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| medical genetics jorde: Medical Genetics Lynn B. Jorde, John C. Carey, Michael J. Bamshad, Raymond L. White, 2003 This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more! |
| medical genetics jorde: Medical Genetics Lynn B. Jorde, PhD, John C. Carey, MD, MPH, Michael J. Bamshad, MD, 2015-09-04 Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Includes access to the complete text and images online at studentconsult.com along with 200 additional USMLE-style questions for self-assessment. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Student Consult eBook version included with purchase. This enhanced eBook experience allows access to 200 additional USMLE questions, as well as new materials (outlined above) designed to produce a more rounded learning experience. |
| medical genetics jorde: Medical Genetics E-Book Lynn B. Jorde, John C. Carey, Michael J. Bamshad, 2019-09-27 Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material. - Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. - Offers a completely updated discussion of genetic testing modalities and applications. - Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. - Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. - Illustrates key concepts with disease examples to demonstrate relevance to medicine. - Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices. |
| medical genetics jorde: Medical Genetics at a Glance Dorian J. Pritchard, Bruce R. Korf, 2013-09-23 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. |
| medical genetics jorde: Medical Genetics Lynn B. Jorde, 2000 Spanish version also available, ISBN: 84-8174-423-9 |
| medical genetics jorde: Medical Genetics Ian D Young, 2010-09-02 Medical Genetics provides medical and biomedical students with an understanding of the basic principles of human genetics as they relate to clinical practice, showing how our genome lies at the heart of our health and well-being. |
| medical genetics jorde: Emery's Elements of Medical Genetics Robert F. Mueller, Ian D. Young, Alan E. H. Emery, 2001 Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject. |
| medical genetics jorde: Medical Genetics G. Bradley Schaefer, James N. Thompson, 2013-11-22 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 jorde: Psychiatric Genetics and Genomics Peter McGuffin, Michael J Owen, Irving I Gottesman, 2004-09-23 Geneticists and will be essential reading for psychiatrists and geneticists and will be of interest to neurologists, psychologists and neuroscientists. |
| medical genetics jorde: Essentials of Medical Genetics for Health Professionals Laura M. Gunder McClary, Gunder, Scott A. Martin, 2010-09-17 Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank. |
| medical genetics jorde: Genomics and Health in the Developing World Dhavendra Kumar, 2012-05-11 Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world. |
| medical genetics jorde: Genetics in Medicine James Scott Thompson, Margaret Wilson Thompson, 1973 |
| medical genetics jorde: Smith's Patient Centered Interviewing: An Evidence-Based Method, Third Edition Auguste H. Fortin, Francesca C. Dwamena, Richard M. Frankel, Robert C Smith, 2012-05-11 A comprehensive, evidence-based introduction to the principles and practices of patient communication in a clinical setting Endorsed by the American Academy on Communication for Healthcare Updated and expanded by a multidisciplinary team of medical experts, Smith’s Patient-Centered Interviewing, Third Edition presents a step-by-step methodology for mastering every aspect of the medical interview. You will learn how to confidently obtain from patients accurate biomedical facts, as well as critical personal, social, and emotional information, allowing you to make precise diagnoses, develop effective treatment plans, and forge strong clinician-patient relationships. The most evidence-based guide available on this topic, Smith’s Patient-Centered Interviewing applies the proven 5-Step approach, which integrates patient- and clinician-centered skills to improve effectiveness without adding extra time to the interview’s duration. Smith’s Patient-Centered Interviewing covers everything from patient-centered and clinician-centered interviewing skills, such as: Patient education Motivating for behavior change Breaking bad news Managing different personality styles Increasing personal awareness in mindful practice Nonverbal communication Using computers in the exam room Reporting and presenting evaluations Companion video and teaching supplement are available online. Read details inside the book. |
| medical genetics jorde: Osteopathic Techniques Sharon Gustowski, Maria Gentry, Ryan Seals, 2017-05-10 The resources in this book are a good blend and represent a useful resource for osteopathy practitioners and students learning and enhancing their skills. -- Physical Therapy in Sport FIVE STARS from Doody's Star Ratings™ ...a masterful book that clearly delineates the philosophy and the skills that comprise osteopathic manipulative medicine. -- Doody's Book Review (Score: 97) A robust multimedia tool for learning osteopathic manipulative techniques This step-by-step instruction manual with videos introduces a spectrum of osteopathic manipulative techniques incorporating principles of psychomotor learning that enable optimal skill acquisition during both independent and supervised practice. Introductory chapters contain historical and essential concepts for performing osteopathic manipulative techniques including somatic dysfunction diagnosis. Each technique chapter includes pertinent background and summary concepts, key features of somatic dysfunction diagnosis, an end-goal focus for performing the technique, relevant anatomic image(s), and performance steps to foster knowledge retention. Key Highlights Online access to 160 technique video demonstrations High quality illustrations that reinforce anatomy Psychomotor skills learning and assessment strategies Nearly 100 self-study/review questions in multiple choice format, also accessible online This evidence-based manual for learning manipulation treatment is the must-have tool for all osteopathic medical students and residents. |
| medical genetics jorde: Essential Medical Genetics Michael Connor, Malcolm Ferguson-Smith, 1997-04-29 Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics. |
| medical genetics jorde: Thompson & Thompson Genetics in Medicine Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard, 2015-08-16 Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. |
| medical genetics jorde: Genetic Variation and Its Maintenance Derek Frank Roberts, G. F. De Stefano, 1986-10-30 This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists. |
| medical genetics jorde: Marks' Basic Medical Biochemistry Michael A. Lieberman, Alisa Peet, 2022-01-13 Marks’ Basic Medical Biochemistry: A Clinical Approach, 6th Edition links biochemistry to physiology and pathophysiology, empowering students to confidently apply fundamental concepts to the practice of medicine — from diagnosing patients to recommending effective treatments. This proven, application-centered approach builds biochemical coverage around related clinical concepts to anchor students’ understanding to a clinical context from day one. Intuitively organized chapters center on hypothetical patient vignettes to emphasize clinical applications, and helpful icons, images, and review questions make complex concepts easier to grasp. |
| medical genetics jorde: Tietz Textbook of Laboratory Medicine - E-Book Nader Rifai, 2022-02-03 Use THE definitive reference for laboratory medicine and clinical pathology! Tietz Textbook of Laboratory Medicine, 7th Edition provides the guidance necessary to select, perform, and evaluate the results of new and established laboratory tests. Comprehensive coverage includes the latest advances in topics such as clinical chemistry, genetic metabolic disorders, molecular diagnostics, hematology and coagulation, clinical microbiology, transfusion medicine, and clinical immunology. From a team of expert contributors led by Nader Rifai, this reference includes access to wide-ranging online resources on Expert Consult — featuring the comprehensive product with fully searchable text, regular content updates, animations, podcasts, over 1300 clinical case studies, lecture series, and more. - Authoritative, current content helps you perform tests in a cost-effective, timely, and efficient manner; provides expertise in managing clinical laboratory needs; and shows how to be responsive to an ever-changing environment. - Current guidelines help you select, perform, and evaluate the results of new and established laboratory tests. - Expert, internationally recognized chapter authors present guidelines representing different practices and points of view. - Analytical criteria focus on the medical usefulness of laboratory procedures. - Use of standard and international units of measure makes this text appropriate for any user, anywhere in the world. - Elsevier eBooks+ provides the entire text as a fully searchable eBook, and includes animations, podcasts, more than 1300 clinical case studies, over 2500 multiple-choice questions, a lecture series, and more, all included with print purchase. - NEW! 19 additional chapters highlight various specialties throughout laboratory medicine. - NEW! Updated, peer-reviewed content provides the most current information possible. - NEW! The largest-ever compilation of clinical cases in laboratory medicine is included with print purchase on Elsevier eBooks+. - NEW! Over 100 adaptive learning courses included with print purchase on Elsevier eBooks+ offer the opportunity for personalized education. |
| medical genetics jorde: Genetics Leland Hartwell, 2004 This new edition builds upon the integration of Mendelian and molecular principles, providing students with the links between early genetics understanding and the new molecular discoveries that have changed the way the field of genetics is viewed. |
| medical genetics jorde: Human Genetics and Genomics Bruce R. Korf, Mira B. Irons, 2012-11-19 This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline. |
| medical genetics jorde: Genetic: A Conceptual Approach Benjamin A. Pierce, 2013-12-27 With Genetics: A Conceptual Approach, Ben Pierce brings a master teacher’s experiences to the introductory genetics textbook, clarifying this complex subject by focusing on the big picture of genetics concepts and how those concepts connect to one another. |
| medical genetics jorde: Heritable Human Genome Editing The Royal Society, National Academy of Sciences, National Academy of Medicine, International Commission on the Clinical Use of Human Germline Genome Editing, 2021-01-16 Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight. |
| medical genetics jorde: Genetics and Genomics in Nursing and Health Care Theresa A Beery, M Linda Workman, Julia A Eggert, 2018-01-08 Complex concepts made manageable! Build the foundation you need to understand the science of genetics and its growing role in the diagnosis and treatment of diseases and disorders. Confidently tackle the basics of genetic inheritance, the influence of somatic and germline mutations, the multifactorial relationship of gene-environment interactions, and the foundation of ethical behavior. Everyday language makes these often-intimidating topics easy to understand, while clearly defined principles, logical explanations, illustrations, tables, and clinical examples ensure you master the material. |
