Molecular Genetics Of Inherited Eye Disorders

Download Molecular Genetics Of Inherited Eye Disorders full books in PDF, epub, and Kindle. Read online Molecular Genetics Of Inherited Eye Disorders ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Molecular Genetics of Inherited Eye Disorders

Author : Alan F. Wright
Publisher : CRC Press
ISBN 13 : 9783718654932
Total Pages : 554 pages
Book Rating : 4.6/5 (549 download)

DOWNLOAD NOW!

Book Synopsis Molecular Genetics of Inherited Eye Disorders by : Alan F. Wright

Download or read book Molecular Genetics of Inherited Eye Disorders written by Alan F. Wright and published by CRC Press. This book was released on 1994-12-01 with total page 554 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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)

DOWNLOAD NOW!

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 for Ophthalmologists

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

DOWNLOAD NOW!

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.

Molecular Genetics of Ocular Disease

Author : Janey L. Wiggs
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 270 pages
Book Rating : 4.3/5 (91 download)

DOWNLOAD NOW!

Book Synopsis Molecular Genetics of Ocular Disease by : Janey L. Wiggs

Download or read book Molecular Genetics of Ocular Disease written by Janey L. Wiggs and published by Wiley-Liss. This book was released on 1995 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

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)

DOWNLOAD NOW!

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)

DOWNLOAD NOW!

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 of Eye Diseases

Author : Chitra Kannabiran
Publisher : Springer
ISBN 13 : 9811371466
Total Pages : 172 pages
Book Rating : 4.8/5 (113 download)

DOWNLOAD NOW!

Book Synopsis Genetics of Eye Diseases by : Chitra Kannabiran

Download or read book Genetics of Eye Diseases written by Chitra Kannabiran and published by Springer. This book was released on 2019-05-17 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inherited Eye Diseases

Author : Saul Merin
Publisher : CRC Press
ISBN 13 : 9781574448399
Total Pages : 816 pages
Book Rating : 4.4/5 (483 download)

DOWNLOAD NOW!

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 2005-08-12 with total page 816 pages. Available in PDF, EPUB and Kindle. Book excerpt: Keeping pace with the changing face of genetics in ophthalmology, this Second Edition contains new chapters on molecular genetics, thrombophilia, and genetically triggered retinal vascular diseases, as well as offers many new subchapters highlighting current research by recognized leaders in the field.

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)

DOWNLOAD NOW!

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.

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)

DOWNLOAD NOW!

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.

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)

DOWNLOAD NOW!

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.

Advances in Vision Research, Volume III

Author : Gyan Prakash
Publisher : Springer Nature
ISBN 13 : 9811591849
Total Pages : 478 pages
Book Rating : 4.8/5 (115 download)

DOWNLOAD NOW!

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

Download or read book Advances in Vision Research, Volume III written by Gyan Prakash and published by Springer Nature. This book was released on 2021-02-18 with total page 478 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Molecular Genetics of Axial Patterning, Growth and Disease in the Drosophila Eye

Author : Amit Singh
Publisher : Springer Science & Business Media
ISBN 13 : 1461482321
Total Pages : 368 pages
Book Rating : 4.4/5 (614 download)

DOWNLOAD NOW!

Book Synopsis Molecular Genetics of Axial Patterning, Growth and Disease in the Drosophila Eye by : Amit Singh

Download or read book Molecular Genetics of Axial Patterning, Growth and Disease in the Drosophila Eye written by Amit Singh and published by Springer Science & Business Media. This book was released on 2013-09-14 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Undoubtedly, Drosophila melanogaster, fruit fly, has proved to be one of the most popular invertebrate model organisms, and the work horse for modern day biologists. Drosophila, a highly versatile model with a genetic legacy of more than a century, provides powerful genetic, cellular, biochemical and molecular biology tools to address many questions extending from basic biology to human diseases. One of the most important questions in biology focuses on how does a multi-cellular organism develop from a single-celled embryo. The discovery of the genes responsible for pattern formation has helped refine this question, and led to other questions, such as the role of various genetics and cell biological pathways in regulating the crucial process of pattern formation and growth during organogenesis. Drosophila eye model has been extensively used to study molecular genetic mechanisms involved in patterning and growth. Since the genetic machinery involved in the Drosophila eye is similar to humans, it has been used to model human diseases and homology to eyes in other taxa. This book will discuss molecular genetic mechanisms of pattern formation, mutations in axial patterning, Genetic regulation of growth in Drosophila eye, and more. There have been no titles in the past ten years covering this topic, thus an update is urgently needed.

Advances in Vision Research, Volume I

Author : Gyan Prakash
Publisher : Springer
ISBN 13 : 4431565116
Total Pages : 523 pages
Book Rating : 4.4/5 (315 download)

DOWNLOAD NOW!

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

Download or read book Advances in Vision Research, Volume I written by Gyan Prakash and published by Springer. This book was released on 2017-04-24 with total page 523 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents 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 I 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.

Molecular Biology of Eye Disease

Author :
Publisher : Academic Press
ISBN 13 : 0128012676
Total Pages : 548 pages
Book Rating : 4.1/5 (28 download)

DOWNLOAD NOW!

Book Synopsis Molecular Biology of Eye Disease by :

Download or read book Molecular Biology of Eye Disease written by and published by Academic Press. This book was released on 2015-08-13 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Macular Dystrophies

Author : Giuseppe Querques
Publisher : Springer
ISBN 13 : 3319266217
Total Pages : 120 pages
Book Rating : 4.3/5 (192 download)

DOWNLOAD NOW!

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 120 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.

Molecular Genetics of Axial Patterning, Growth and Disease in Drosophila Eye

Author : Amit Singh
Publisher : Springer Nature
ISBN 13 : 3030422461
Total Pages : 368 pages
Book Rating : 4.0/5 (34 download)

DOWNLOAD NOW!

Book Synopsis Molecular Genetics of Axial Patterning, Growth and Disease in Drosophila Eye by : Amit Singh

Download or read book Molecular Genetics of Axial Patterning, Growth and Disease in Drosophila Eye written by Amit Singh and published by Springer Nature. This book was released on 2020-05-18 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Drosophila melanogaster (fruit fly) is a highly versatile model with a genetic legacy of more than a century. It provides powerful genetic, cellular, biochemical and molecular biology tools to address many questions extending from basic biology to human diseases. One of the most important questions in biology is how a multi-cellular organism develops from a single-celled embryo. The discovery of the genes responsible for pattern formation has helped refine this question and has led to other questions, such as the role of various genetic and cell biological pathways in regulating the process of pattern formation and growth during organogenesis. The Drosophila eye model has been extensively used to study molecular genetic mechanisms involved in patterning and growth. Since the genetic machinery involved in the Drosophila eye is similar to humans, it has been used to model human diseases and homology to eyes in other taxa. This updated second edition covers current progress in the study of molecular genetic mechanisms of pattern formation, mutations in axial patterning, genetic regulation of growth, and more using the Drosophila eye as a model.