Download or read book Genetic Mosaicism of the Eye written by Vera Beatriz M. Hochberg and published by . This book was released on 1976 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Mosaicism written by János Szabad and published by Cambridge Scholars Publishing. This book was released on 2021-06-17 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: The presence of green and yellow ornamental plants around us, dark spots on our skin, people with brown and blue mosaic irises, and white-spotted dogs and horses are all well-known phenomena of life, and are recognisable genetic mosaics. Although such genetics mosaics live with us (and, in fact, we are all a genetic mosaics), little is known about the genetic bases of their origin. This book provides a general overview of the mechanisms that lead to the formation of different types of mosaics, listing an ample collection of examples to illustrate the impact of the genetic mosaics on our life. The book will appeal to the reader interested in understanding the relationship between genetic events and mosaicism, especially undergraduate and graduate students and medical doctors, as well as experts engaged in horticulture and animal breeding.
Download or read book Cortical Visual Impairment written by Christine Roman-Lantzy and published by American Foundation for the Blind. This book was released on 2007 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: The current leading cause of visual impairment among children is not a disease or condition of the eyes, but cortical visual impairment (CVI)-also known as cerebral visual impairment-in which visual dysfunction is caused by damage or injury to the brain. The definition, nature, and treatment of CVI are the focus of great concern and widespread debate, and this complex condition poses challenges to professionals and families seeking to support the growth and development of visually impaired children. On the basis of more than 30 years' experience in working with hundreds of children of all ages with CVI, Christine Roman-Lantzy has developed a set of unique assessment tools and systematic, targeted principles whose use has helped children learn to use their vision more effectively. This one-of-a-kind resource provides readers with both a conceptual framework with which to understand working with CVI and concrete strategies to apply directly in their work.
Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Nature. This book was released on 2022-11-24 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.
Download or read book Genetic Mosaics and Cell Differentiation written by W. J. Gehring and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 323 pages. Available in PDF, EPUB and Kindle. Book excerpt: The relationship of cell lineage and differentiation is one of the most intriguing problems in developmental biology. In most higher organisms, the analysis of the cell lineage has to rely on indirect methods. Only in the most suitable systems, like the nematodes, can the pattern of cell division be determined by direct observation under the microscope. In cases where this is not possible, the fate of the cells has to be examined by using cell markers. Most suitable for this purpose are genetic markers, provided that they do not interfere with the developmental pathway to be studied. However, suitable genetic markers and techniques for generating genetic mosaics are available in a few organisms only. Therefore, this volume is largely concerned with Drosophila and the mouse, which have been studied most extensively. In 1929 STURTEVANT introduced the analysis of gynandromorphs into devel opmental genetics. However, this important contribution remained largely unnoticed until the late sixties, when the potential of this technique for deter mining embryonic fate maps and the number of primordial cells was exploited, and the methodology extended to the mapping of mutational foci. Mitotic recombination was demostrated by STER:-
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.
Download or read book A study of dominant mosaic eye color mutants in Drosophila melanogaster written by Hiram Bentley Glass and published by . This book was released on 1932 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genes Development and Cancer written by Howard D. Lipshitz and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: - For the first time, Nobel Prize winner, Edward B. Lewis' research papers are published within one volume - Papers are organized into sections that reflect the focus of the research - Commentaries by Howard Lipshitz highlight key methods and results by explaining the science so it is accessible to upper-level undergraduates, graduate students, and professional researchers
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
Download or read book Drosophila Eye Development written by Kevin Moses and published by Springer Science & Business Media. This book was released on 2002-03-12 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: 1 Kevin Moses It is now 25 years since the study of the development of the compound eye in Drosophila really began with a classic paper (Ready et al. 1976). In 1864, August Weismann published a monograph on the development of Diptera and included some beautiful drawings of the developing imaginal discs (Weismann 1864). One of these is the first description of the third instar eye disc in which Weismann drew a vertical line separating a posterior domain that included a regular pattern of clustered cells from an anterior domain without such a pattern. Weismann suggested that these clusters were the precursors of the adult ommatidia and that the line marks the anterior edge of the eye. In his first suggestion he was absolutely correct - in his second he was wrong. The vertical line shown was not the anterior edge of the eye, but the anterior edge of a moving wave of patterning and cell type specification that 112 years later (1976) Ready, Hansen and Benzer would name the "morphogenetic furrow". While it is too late to hear from August Weismann, it is a particular pleasure to be able to include a chapter in this Volume from the first author of that 1976 paper: Don Ready! These past 25 years have seen an astonishing explosion in the study of the fly eye (see Fig.
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.
Download or read book CRISPR Cas Systems written by Rodolphe Barrangou and published by Springer Science & Business Media. This book was released on 2012-12-13 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: CRISPR/Cas is a recently described defense system that protects bacteria and archaea against invasion by mobile genetic elements such as viruses and plasmids. A wide spectrum of distinct CRISPR/Cas systems has been identified in at least half of the available prokaryotic genomes. On-going structural and functional analyses have resulted in a far greater insight into the functions and possible applications of these systems, although many secrets remain to be discovered. In this book, experts summarize the state of the art in this exciting field.
Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Genes in Conflict written by Austin BURT and published by Harvard University Press. This book was released on 2009-06-30 with total page 613 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covering all species from yeast to humans, this is the first book to tell the story of selfish genetic elements that act narrowly to advance their own replication at the expense of the larger organism.
Download or read book Retinoblastoma written by Govindasamy Kumaramanickavel and published by BoD – Books on Demand. This book was released on 2012-03-28 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Retinoblastoma is the first tumor suppressor gene discovered ever. The discovery opened a new avenue in the field of oncology leading to the identification of 35 tumor suppressor genes, till date in our genome. This book is an excellent compilation of both clinical and basic science information that meets the needs of a young clinician and a researcher at the same time. It also has abundant information on recent advances and cutting-edge knowledge in intracellular molecular cross-talking of retinoblastoma protein with various cellular viral-like proteins.
