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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
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 preparing for the certifying examination in Clinical Cytogenetics offered by the American Board of Medical Genetics (ABMG). Written by nearly 30 distinguished international contributors, Medical Cytogenetics covers the history of the field, tissue culturing and staining techniques, and clinical applications of FISH, as well as other methods for genetic studies and chromosomal analysis supplies numerous examples and case reports examines reproductive dysfunctions such as in-utero abnormalities, male infertility, and failure to conceive investigates chromosomal abnormalities associated with myeloid hematopoietic disorders, lymphoid neoplasms, and solid tumors such as those associated with breast cancer reviews means of obtaining accreditation or licenses, use of external peer reviews and voluntary inspections, proficiency testing, and regulatory oversight and more! Thoroughly referenced with over 1800 bibliographic citations, and supplemented with a useful glossary, a large number of practice questions, and over 40 color photographs, Medical Cytogenetics is a pragmatic, hands-on reference for pathologists, geneticists, cytogenetic technologists, molecular and cell biologists, clinical and medical oncologists, hematologists, neurologists, pediatricians, endocrinologists, obstetricians, gynecologists, and primary care physicians, and an exceptional text for upper-level undergraduate, graduate, and medical students in these disciplines.
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
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.
Author : Steven L. Gersen,Martha B. Keagle Publisher : Springer Science & Business Media Page : 589 pages File Size : 53,6 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.
Author : G. Bradley Schaefer,Thompson Jr. Publisher : McGraw Hill Professional Page : 452 pages File Size : 40,9 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.
Medical Genetics for the Modern Clinician by Judith A. Westman Pdf
Medical Genetics for the Modern Clinician is a concise, clinically oriented introductory genetics text for medical and allied health students, residents, and clinicians. The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing. More than 120 illustrations help students visualize concepts. Each chapter ends with USMLE-style review questions. Appendices include a glossary and a Table of Genes that lists all genes covered in the text by chapter. Faculty resources, case studies, and downloadable full-color images will be available on connection.LWW.com/go/westman.
Landmarks in Medical Genetics by Peter S. Harper Pdf
Because advances in medical genetics over the past 50 years have been so rapid, clinicians and scientists in the field are often unfamiliar with the key research that has led to many developments which are now accepted and familiar. This collection of classic papers has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed. Brief, clearly written commentaries on each paper and section place the work in its current context, serve to unify the different parts of the book, and help make it both readable and authoritative.
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.
Clinical Cytogenetics, An Issue of Clinics in Laboratory Medicine - E-Book by Caroline Astbury Pdf
This issue of Clinics in Laboratory Medicine, Guest Edited by Caroline Astbury, PhD, FACMG, will focus on Cytogenetics, with topics including: Chronic lymphocytic leukemia; Acute lymphocytic leukemia; Acute myelogenous leukemia; Chronic myelogenous leukemia; Plasma cell myeloma; Lymphomas; Solid tumors; Myelodysplastic syndromes; SNP arrays in clinical practice; Prenatal arrays; FISH (including Paraffin-embedded (PET) FISH); New and old microdeletion and microduplication syndromes; Sex chromosome and sex chromosome abnormalities; Autosomal aneuploidy; Microarray-CGH interpretation and Genomic Integrity; Structural chromosome rearrangements and complex chromosome rearrangements; and UPD/imprinting.
Moments of Truth in Genetic Medicine by M. Susan Lindee Pdf
Genetic research increasingly dominates medical thought and practice in the United States and in many other industrialized nations. Susan Lindee's original study explores the institutions, disciplines, and ideas that initiated the reconfiguration of genetic medicine from a marginal field in the mid-1950s to a core research frontier of biomedicine. Tracing the work of geneticists and other experts in identifying and classifying disease during the explosive period between 1950 and 1980, Lindee identifies the individual "moments of truth" that moved the field away from its eugenic past to the center of a new world view in which nearly all disease is understood to be fundamentally genetic. She suggests that these moments of truth were experienced not only by scientists but also by those who had familial, intimate, emotional knowledge of hereditary disease: patients, family members, and research subjects. Focusing on benchmarks in the field—such as the rise of neonatal testing in the 1960s, genetic studies of unique human populations such as the Amish, the development of human cytogenetics and human behavioral genetics, and the efforts to find genes for rare diseases such as familial dysautonomia—she tracks the emergence of a biomedical consensus that nearly all disease is genetic disease. Using the success of this field as a point of entry, Lindee chronicles both the production of knowledge in biomedicine and changes in the cultural meaning of the body in the late twentieth century. She suggests that scientific knowledge is a community project that is shaped directly by people in many different social and professional locations. The power to experience and report scientific truth may be much more dispersed than it sometimes appears, because people know things about their own bodies, and their knowledge has often been incorporated into the technical infrastructure of genomic medicine. Lindee's pathbreaking study shows the interdependence of technical and social parameters in contemporary biomedicine.
Chromosome Abnormalities and Genetic Counseling by R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer Pdf
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Cytogenetics and Molecular Cytogenetics by Thomas Liehr Pdf
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
Medical genetics 1 by John Kaisermann,Milos Pawlowski,Yavor Mendel Pdf
Medical genetics encompasses many different areas, including the clinical practice of doctors, genetic counselors and nutritionists, clinical diagnostic laboratory activities and research on the causes and inheritance of genetic disorders. Examples of conditions that are within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens and prenatal diagnosis. Medical genetics is becoming increasingly relevant for many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurological, endocrine, cardiovascular, pulmonary, ophthalmological, renal, psychiatric and dermatological diseases. Summary of the contents of this book: Genetic disorders: Classification Chromosomal disorders Mitochondrial diseases: Mitochondrial genetics Proteopathy The human genome and the chromosomal base of inheritance Cancer cytogenetics The human genome and its chromosomes DNA structure: a brief summary Organization of human chromosomes Cell division The human karyotype Human gametogenesis and fertilization Importance and medical significance of Mitosis and Meiosis Structure and function of the human genome Genome Keys