Clinical Ophthalmic Genetics and Genomics Book

Clinical Ophthalmic Genetics and Genomics


  • Author : Graeme C.M. Black
  • Publisher : Elsevier
  • Release Date : 2022-01-20
  • Genre: Medical
  • Pages : 490
  • ISBN 10 : 9780128139448

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Clinical Ophthalmic Genetics and Genomics 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

Clinical Ophthalmic Genetics and Genomics Book

Clinical Ophthalmic Genetics and Genomics


  • Author : Graeme C.M. Black
  • Publisher : Academic Press
  • Release Date : 2022-01-18
  • Genre: Medical
  • Pages : 492
  • ISBN 10 : 9780128139455

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Clinical Ophthalmic Genetics and Genomics Excerpt :

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

Genomic Medicine Book

Genomic Medicine


  • Author : Dhavendra Kumar
  • Publisher : Oxford University Press
  • Release Date : 2014-09-26
  • Genre: Medical
  • Pages : 480
  • ISBN 10 : 9780199398089

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Genomic Medicine Excerpt :

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.

Cardiovascular Genetics and Genomics Book

Cardiovascular Genetics and Genomics


  • Author : Dhavendra Kumar
  • Publisher : Springer
  • Release Date : 2018-01-17
  • Genre: Medical
  • Pages : 920
  • ISBN 10 : 9783319661148

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Cardiovascular Genetics and Genomics Excerpt :

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

Genetics in Ophthalmology Book

Genetics in Ophthalmology


  • Author : B. Wissinger
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 2003-01-01
  • Genre: Medical
  • Pages : 230
  • ISBN 10 : 9783805575782

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Genetics in Ophthalmology Excerpt :

The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

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

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


  • Author : Reed E. Pyeritz
  • Publisher : Academic Press
  • Release Date : 2020-09-30
  • Genre: Medical
  • Pages : 790
  • ISBN 10 : 9780128126837

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Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Excerpt :

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 nearly 5,000 pages of detailed coverage, 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researc

Genomics and Clinical Medicine Book

Genomics and Clinical Medicine


  • Author : Dhavendra Kumar
  • Publisher : Oxford University Press
  • Release Date : 2008-02-15
  • Genre: Medical
  • Pages : 672
  • ISBN 10 : 0199720053

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Genomics and Clinical Medicine 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.

Clinical Genomics  Practical Applications for Adult Patient Care Book

Clinical Genomics Practical Applications for Adult Patient Care


  • Author : Michael T. Murray
  • Publisher : McGraw Hill Professional
  • Release Date : 2013-10-22
  • Genre: Medical
  • Pages : 959
  • ISBN 10 : 9780071810593

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Clinical Genomics Practical Applications for Adult Patient Care Excerpt :

Convert the latest genomic data to the most effective patient management and treatment approaches Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases – from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a consistent, clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Omics in Clinical Practice Book

Omics in Clinical Practice


  • Author : Yu Liu
  • Publisher : CRC Press
  • Release Date : 2014-06-20
  • Genre: Science
  • Pages : 466
  • ISBN 10 : 9781771880602

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Omics in Clinical Practice Excerpt :

This book serves as an introduction to genomics, proteomics, and transcriptomics, putting these fields in relation to human disease and ailments. The various chapters consider the role of translation and personalized medicine, as well as pathogen detection, evolution, and infection, in relation to genomics, proteomics, and transcriptomics. The topic of companion diagnostics is also covered. The book is broken into five sections. Part I examines the connection between omics and human disease. Part II looks at the applications for the fields of translational and personalized medicine. Part III focuses on molecular and genetic markers. Part IV describes the use of omics while studying pathogens, and Part V examines the applications for companion diagnostics. The book: • Introduces genomics, proteomics, and transcriptomics in relation to human disease and ailments • Considers the role of translation and personalized medicine in relation to genomics, proteomics, and transcriptomics • Covers molecular and genetic markers • Considers the role of genomics, proteomics, and transcriptomics in relation to pathogen detection, evolution, and infection • Covers companion diagnostics in relation to genomics, proteomics, and transcriptomics clinical applications and research

Genomic Medicine Book

Genomic Medicine


  • Author : Dhavendra Kumar
  • Publisher : Oxford Monographs on Medical G
  • Release Date : 2014-10-15
  • Genre: Medical
  • Pages : 853
  • ISBN 10 : 9780199896028

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Genomic Medicine Excerpt :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

The Eye Book

The Eye


  • Author : John V. Forrester
  • Publisher : Elsevier Health Sciences
  • Release Date : 2015-06-01
  • Genre: Medical
  • Pages : 660
  • ISBN 10 : 9780702055546

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The Eye Excerpt :

The Eye: Basic Sciences in Practice provides highly accessible, concise coverage of all the essential basic science required by today's ophthalmologists and optometrists in training. It is also essential reading for those embarking on a career in visual and ophthalmic science, as well as an invaluable, current refresher for the range of practitioners working in this area. This new fourth edition has now been fully revised and updated in line with current curricula, key research developments and clinical best practice. It succinctly incorporates the massive strides being made by genetics and functional genomics based on the Human Genome Project, the new understanding of how the microbiome affects all aspects of immunology, the remarkable progress in imaging technology now applied to anatomy and neurophysiology, as well as exciting new molecular and other diagnostic methodologies now being used in microbiology and pathology. All this and more collectively brings a wealth of new knowledge to students and practitioners in the fields of ophthalmology and visual science. For the first time, this (print) edition also now comes with bonus access to the complete, fully searchable electronic text - including carefully selected additional information and new video content to further explain and expand on key concepts - making The Eye a more flexible, comprehensive and engaging learning package than ever before. The only all-embracing textbook of basic science suitable for trainee ophthalmologists, optometrists and vision scientists - other books concentrate on the individual areas such as anatomy. Attractive page design with clear, colour diagrams and text boxes make this a much more accessible book to learn from than many postgraduate textbooks. Presents in a readable form an account of all the basic sciences necessary for an understanding of the eye - anatomy, embryology, genetics, biochemistry, physiology, pharmacology, immunology, microbiology and infection and pathology.

Principles and Practice of Ophthalmology E Book Book

Principles and Practice of Ophthalmology E Book


  • Author : Daniel M. Albert
  • Publisher : Elsevier Health Sciences
  • Release Date : 2008-02-27
  • Genre: Medical
  • Pages : 5689
  • ISBN 10 : 9781437721119

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Principles and Practice of Ophthalmology E Book Excerpt :

Inside the 3rd edition of this esteemed masterwork, hundreds of the most distinguished authorities from around the world provide today's best answers to every question that arises in your practice. They deliver in-depth guidance on new diagnostic approaches, operative technique, and treatment option, as well as cogent explanations of every new scientific concept and its clinical importance. With its new streamlined, more user-friendly, full-color format, this 3rd edition makes reference much faster, easier, and more versatile. More than ever, it's the source you need to efficiently and confidently overcome any clinical challenge you may face. Comprehensive, authoritative, and richly illustrated coverage of every scientific and clinical principle in ophthalmology ensures that you will always be able to find the guidance you need to diagnose and manage your patients' ocular problems and meet today's standards of care. Updates include completely new sections on "Refractive Surgery" and "Ethics and Professionalism"... an updated and expanded "Geneitcs" section... an updated "Retina" section featuring OCT imaging and new drug therapies for macular degeneration... and many other important new developments that affect your patient care. A streamlined format and a new, more user-friendly full-color design - with many at-a-glance summary tables, algorithms, boxes, diagrams, and thousands of phenomenal color illustrations - allows you to locate the assistance you need more rapidly than ever.

Educating Health Professionals in Genomic Medicine  Evidence Based Strategies and Approaches Book

Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches


  • Author : Sylvia Ann Metcalfe
  • Publisher : Frontiers Media SA
  • Release Date : 2020-10-09
  • Genre: Medical
  • Pages : 129
  • ISBN 10 : 9782889660599

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Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches Excerpt :

This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Copeland and Afshari s Principles and Practice of Cornea Book

Copeland and Afshari s Principles and Practice of Cornea


  • Author : Robert A Copeland Jr
  • Publisher : JP Medical Ltd
  • Release Date : 2013-02-28
  • Genre: Medical
  • Pages : 1666
  • ISBN 10 : 9789350901724

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Copeland and Afshari s Principles and Practice of Cornea Excerpt :

The cornea is the transparent front part of the eye covering the iris and the pupil, allowing light to enter and covering two thirds of the eye’s focusing tasks. This two volume set is a comprehensive guide to the latest research and techniques for the cornea. Beginning with basic science, examination techniques and epidemiology, the following chapters discuss the diagnosis and the medical and surgical treatment of numerous different conditions and diseases that may affect the cornea. Written by an extensive international editor and author team, this manual features more than 1300 full colour clinical and histopathological images, as well as a DVD demonstrating a multitude of surgical techniques described in the book. Key points Comprehensive two volume set describing diagnosis and treatment of numerous corneal disorders Features more than 1300 colour images and illustrations Includes a DVD demonstrating surgical techniques and procedures Extensive international author and editor team

Ophthalmic Epidemiology Book

Ophthalmic Epidemiology


  • Author : Ching-Yu Cheng
  • Publisher : CRC Press
  • Release Date : 2022-05-25
  • Genre: Medical
  • Pages : 300
  • ISBN 10 : 9781351378796

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Ophthalmic Epidemiology Excerpt :

Ophthalmic Epidemiology: Current Concepts to Digital Strategies provides a comprehensive guide to graduate students, ophthalmologists, and researchers in ophthalmic epidemiology. It covers recently developed new methodologies, technologies and resources in ocular epidemiological research, such as telemedicine, disease registries, EMR, bio-banks and omics. This book also summarizes recent epidemiological findings and provides up-to-date data on ocular diseases. Furthermore, it introduces and discusses the uses of epidemiology in the evaluation of health services and population screening programs and reviews the application of epidemiology in intervention trials in the communities. Key Features Comprehensive guide to the epidemiology of common eye diseases. Provides updates on the prevalence and risk factors of eye diseases. Outlines how epidemiological techniques can be utilized to evaluate ophthalmic health services and programs.