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Author : Peining Li
Publisher : Springer Nature
ISBN 13 : 3031475305
Total Pages : 520 pages
Book Rating : 4.0/5 (314 download)
Download or read book Human Ring Chromosomes written by Peining Li and published by Springer Nature. This book was released on with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Peining Li
Publisher : Springer
ISBN 13 : 9783031475290
Total Pages : 0 pages
Book Rating : 4.4/5 (752 download)
Download or read book Human Ring Chromosomes written by Peining Li and published by Springer. This book was released on 2024-04-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic. Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reported in the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs. Furthermore, supernumerary small ring chromosomes and the patient’s perspective are addressed—the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing. This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields.
Author : Claudia Behrend
Publisher : Springer Nature
ISBN 13 : 3031105885
Total Pages : 385 pages
Book Rating : 4.0/5 (311 download)
Download or read book Human Chromosome Atlas written by Claudia Behrend and published by Springer Nature. This book was released on 2023-02-27 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Eeva Therman
Publisher : Springer Science & Business Media
ISBN 13 : 1468401076
Total Pages : 247 pages
Book Rating : 4.4/5 (684 download)
Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.
Author : Audrey Bishop
Publisher : Butterworth-Heinemann
ISBN 13 : 1483282546
Total Pages : 65 pages
Book Rating : 4.4/5 (832 download)
Download or read book Human Chromosomes written by Audrey Bishop and published by Butterworth-Heinemann. This book was released on 2014-05-12 with total page 65 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Chromosomes: An Illustrated Introduction to Human Cytogenetics focuses on the processes, methodologies, and approaches involved in the study of human chromosomes. The publication first offers information on the cell and its activity, particularly noting that the cell is the basic unit that forms the organs and tissues of the human body. The differentiation of cells and the process of cell division are discussed. The text then focuses on the culture of human cells for the investigation of the chromosomes. The book elaborates on the identification of human chromosomes, including further methods of identification and the use of radioactive isotopes. The publication also ponders on the numerical changes in the karyotype, structural changes, and X chromosomes. Discussions focus on the processes of mitosis and meiosis, translocation, deletion, duplication, and ring formation, and the behavior, transformation, and characteristics of X chromosome. The text is a valuable reference for researchers interested in the study of human chromosomes.
Author : Eeva Therman
Publisher : Springer Science & Business Media
ISBN 13 : 1468405292
Total Pages : 392 pages
Book Rating : 4.4/5 (684 download)
Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : John L. Hamerton
Publisher : Academic Press
ISBN 13 : 1483266958
Total Pages : 564 pages
Book Rating : 4.4/5 (832 download)
Download or read book Human Cytogenetics written by John L. Hamerton and published by Academic Press. This book was released on 2013-10-22 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.
Author : Daniel Bergsma
Publisher :
ISBN 13 :
Total Pages : 28 pages
Book Rating : 4.3/5 (91 download)
Download or read book Chicago Conference written by Daniel Bergsma and published by . This book was released on 1966 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Standing Committee on Human Cytogenetic Nomenclature
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 9783805562263
Total Pages : 126 pages
Book Rating : 4.5/5 (622 download)
Download or read book ISCN 1995 written by Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 1995-01-01 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication combines and extends the now classic system of human cytogenetic nomenclature that has been prepared by expert committees and published in, or in collaboration with, Cytogenetics and Cell Genetics since 1963. The current ISCN committee and its advisors finalized the report at a meeting in Memphis, Tennessee in October 1994. It updates, corrects and combines all previous human cytogenetic nomenclature recommendations into one systematically organized publication. ISCN 1995 includes, supersedes, and reorganizes the previous compilation in ISCN 1985 and its supplement, ISCN 1991, the Guidelines for Cancer Cytogenetics. Also, some minor inconsistencies of the previous compilations are corrected and clarified.
Author : Charles C. Tseng
Publisher : Springer Science & Business Media
ISBN 13 : 1461460832
Total Pages : 264 pages
Book Rating : 4.4/5 (614 download)
Download or read book Learning Basic Genetics with Interactive Computer Programs written by Charles C. Tseng and published by Springer Science & Business Media. This book was released on 2014-07-08 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Traditionally, genetics laboratory exercises at the university level focus on mono- and dihybrid crosses and phenotypic analysis—exercises under traditional time, materials, and process constraints. Lately, molecular techniques such as gene cloning, polymerase chain reactions (PCR), and bioinformatics are being included in many teaching laboratories—where affordable. Human chromosome analysis, when present at all, has often been restricted to simple identification of chromosomes by number, through the usual “cut-and-paste” method. Although several online karyotyping (chromosome identification) programs have become available, they are not meaningful for studying the dynamics of the chromosome system, nor do they help students understand genetics as a discipline. The software that accompanies this book has been shown to be an ideal tool for learning about genetics, which requires a combination of understanding, conceptualization, and practical experience.
Author : Digamber S. Borgaonkar
Publisher : John Wiley & Sons
ISBN 13 : 9780471833369
Total Pages : 0 pages
Book Rating : 4.8/5 (333 download)
Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by John Wiley & Sons. This book was released on 1984 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Jean de Grouchy
Publisher : John Wiley & Sons
ISBN 13 :
Total Pages : 360 pages
Book Rating : 4.3/5 (91 download)
Download or read book Clinical Atlas of Human Chromosomes written by Jean de Grouchy and published by John Wiley & Sons. This book was released on 1977 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 316 pages
Book Rating : 4.1/5 (282 download)
Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Author : Sajirō Makino
Publisher : Elsevier Science & Technology
ISBN 13 :
Total Pages : 628 pages
Book Rating : 4.:/5 (43 download)
Download or read book Human Chromosomes written by Sajirō Makino and published by Elsevier Science & Technology. This book was released on 1975 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Marilyn S. Arsham
Publisher : John Wiley & Sons
ISBN 13 : 1119061229
Total Pages : 1216 pages
Book Rating : 4.1/5 (19 download)
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.
Author : Orlando J. Miller
Publisher : Springer Science & Business Media
ISBN 13 : 1461301394
Total Pages : 508 pages
Book Rating : 4.4/5 (613 download)
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.
Author : Bruce Alberts
Publisher :
ISBN 13 : 9780815332183
Total Pages : 0 pages
Book Rating : 4.3/5 (321 download)
Download or read book Molecular Biology of The Cell written by Bruce Alberts and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
