnosis of tumors by microscopy, immunohistochemistry, and molecular genetics, as well as a significant amount of clinically significant information of interest to the clinicians who most frequently see these diseases – dermatologists, orthopaedists, and oncologists. Offers practical information on differential diagnosis of tumors of the skeletal muscles, connective tissue, fat, and related structures, helping you accurately diagnose and confidently sign out pathology reports on even the most challenging cases. Provides unsurpassed scope and depth in this complex area with microscopic findings correlated with the latest developments in molecular biology, cytogenetics, and immunohistochemistry, for a comprehensive and integrated approach to evaluation and diagnosis. Incorporates new knowledge on recently identified entities, next-generation sequencing (NGS), molecular diagnostic techniques, and immunohistochemical and genetic features of soft tissue tumors, providing up-to-date diagnostic and prognostic information that will inform day-to-day therapeutic decisions. Features nearly 2,000 high-quality images that clearly capture the clinical, macroscopic and microscopic features of benign and malignant conditions, helping you relate these characteristics to their specific classifications. Utilizes a logical, well-structured format including summary outlines at the beginning of each chapter, a color-coded page design, and a consistent approach to every entity, enabli

Systematized Nomenclature of Medicine  Function field Book

Systematized Nomenclature of Medicine Function field

  • Author : College of American Pathologists
  • Publisher : Unknown
  • Release Date : 1976
  • Genre: Medicine
  • Pages : 156
  • ISBN 10 : UOM:39015000282510

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Multidisciplinary (encompasses all medicine) coded nomenclature designed specifically for computer data processing. Organized in hierarchical arrangement according to topography, morphology, etiology, function, disease, and procedure. Each volume also includes alphabetical listings.

Practical Pulmonary Pathology  A Diagnostic Approach E Book Book

Practical Pulmonary Pathology A Diagnostic Approach E Book

  • Author : Maxwell L. Smith
  • Publisher : Elsevier Health Sciences
  • Release Date : 2022-11-22
  • Genre: Medical
  • Pages : 883
  • ISBN 10 : 9780323795487

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Part of the in-depth and practical Pattern Recognition series, Practical Pulmonary Pathology, 4th Edition, helps you arrive at an accurate diagnosis by using a pattern-based approach. Leading diagnosticians in pulmonary pathology offer practical assistance in identifying all major neoplastic and non-neoplastic diseases of the lungs, guiding you from a pathological pattern through the appropriate work-up, around the pitfalls, and to the best diagnosis. More than 1,000 high-quality illustrations capture key morphologic patterns for a full range of common and rare conditions and assist in the interpretation of complex diagnostic puzzles. A unique “visual index at the beginning of the book directs you to the exact chapter and specific page you need for in-depth diagnostic guidance. Helps you quickly recognize the vast variety of appearances of the lung that result from infections, tumors, and tumor-like lesions, both malignant and benign. Discusses advances in molecular diagnostic testing, its capabilities and its limitations, including targeted/personalized medicine. Incorporates clinicopathologic background and relevant data from ancillary techniques (immunohistochemistry, cytogenetics, and molecular genetics), giving you the tools you need to master the latest breakthroughs in diagnostic technology. Covers the latest TNM staging and WHO classification systems, as well as new diagnostic biomarkers and their utility in differential diagnosis, newly described variants, and new histologic entities. Color-codes patterns to specific entities, and summarizes key points in tables, charts, and graphs so you can quickly and easily find what you are looking for. Shares the knowledge and expertise of new co-editor, Dr. Maxwell L. Smith.

Cutaneous Adnexal Neoplasms Book

Cutaneous Adnexal Neoplasms

  • Author : Luis Requena
  • Publisher : Springer
  • Release Date : 2017-12-28
  • Genre: Medical
  • Pages : 1052
  • ISBN 10 : 9783319457048

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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.

Practical Pulmonary Pathology  A Diagnostic Approach E Book Book

Practical Pulmonary Pathology A Diagnostic Approach E Book

  • Author : Kevin O. Leslie
  • Publisher : Elsevier Health Sciences
  • Release Date : 2017-10-27
  • Genre: Medical
  • Pages : 864
  • ISBN 10 : 9780323442886

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Part of the in-depth and practical Pattern Recognition series, Practical Pulmonary Pathology, 3rd Edition, helps you accurately identify and interpret neoplastic and non-neoplastic diseases of the lungs by using a pattern-based approach. Leading diagnosticians in pulmonary pathology guide you from a histological pattern, through the appropriate work-up, around the pitfalls, and to the best diagnosis. Superb, full-color illustrations capture key pathological patterns for a full range of common and rare conditions, and a "visual index" at the beginning of the book directs you to the exact location of in-depth diagnostic guidance. A user-friendly design color-codes patterns to specific entities, and key points are summarized in tables, charts, and graphs so you can quickly and easily find what you are looking for. Sweeping content updates keep you at the forefront of recent findings regarding pulmonary hypertension, pediatric lung disease, and all major neoplastic and non-neoplastic diseases of the lung. A new chapter on Pulmonary Function Testing for Pathologists brings you up to date with relevant aspects of these key tests. Improved pattern call-outs are now linked directly within the chapter, reinforcing the patterns for more efficient and complete understanding.

Dail and Hammar s Pulmonary Pathology Book
Score: 5
From 1 Ratings

Dail and Hammar s Pulmonary Pathology

  • Author : Joseph F. Tomashefski
  • Publisher : Springer Science & Business Media
  • Release Date : 2010-05-17
  • Genre: Medical
  • Pages : 883
  • ISBN 10 : 9780387721149

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Dail and Hammar’s Pulmonary Pathology has established itself as the definitive reference in the field. This third edition is now a two-volume, full color text. The new editorial board has continued to build upon the excellence previously achieved by reorganizing, expanding and substantially revising the text. This authoritative reference work has been updated to cover newly recognized entities and the latest advances in molecular diagnostic techniques. Abundantly illustrated with more than 2000 full color illustrations, this outstanding contribution to pathology literature is a must-have for the library of every surgical and pulmonary pathologist.