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The Principles of Clinical Cytogenetics by Steven Gersen,Martha B. Keagle Pdf
This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
The Principles of Clinical Cytogenetics by Steven L. Gersen,Martha B. Keagle Pdf
Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.
Author : Steven L. Gersen,Martha B. Keagle Publisher : Springer Science & Business Media Page : 589 pages File Size : 54,5 Mb Release : 2008-08-17 Category : Medical ISBN : 9781592598335
The Principles of Clinical Cytogenetics by Steven L. Gersen,Martha B. Keagle Pdf
In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday’s news, were once again “back in style. ” Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.
Marilyn S. Arsham,Margaret J. Barch,Helen J. Lawce
Author : Marilyn S. Arsham,Margaret J. Barch,Helen J. Lawce Publisher : John Wiley & Sons Page : 1216 pages File Size : 40,9 Mb Release : 2017-04-24 Category : Science ISBN : 9781119061229
The AGT Cytogenetics Laboratory Manual by Marilyn S. Arsham,Margaret J. Barch,Helen J. Lawce Pdf
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.
The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists prepar
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 : G. Bradley Schaefer,Thompson Jr. Publisher : McGraw Hill Professional Page : 452 pages File Size : 46,5 Mb Release : 2013-11-22 Category : Medical ISBN : 9780071819282
Medical Genetics by G. Bradley Schaefer,Thompson Jr. Pdf
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
Molecular Genetic Pathology by Liang Cheng,David Y. Zhang,John N. Eble Pdf
Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by R.J. McKinlay Gardner,David Amor Pdf
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Perinatal Genetics by Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff Pdf
Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.
Understanding Genetics by Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services Pdf
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.
Diagnostic Techniques in Hematological Malignancies by Wendy N. Erber Pdf
The diagnosis and monitoring of hematological malignancies is complex and requires a systematic approach. Morphology, cell phenotyping, cytogenetics and molecular genetics are essential, and the results must be integrated. Diagnostic Techniques in Hematological Malignancies details the principles and applications of each of these test types in the diagnosis of hematological malignancies in blood and bone marrow. The first section describes the test modalities – including methodological principles, data interpretation and limitations – and is illustrated by clinical examples. The second section focuses on the clinical entities, detailing the most appropriate tests for diagnosis, staging and monitoring of different hematological malignancies and includes test utilization to identify prognostic markers and potential therapeutic targets. With contributions from multiple international experts, this illustrated book is an essential resource for qualified and trainee hematologists, oncologists, and pathologists. It's a practical and useful guide, providing a rational and structured approach to the laboratory assessment of hematological malignancies.
