Genetics For Ophthalmologists

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Clinical Ophthalmic Genetics and Genomics

Author : Graeme C.M. Black
Publisher : Elsevier
ISBN 13 : 0128139447
Total Pages : 490 pages
Book Rating : 4.1/5 (281 download)

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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

Ophthalmic Genetic Diseases

Author : Natario L. Couser
Publisher :
ISBN 13 : 9780323654142
Total Pages : 0 pages
Book Rating : 4.6/5 (541 download)

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Book Synopsis Ophthalmic Genetic Diseases by : Natario L. Couser

Download or read book Ophthalmic Genetic Diseases written by Natario L. Couser and published by . This book was released on 2018-09-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides current, clinically focused information on more than 400 genetic eye diseases.

Genetic Diseases of the Eye

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi

Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

Genetics in Ophthalmology

Author : B. Wissinger
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805575785
Total Pages : 230 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Genetics in Ophthalmology by : B. Wissinger

Download or read book Genetics in Ophthalmology written by B. Wissinger and published by Karger Medical and Scientific Publishers. This book was released on 2003-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book 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.

Inherited Eye Diseases

Author : Saul Merin
Publisher : CRC Press
ISBN 13 : 9780824774103
Total Pages : 528 pages
Book Rating : 4.7/5 (741 download)

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Book Synopsis Inherited Eye Diseases by : Saul Merin

Download or read book Inherited Eye Diseases written by Saul Merin and published by CRC Press. This book was released on 1991-03-29 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: A standard textbook of the practicing ophthalmologist and the resident-in-training to consult when dealing with an inherited eye disease, enabling them to find the most likely diagnosis within the context of the various types and subtypes of genetic diseases, to obtain an in-depth understanding of t

The Eye

Author : John V. Forrester
Publisher : Elsevier Health Sciences
ISBN 13 : 0702055549
Total Pages : 660 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis The Eye by : John V. Forrester

Download or read book The Eye written by John V. Forrester and published by Elsevier Health Sciences. This book was released on 2015-06-01 with total page 660 pages. Available in PDF, EPUB and Kindle. Book 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. More on molecular pathology. Thorough updating of the sections on pathology, immunology, pharmacology and immunology. Revision of all other chapters. More colour illustrations Comes with complete electronic version

Stem Cell Biology and Regenerative Medicine in Ophthalmology

Author : Stephen Tsang
Publisher : Springer Science & Business Media
ISBN 13 : 146145493X
Total Pages : 196 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Stem Cell Biology and Regenerative Medicine in Ophthalmology by : Stephen Tsang

Download or read book Stem Cell Biology and Regenerative Medicine in Ophthalmology written by Stephen Tsang and published by Springer Science & Business Media. This book was released on 2012-12-09 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patient specific and disease specific stem cell lines have already introduced groundbreaking advances into the research and practice of ophthalmology. This volume provides a comprehensive and engaging overview of the latest innovations in the field. Twelve chapters discuss the fastest growing areas in ophthalmological stem cell research, from disease modelling, drug screening and gene targeting to clinical genetics and regenerative treatments. Innovative results from stem cell research of the past decade are pointing the way toward practicable treatments for retinitis pigmentosa, age related macular degeneration, and Stargardt disease. What future directions will stem cell research take? Researchers, graduate students, and fellows alike will find food for thought in this insightful guide tapping into the collective knowledge of leaders in the field. Stem Cells in Ophthalmology is part of the Stem Cells in Regenerative Medicine series dedicated to discussing current challenges and future directions in stem cell research.

Retinal Degenerative Diseases

Author : Matthew M. LaVail
Publisher : Springer Science & Business Media
ISBN 13 : 1461406315
Total Pages : 867 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Retinal Degenerative Diseases by : Matthew M. LaVail

Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.

Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics

Author : Birgit Lorenz
Publisher : Springer Science & Business Media
ISBN 13 : 9783540225942
Total Pages : 272 pages
Book Rating : 4.2/5 (259 download)

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Book Synopsis Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics by : Birgit Lorenz

Download or read book Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics written by Birgit Lorenz and published by Springer Science & Business Media. This book was released on 2006 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Series: • Highly practical and clinically relevant • Ophthalmology series is indispensable for continuous education and advanced training • All editors with international reputation and contributing authors with expertise in their topics • Reader-friendly format: Well-structured text and design, quick and easy to read • Richly illustrated with numerous tables and color photos • Bridges the gap between primary literature and daily practice • Every 2nd year each subject is refreshed with timely information about the new development in the specialized field This volume: Appeals not only to Ophthalmologists, but also to Pediatricians Gives quick and practical introduction to the most up-to date treatment options in pediatric ophthalmology Only addresses new developments of the past 2 years Covers 3 main topics: Genetics, Pediatrics and Neurophthalmology, while competing titles focus on one of these subspecialties

Advances in Vision Research, Volume II

Author : Gyan Prakash
Publisher : Springer
ISBN 13 : 9811308845
Total Pages : 464 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Advances in Vision Research, Volume II by : Gyan Prakash

