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Medical Genetics in Pediatric Practice

Author : American Academy of Pediatrics

Publisher :

Page : 0 pages

File Size : 48,26 MB

Release : 2013

Category : Genetic screening

ISBN : 9781581104967

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Book Description

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



Emery and Rimoin's Principles and Practice of Medical Genetics

Author : David L. Rimoin

Publisher :

Page : 1264 pages

File Size : 49,16 MB

Release : 2007

Category : Genetic disorders

ISBN :

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Book Description

"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.



Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Author : Reed E. Pyeritz

Publisher : Academic Press

Page : 414 pages

File Size : 26,33 MB

Release : 2018-11-20

Category : Science

ISBN : 0128126841

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Book Description

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice - Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics



The Practices of Human Genetics

Author : Michael Fortun

Publisher : Springer Science & Business Media

Page : 236 pages

File Size : 19,62 MB

Release : 2012-12-06

Category : Science

ISBN : 9401147183

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Book Description

That concern about human genetics is at the top of many lists of issues requiring intense discussion from scientific, political, social, and ethical points of view is today no surprise. It was in the spirit of attempting to establish the basis for intelligent discussion of the issues involved that a group of us gathered at a meeting of the International Society for the History, Philosophy, and Social Studies of Biology in the Summer of 1995 at Brandeis University and began an exploration of these questions in earlier versions of the papers presented here. Our aim was to cross disciplines and jump national boundaries, to be catholic in the methods and approaches taken, and to bring before readers interested in the emerging issues of human genetics well-reasoned, informative, and provocative papers. The initial conference and elements of the editorial work which have followed were generously supported by the Stifterverband fUr die Deutsche Wissenschaft. We thank Professor Peter Weingart of Bielefeld University for his assistance in gaining this support. As Editors, we thank the anonymous readers who commented upon and critiqued many of the papers and in tum made each paper a more valuable contribution. We also thank the authors for their understanding and patience. Michael Fortnn Everett Mendelsohn Cambridge, MA September 1998 vii INTRODUCTION In 1986, the annual symposium at the venerable Cold Spring Harbor laboratories was devoted to the "Molecular Biology of Homo sapiens.



Human Genetics

Author : Ricki Lewis

Publisher : McGraw-Hill Science, Engineering & Mathematics

Page : 439 pages

File Size : 46,36 MB

Release : 2004-02

Category : Science

ISBN : 9780072951745

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Book Description

Human Genetics, 6/e is a non-science majors human genetics text that clearly explains what genes are, how they function, how they interact with the environment, and how our understanding of genetics has changed since completion of the human genome project. It is a clear, modern, and exciting book for citizens who will be responsible for evaluating new medical options, new foods, and new technologies in the age of genomics.



Human Genetics

Author : Christian Patrick Schaaf

Publisher : Lippincott Williams & Wilkins

Page : 410 pages

File Size : 40,16 MB

Release : 2012

Category : Medical

ISBN : 1608316718

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Book Description

Core genetics text for medical students in their 1st or 2nd year. Unique in its organ system approach, this textbook teaches concepts in medical genetics by exploring disease entities within the context of the organ system in which they most frequently present. TOP 30 genetic conditions covered in a tear-out apple flap or C2. Section on information from a patient and familys point of view helps teach students about key obstacles for patients suffering from severe genetic conditions. Adapted from a successful German text published by Springer.



Human Genetics

Author : Bruce R. Korf

Publisher : Wiley-Blackwell

Page : 386 pages

File Size : 23,14 MB

Release : 2000-04-14

Category : Science

ISBN : 9780632044252

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Book Description

Human Genetics, the first genetics book to combine text with problem-based tutorial exercises, is the ideal textbook for student-driven learning. Each chapter focuses on a core concept of human genetics, illustrated by a corresponding clinical case that guides the reader through key principles in the text. Material from classic Mendelain genetics, molecular genetics, and quantitative genetics provides a context in which the role of genes in disease can be readily understood. Additionally, 300 illustrations clarify and reinforce discussions of genetic disorders. And, questions at the end of each chapter facilitate self-assessment.



Handbook of Clinical Adult Genetics and Genomics

Author : Shweta Dhar

Publisher : Academic Press

Page : 530 pages

File Size : 32,87 MB

Release : 2020-04-10

Category : Science

ISBN : 0128173459

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Book Description

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



Human Genetics and Genomics

Author : Bruce R. Korf

Publisher : John Wiley & Sons

Page : 280 pages

File Size : 14,70 MB

Release : 2012-11-19

Category : Medical

ISBN : 1118537661

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Book Description

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.



Emery and Rimoin's Essential Medical Genetics

Author : David L. Rimoin

Publisher : Elsevier

Page : 647 pages

File Size : 34,86 MB

Release : 2013-05-15

Category : Science

ISBN : 0124169821

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Book Description

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com