A Compendium Of Inherited Disorders And The Eye

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A Compendium of Inherited Disorders and the Eye

Author : Elias I. Traboulsi M.D.
Publisher : Oxford University Press
ISBN 13 : 0190291060
Total Pages : 272 pages
Book Rating : 4.1/5 (92 download)

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Book Synopsis A Compendium of Inherited Disorders and the Eye by : Elias I. Traboulsi M.D.

Download or read book A Compendium of Inherited Disorders and the Eye written by Elias I. Traboulsi M.D. and published by Oxford University Press. This book was released on 2005-12-01 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

Genetics and Genomics of Eye Disease

Author : Xiaoyi Raymond Gao
Publisher : Academic Press
ISBN 13 : 0128167270
Total Pages : 383 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Genetics and Genomics of Eye Disease by : Xiaoyi Raymond Gao

Download or read book Genetics and Genomics of Eye Disease written by Xiaoyi Raymond Gao and published by Academic Press. This book was released on 2019-09-12 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

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.

Wills Eye Handbook of Ocular Genetics

Author : Alex V. Levin
Publisher : Thieme
ISBN 13 : 1638531641
Total Pages : 458 pages
Book Rating : 4.6/5 (385 download)

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Book Synopsis Wills Eye Handbook of Ocular Genetics by : Alex V. Levin

Download or read book Wills Eye Handbook of Ocular Genetics written by Alex V. Levin and published by Thieme. This book was released on 2016-10-01 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended by the BMA Medical Book Awards for Surgical Specialties! Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists' purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key Features Fundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issues Patient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future options Anterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmia A broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisis This textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease.

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.

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

Common Eye Diseases and their Management

Author : Nicholas Robert Galloway
Publisher : Springer Science & Business Media
ISBN 13 : 144713625X
Total Pages : 196 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis Common Eye Diseases and their Management by : Nicholas Robert Galloway

Download or read book Common Eye Diseases and their Management written by Nicholas Robert Galloway and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rich and colorful illustration Problem-oriented approach Technical terms are avoided, when they can be replaced with plain English Book deals with the science of Ophthalmology at a basic level Text concentrates on eye diseases which are likely to be seen by general practitioners and optometrists at the primary care level Ideal for students

Atlas of Inherited Retinal Diseases

Author : Stephen H. Tsang
Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 274 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Atlas of Inherited Retinal Diseases by : Stephen H. Tsang

Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

The Metabolic & Molecular Bases of Inherited Disease

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Genetic Disorders of the Indian Subcontinent

Author : Dhavendra Kumar
Publisher : Springer Science & Business Media
ISBN 13 : 140202231X
Total Pages : 611 pages
Book Rating : 4.4/5 (2 download)

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Book Synopsis Genetic Disorders of the Indian Subcontinent by : Dhavendra Kumar

Download or read book Genetic Disorders of the Indian Subcontinent written by Dhavendra Kumar and published by Springer Science & Business Media. This book was released on 2012-09-15 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.

A-Z of Syndromes and Inherited Disorders

Author : Patricia Gilbert
Publisher : Nelson Thornes
ISBN 13 : 9780748745296
Total Pages : 358 pages
Book Rating : 4.7/5 (452 download)

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Book Synopsis A-Z of Syndromes and Inherited Disorders by : Patricia Gilbert

Download or read book A-Z of Syndromes and Inherited Disorders written by Patricia Gilbert and published by Nelson Thornes. This book was released on 2000 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: The incidence of handicap from syndromes and inherited disorders is worldwide and causes common problems for families and society. This book includes ten extra syndromes in an endeavour to keep up with the rapidly expanding knowledge associated with genetic disorders.

The Eye in Systemic Disease

Author : Jack J. Kanski
Publisher : Butterworth-Heinemann
ISBN 13 : 1483164365
Total Pages : 171 pages
Book Rating : 4.4/5 (831 download)

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Book Synopsis The Eye in Systemic Disease by : Jack J. Kanski

Download or read book The Eye in Systemic Disease written by Jack J. Kanski and published by Butterworth-Heinemann. This book was released on 2014-04-03 with total page 171 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Eye in Systemic Disease, Second Edition presents an overview of the relationship of the eye and medicine. The book details the systemic aspects of diseases. The topics discussed include various eye conditions such as conjunctivitis, episcleritis, keratitis, keratoconjunctivitis sicca, and cataract. Endocrine, circulatory, rheumatological, neurological, pulmonary, and blood disorders are covered as well. Physicians and students of medicine and pathology will find the book very useful.

Genetics of Ocular Diseases

Author : H. V. Nema
Publisher : Springer Nature
ISBN 13 : 9811642478
Total Pages : 210 pages
Book Rating : 4.8/5 (116 download)

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Book Synopsis Genetics of Ocular Diseases by : H. V. Nema

Download or read book Genetics of Ocular Diseases written by H. V. Nema and published by Springer Nature. This book was released on 2022-03-11 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book focuses on describing the importance of genetics in eye diseases in a comprehensive and concise manner. Mutations in different set of genes have been detected and incriminated in complex mechanisms of causing leading eye diseases such as cataract and glaucoma. This book written by well-established ophthalmologists and geneticists presents a complicated subject in simple and easy to understand manner. Chapters cover the concept of gene therapy which is an emerging subject with high potential. The book includes a separate chapter on genetic counseling, which has become an integral component of ophthalmology. The book will assist the practicing ophthalmologists in early diagnosis of genetic eye diseases as well as help the geneticists in understaning the basic concepts. It will also be useful for students who are preparing for MD, MS, DNB and FRCS examinations.

An Introduction to Human Molecular Genetics

Author : Jack J. Pasternak
Publisher : John Wiley & Sons
ISBN 13 : 047171917X
Total Pages : 656 pages
Book Rating : 4.4/5 (717 download)

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Book Synopsis An Introduction to Human Molecular Genetics by : Jack J. Pasternak

Download or read book An Introduction to Human Molecular Genetics written by Jack J. Pasternak and published by John Wiley & Sons. This book was released on 2005-06-14 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Inherited Chorioretinal Dystrophies

Author : Bernard Puech
Publisher : Springer
ISBN 13 : 3540694668
Total Pages : 488 pages
Book Rating : 4.5/5 (46 download)

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Book Synopsis Inherited Chorioretinal Dystrophies by : Bernard Puech

Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

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.

The A-Z Reference Book of Syndromes and Inherited Disorders

Author : Patricia Gilbert
Publisher : Nelson Thornes
ISBN 13 :
Total Pages : 444 pages
Book Rating : 4.0/5 ( download)

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Book Synopsis The A-Z Reference Book of Syndromes and Inherited Disorders by : Patricia Gilbert

Download or read book The A-Z Reference Book of Syndromes and Inherited Disorders written by Patricia Gilbert and published by Nelson Thornes. This book was released on 1997 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: Providing a reference for people with a syndrome or inherited disorder, and those who care for them, this book describes the disorders and problems of both children and adults, and considers the day-to-day management of conditions. It is written in non-technical language for a lay readership, but aims to be detailed enough for the medical, nursing and midwifery professions. This edition has been expanded to include 20 more syndromes, as well as additional material to assist readers to contact self-help groups.