Download or read book Advances in Vision Research, Volume II written by Gyan Prakash and published by Springer. This book was released on 2018-11-03 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Genetics for Ophthalmologists

Author : Graeme C. M. Black
Publisher : Remedica Publishing
ISBN 13 : 9781901346206
Total Pages : 0 pages
Book Rating : 4.3/5 (462 download)

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Book Synopsis Genetics for Ophthalmologists by : Graeme C. M. Black

Download or read book Genetics for Ophthalmologists written by Graeme C. M. Black and published by Remedica Publishing. This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past decade advances in molecular biology have transformed our understanding of the genetic basis of a broad range of ophthalmic conditions and of the disease processes that underlie them. Genetics for Ophthalmologists gives a concise summary of the current clinical understanding of genetic ophthalmology and how it may be applied to diagnosis management and counseling of patients with inherited eye diseases. In addition the book gives detailed information of recent advances in genetic eye disease and how disease pathophysiology correlates with this molecular genetic information. Genetics for Ophthalmologists is aimed at general and specialist ophthalmologists, at trainees at all levels as well as at clinical and molecular geneticists interested in the genetics of eye disease.

Macular Dystrophies

Author : Giuseppe Querques
Publisher : Springer
ISBN 13 : 3319266217
Total Pages : 128 pages
Book Rating : 4.3/5 (192 download)

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Book Synopsis Macular Dystrophies by : Giuseppe Querques

Download or read book Macular Dystrophies written by Giuseppe Querques and published by Springer. This book was released on 2016-02-15 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.

Retinal Dystrophy Gene Atlas

Author : Sarwar Zahid
Publisher : Springer
ISBN 13 : 3319108670
Total Pages : 250 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Retinal Dystrophy Gene Atlas by : Sarwar Zahid

Download or read book Retinal Dystrophy Gene Atlas written by Sarwar Zahid and published by Springer. This book was released on 2018-06-25 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.

Medical Genetics

Author : Lynn B. Jorde
Publisher :
ISBN 13 : 9780323035682
Total Pages : 0 pages
Book Rating : 4.0/5 (356 download)

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Book Synopsis Medical Genetics by : Lynn B. Jorde

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2003 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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!

Embryology of the Eye and Its Adnexa

Author : Y. Robert Barishak
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805571798
Total Pages : 147 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Embryology of the Eye and Its Adnexa by : Y. Robert Barishak

Download or read book Embryology of the Eye and Its Adnexa written by Y. Robert Barishak and published by Karger Medical and Scientific Publishers. This book was released on 2001-01-01 with total page 147 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph, unlike most previously published books on the subject, approaches the embryology of the eye and its adnexae from the perspective of gestational age, providing a unique overall view of the various structures of the eye at different stages of prenatal development. Embryogenesis, organogenesis and differentiation are three main periods that can be distinguished in the prenatal development of the human eye. The chapters in this book describe in detail the series of sequential events that occur during these periods from the fertilization of the ovum to, and after, birth. Superbly illustrated and clearly written, this text contains a wealth of information for residents in ophthalmology, neonatal and pediatric ophthalmologists, as well as for all ophthalmologists and physicians interested in developmental anomalies.

Inherited Retinal Disease

Author : Hyeong-Gon Yu
Publisher : Springer Nature
ISBN 13 : 9811673373
Total Pages : 237 pages
Book Rating : 4.8/5 (116 download)

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Book Synopsis Inherited Retinal Disease by : Hyeong-Gon Yu

Download or read book Inherited Retinal Disease written by Hyeong-Gon Yu and published by Springer Nature. This book was released on 2022-03-11 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients’ samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.

Anatomy ;Ocular physiology ;Biochemistry and genetics ;Pathology ;Microbiology ;Immunology ;Growth and senescence ;Optics ;Therapeutics ;Lasers and instrument technology ;Basic biostatistical and epidemiological terms

Download Anatomy ;Ocular physiology ;Biochemistry and genetics ;Pathology ;Microbiology ;Immunology ;Growth and senescence ;Optics ;Therapeutics ;Lasers and instrument technology ;Basic biostatistical and epidemiological terms PDF Online Free

Author : Louise Bye
Publisher : OUP Oxford
ISBN 13 : 0199584990
Total Pages : 285 pages
Book Rating : 4.1/5 (995 download)

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Book Synopsis Anatomy ;Ocular physiology ;Biochemistry and genetics ;Pathology ;Microbiology ;Immunology ;Growth and senescence ;Optics ;Therapeutics ;Lasers and instrument technology ;Basic biostatistical and epidemiological terms by : Louise Bye

Download or read book Anatomy ;Ocular physiology ;Biochemistry and genetics ;Pathology ;Microbiology ;Immunology ;Growth and senescence ;Optics ;Therapeutics ;Lasers and instrument technology ;Basic biostatistical and epidemiological terms written by Louise Bye and published by OUP Oxford. This book was released on 2013-05-23 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: An indispensable and fully comprehensive textbook, this covers the basic sciences in ophthalmology and is the only book you need to pass the FRCOphth Part 1 exam.