Genetic Diseases of the Eye PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genetic Diseases of the Eye PDF full book. Access full book title Genetic Diseases of the Eye by Elias I. Traboulsi, MD. Download full books in PDF and EPUB format.
Author: Elias I. Traboulsi, MD
Publisher: Oxford University Press
ISBN: 0199716978
Category : Medical
Languages : en
Pages : 940
Get Book Here
Book Description
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.
Author: Janey L. Wiggs
Publisher: Wiley-Liss
ISBN:
Category : Medical
Languages : en
Pages : 270
Get Book Here
Book Description
Presenting an overview of recent advances in the molecular genetics of ocular disease, this text covers the first principles of basic genetics as well as the more recent techniques of molecular genetics. Other chapters discuss the molecular biology and molecular genetics of selected eye disorders.
Author: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805575785
Category : Medical
Languages : en
Pages : 230
Get Book Here
Book Description
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.
Author: Alan F. Wright
Publisher: CRC Press
ISBN: 9783718654932
Category : Medical
Languages : en
Pages : 554
Get Book Here
Book Description
Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.
Author: Graeme C. M. Black
Publisher: Remedica Publishing
ISBN: 9781901346206
Category : Eye
Languages : en
Pages : 0
Get Book Here
Book Description
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.
Author: Elias I. Traboulsi
Publisher: OUP USA
ISBN: 0195326148
Category : Medical
Languages : en
Pages : 940
Get Book Here
Book Description
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.
Author: Chitra Kannabiran
Publisher: Springer
ISBN: 9811371466
Category : Medical
Languages : en
Pages : 172
Get Book Here
Book Description
This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.
Author:
Publisher: Academic Press
ISBN: 0128012676
Category : Science
Languages : en
Pages : 573
Get Book Here
Book Description
This volume of Progress in Molecular Biology and Translational Science focuses on the molecular biology of eye disease. Contributions from leading authorities Informs and updates on all the latest developments in the field
Author: Giulia Venturini
Publisher:
ISBN:
Category :
Languages : en
Pages : 130
Get Book Here
Book Description
Thèse. Biologie. Médecine. 2013
Author: Joram Piatigorsky
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 512
Get Book Here
Book Description
Author: Gyan Prakash
Publisher: Springer Nature
ISBN: 9811591849
Category : Medical
Languages : en
Pages : 478
Get Book Here
Book Description
This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe.