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Clinical Genetics
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Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2006 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.
Book Synopsis New Clinical Genetics, fourth edition by : Andrew Read
Download or read book New Clinical Genetics, fourth edition written by Andrew Read and published by Scion Publishing Ltd. This book was released on 2020-10-23 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt: New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem
Book Synopsis Clinical Genetics by : Golder Wilson
Download or read book Clinical Genetics written by Golder Wilson and published by Wiley-Liss. This book was released on 2000 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the advent of genetic engineering and mapping of the human genome, public awareness concerning the contributions that genetic disorders make to illness or death has increased significantly. The fields of human and medical genetics have continued to expand and offer new ways of understanding, preventing, and managing patients with genetic disorders. At the core of the genetic approach are the ideas of anticipation and prevention, which are essential for modern medical practice. Clinical Genetics: A Short Course explains the importance of being able to anticipate disease based on individual characteristics or a family history, and then providing the necessary measures to forestall further complications. Each informative chapter commences with a case presentation and an explanation of medical terms. As the book progresses and new concepts are introduced, each case is updated. Clinical Genetics clarifies that, although individual genetic disease may be rare, it is an inescapable part of medicine. Text contains: * Both basic principles and differential diagnosis and management * Case-oriented problems, including answers and solutions * Over 300 illustrations to clarify clinical cases * Actual patient material * Glossary of genetic and medical terminology Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals.
Book Synopsis Oxford Desk Reference by : Helen V. Firth
Download or read book Oxford Desk Reference written by Helen V. Firth and published by Oxford University Press, USA. This book was released on 2005 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt: Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar
Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Book Synopsis Clinical Ophthalmic Genetics and Genomics by : Graeme C.M. Black
Download or read book Clinical Ophthalmic Genetics and Genomics written by Graeme C.M. Black and published by Elsevier. This book was released on 2022-01-20 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader
Book Synopsis Medical Genetics at a Glance by : Dorian J. Pritchard
Download or read book Medical Genetics at a Glance written by Dorian J. Pritchard and published by John Wiley & Sons. This book was released on 2013-09-23 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.
Book Synopsis Medical Genetics by : G. Bradley Schaefer
Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Understanding Genetics by : Genetic Alliance
Download or read book Understanding Genetics written by Genetic Alliance and published by Lulu.com. This book was released on 2009 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Medical Genetics in Pediatric Practice by : American Academy of Pediatrics
Download or read book Medical Genetics in Pediatric Practice written by American Academy of Pediatrics and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more
Book Synopsis Medical Genetics for the Modern Clinician by : Judith A. Westman
Download or read book Medical Genetics for the Modern Clinician written by Judith A. Westman and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author :Christine E. Kasper, PhD, RN, FAAN, FACSM Publisher :Springer Publishing Company ISBN 13 :0826129137 Total Pages :425 pages Book Rating :4.8/5 (261 download)
Book Synopsis Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition by : Christine E. Kasper, PhD, RN, FAAN, FACSM
Download or read book Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition written by Christine E. Kasper, PhD, RN, FAAN, FACSM and published by Springer Publishing Company. This book was released on 2015-09-16 with total page 425 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students
Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz
Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Genomics and Clinical Medicine by : Dhavendra Kumar
Download or read book Genomics and Clinical Medicine written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2008-02-15 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
Book Synopsis New Clinical Genetics by : Andrew P. Read
Download or read book New Clinical Genetics written by Andrew P. Read and published by Scion Publishing. This book was released on 2007 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: "New Clinical Genetics" provides all those involved in medical genetics with a unique clinical guide based on post-genomic technologies. This first edition has been superseded by a new edition, launched October 2010.
Book Synopsis Clinical Genetics and Genomics of Aging by : Juan Carlos Gomez-Verjan
Download or read book Clinical Genetics and Genomics of Aging written by Juan Carlos Gomez-Verjan and published by Springer. This book was released on 2021-04-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The world population is rapidly aging—it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.
Book Synopsis Clinical Cardiogenetics by : H.F. Baars
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