| medical genetics jorde: Marks' Basic Medical Biochemistry, International Edition Michael Lieberman, Alisa Peet, 2017-07-17 |
| medical genetics jorde: Genetics and Genomics in Medicine T. Strachan, 2015 |
| medical genetics jorde: Eight Fingers and Eight Toes Debbie Jorde, 2010 The incredibly moving, unforgettable story of Debbie Jorde, a mother of two children born with a rare, physically disabling disorder called Miller Syndrome that affects only thirty people worldwide. |
| medical genetics jorde: Netter's Advanced Head & Neck Flash Cards Updated Edition E-Book Neil S. Norton, 2014-04-14 With its many complex structures, the anatomy of the head and neck is one of the most challenging areas of human anatomy to study and master. These 248 flash cards are the perfect streamlined review to help you learn head and neck anatomy as well as common diseases and disorders of this region easily, efficiently, and at your own rate of study. Netter's Advanced Head and Neck Anatomy Flash Cards is your perfect quick resource for a fast and fun review at any stage of your healthcare career. Test and teach yourself at your own pace. Learn visually using many of Netter's famous anatomy and pathology illustrations of the head, neck, and special senses. Get clinically relevant knowledge with additional diagnostic images and advanced accompanying text and tables. Pre-punched holes make it easy to carry selected groups of cards with you. |
| medical genetics jorde: Medical Genetics G.P. PAL, 2009 The subject of genetics is gaining utmost importance in the medical science. However, most of the medical students find this subject difficult to understand and therefore, neglect it. The aim of this book is to present the text in such a way that it provides the clear and conceptual understanding of the subject. A simple and concise account of the genetic basis of various diseases, cancers and embryonic development is given to make the subject directly applicable to the medical science. It is hoped that the undergraduate and postgraduate students of medical science and clinicians will find this book interesting and useful. |
| medical genetics jorde: Molecular Biology Nancy Craig, Rachel Green, Orna Cohen-Fix, Carol Greider, Gisela Storz, Cynthia Wolberger, 2014-05 The biological world operates on a multitude of scales - from molecules to tissues to organisms to ecosystems. Throughout these myriad levels runs a common thread: the communication and onward passage of information, from cell to cell, from organism to organism and ultimately, from generation to generation. But how does this information come alive to govern the processes that constitute life? The answer lies in the molecular components that cooperate through a series of carefully-regulated processes to bring the information in our genome to life. These components and processes lie at the heart of one of the most fascinating subjects to engage the minds of scientists today: molecular biology. Molecular Biology: Principles of Genome Function, Second Edition, offers a fresh approach to the teaching of molecular biology by focusing on the commonalities that exist between the three kingdoms of life, and discussing the differences between the three kingdoms to offer instructive insights into molecular processes and components. This gives students an accurate depiction of our current understanding of the conserved nature of molecular biology, and the differences that underpin biological diversity. Additionally, an integrated approach demonstrates how certain molecular phenomena have diverse impacts on genome function by presenting them as themes that recur throughout the book, rather than as artificially separated topics As an experimental science, molecular biology requires an appreciation for the approaches taken to yield the information from which concepts and principles are deduced. Experimental Approach panels throughout the text describe research that has been particularly valuable in elucidating difference aspects of molecular biology. Each panel is carefully cross-referenced to the discussion of key molecular biology tools and techniques, which are presented in a dedicated chapter at the end of the book. Molecular Biology further enriches the learning experience with full-color artwork, end-of-chapter questions and summaries, suggested further readings grouped by topic, and an extensive glossary of key terms. Features: A focus on the underlying principles of molecular biology equips students with a robust conceptual framework on which to build their knowledge An emphasis on their commonalities reflects the processes and components that exist between bacteria, archae, and eukaryotes Experimental Approach panels demonstrate the importance of experimental evidence by describing research that has been particularly valuable in the field |
| medical genetics jorde: Strategies for Ensuring Diversity, Inclusion, and Meaningful Participation in Clinical Trials National Academies of Sciences, Engineering, and Medicine, Health and Medicine Division, Board on Population Health and Public Health Practice, Roundtable on the Promotion of Health Equity and the Elimination of Health Disparities, 2016-09-24 Even as the U.S. population becomes steadily more diverse, minorities and women remain underrepresented in clinical trials to develop new drugs and medical devices. Although progress in increasing minority participation in clinical trials has occurred, participation rates do not fully represent the overall population of minorities in the United States. This underrepresentation threatens the health of both these populations and the general population, since greater minority representation could reveal factors that affect health in all populations. Federal legislation has sought to increase the representation of minorities and women in clinical trials, but legislation by itself has not been sufficient to overcome the many barriers to greater participation. Only much broader changes will bring about the meaningful participation of all population groups in the clinical research needed to improve health. To examine the barriers to participation in clinical trials and ways of overcoming those barriers, the National Academies of Sciences, Engineering, and Medicine held a workshop in April 2015. This publication summarizes the presentations and discussions from the workshop. |
| medical genetics jorde: Color Atlas of Genetics Eberhard Passarge, 2007 A remarkable achievement by a single author ... concise but informative ... No geneticist or physician interested in genetic diseases should be without a copy of this remarkable edition. --American Journal of Medical Genetics More than ever, a solid understanding of genetics is a fundamental element of all medical and scientific educational programs, across virtually all disciplines. And the applications--and implications--of genetic research are at the heart of current medical scientific debates. Completely updated and revised, The Color Atlas of Genetics is an invaluable guide for students of medicine and biology, clinicians, and anyone else interested in this rapidly evolving field. The latest edition of this highly praised atlas retains several popular features, such as the accessible layout and logical structure, in addition to many novel features and 20 completely new color plates on new topics, including: Cell-to-cell communication, including important signaling and metabolic pathways Taxonomy of living organisms (tree of life) Epigenetic modifications in chromatin Apoptosis RNA interference (RNAi) Comparative genomic hybridization Origins of cancer Principles of gene and stem cell therapy, etc. With more than 200 absorbing full-color plates concisely explained on facing pages, the atlas offers readers an easy-to-use, yet remarkably detailed guide to key molecular, theoretical, and medical aspects of genetics and genomics. Brief descriptions of numerous genetic diseases are included, with references for more detailed information. Readers will find that this incomparable book presents a comprehensive picture of the field from its fascinating history to its most advanced applications. |
| medical genetics jorde: Cassidy and Allanson's Management of Genetic Syndromes John C. Carey, Suzanne B. Cassidy, Agatino Battaglia, David Viskochil, 2021-01-27 MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders. |
| medical genetics jorde: High-yield Biostatistics Anthony N. Glaser, 2001 Part of the successful High-Yield™ Series, High-Yield™ Biostatistics, Second Edition explains concepts, provides examples, and covers the complete range of biostatistics material that can be expected to appear on the USMLE Step 1. New to this edition are references to evidence-based medicine, and information updated to reflect changes in the current USMLE examinations. |
| medical genetics jorde: Evolution of Translational Omics Institute of Medicine, Board on Health Sciences Policy, Board on Health Care Services, Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials, 2012-09-13 Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials. |
| medical genetics jorde: High-yield Biostatistics, Epidemiology, and Public Health Anthony N. Glaser, 2014 This Fourth Edition provides a concise review of the biostatistics concepts that are tested in the USMLE Step 1. Information is presented in an easy-to-follow format, with High-Yield Points that help students focus on the most important USMLE Step 1 facts. The High-Yield outline format, with tables, diagrams, photographs, and images to clarify important material, provides a concentrated, efficient review for both course exams and the USMLE. |
| medical genetics jorde: Robbins Basic Pathology Vinay Kumar, Ramzi S. Cotran, Stanley Leonard Robbins, 2003 Offers a picture of the central body of knowledge of human pathology, with a clinicopathologic orientation. Wherever possible, the impact of molecular pathology on the practice of medicine is highlighted. This textbook of human pathology is for medical and allied health students. |
| medical genetics jorde: Advances in the Study of Genetic Disorders Kenji Ikehara, 2011-11-21 The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused. The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future. |
| medical genetics jorde: Medical Genetics and Genomics - E-BOOK Lynn B. Jorde, John C. Carey, Michael J. Bamshad, 2026-03-15 Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in the genetics of common diseases, as well as current progress in genetic testing and gene therapy. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more—all designed to enhance effective learning and retention of complex materia. - Discusses topical issues such as polygenic scores and their potential uses in the diagnosis and treatment of diseases such as diabetes, cancer, and heart disease, along with the latest advancements in sequencing technologies and their role in genetic testing and diagnosis. - Provides an up-to-date discourse on the modes and applications of genetic testing. - Contains useful concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. - Features a larger quantity of Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. - Uses examples of diseases to illustrate important concepts, demonstrating their relevance to medicine. - Study questions for self-assessment are provided within the print book, as well as 200 additional USMLE-style questions online. |
| medical genetics jorde: The Principles of Clinical Cytogenetics Steven L. Gersen, Martha B. Keagle, 1999-03-17 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. |
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