Genomic Imprinting And Uniparental Disomy In Medicine
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| Author | : Eric Engel |
| Publisher | : John Wiley & Sons |
| Total Pages | : 303 |
| Release | : 2004-03-24 |
| Genre | : Medical |
| ISBN | : 0471459135 |
Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance. Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.
| Author | : Thomas Liehr |
| Publisher | : Springer |
| Total Pages | : 201 |
| Release | : 2014-06-26 |
| Genre | : Medical |
| ISBN | : 3642552889 |
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
| Author | : R.J. MKinlay Gardner |
| Publisher | : OUP USA |
| Total Pages | : 650 |
| Release | : 2012 |
| Genre | : Medical |
| ISBN | : 0195375335 |
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
| Author | : R. J. McKinlay Gardner |
| Publisher | : Oxford University Press |
| Total Pages | : 729 |
| Release | : 2018 |
| Genre | : Medical |
| ISBN | : 0199329001 |
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
| Author | : Trygve Tollefsbol |
| Publisher | : Academic Press |
| Total Pages | : 617 |
| Release | : 2012-07-26 |
| Genre | : Medical |
| ISBN | : 0123884160 |
Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches. With its translational focus, this book will serve as valuable reference for both basic scientists and clinicians alike. Comprehensive coverage of fundamental and emergent science and clinical usage Side-by-side coverage of the basis of epigenetic diseases and their treatments Evaluation of recent epigenetic clinical breakthroughs
| Author | : Thomas Liehr |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 233 |
| Release | : 2011-11-03 |
| Genre | : Medical |
| ISBN | : 3642207669 |
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
| Author | : David Haig |
| Publisher | : Rutgers University Press |
| Total Pages | : 244 |
| Release | : 2002 |
| Genre | : Science |
| ISBN | : 9780813530277 |
Genomic imprinting allows scientists to trace genes to the parent of origin. This volume presents a collection of 13 papers by David Haig (organisimic and evolutionary biology, Harvard U.) on genomic imprinting. He argues that our paternally and maternally active genes do not work in cooperation with each other and in fact are in competition. Each paper is followed by commentary by the author, providing background information and discussing developments since its publication. Annotation copyrighted by Book News Inc., Portland, OR.
| Author | : Patrick John Morrison |
| Publisher | : Remedica |
| Total Pages | : 237 |
| Release | : 2005 |
| Genre | : Medical |
| ISBN | : 1901346692 |
Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).
| Author | : Merlin Butler |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 569 |
| Release | : 2006-10-11 |
| Genre | : Medical |
| ISBN | : 0387335366 |
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
| Author | : Claudia Gonzaga-Jauregui |
| Publisher | : Academic Press |
| Total Pages | : 318 |
| Release | : 2021-06-12 |
| Genre | : Medical |
| ISBN | : 0128204362 |
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians
