Genomic Imprinting And Uniparental Disomy In Medicine PDF Download
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| Author | : Eric Engel |
| Publisher | : John Wiley & Sons |
| Total Pages | : 303 |
| Release | : 2004-03-24 |
| Genre | : Medical |
| ISBN | : 0471459135 |
Download Genomic Imprinting and Uniparental Disomy in Medicine Book in PDF, ePub and Kindle
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 | : R.J. MKinlay Gardner |
| Publisher | : OUP USA |
| Total Pages | : 650 |
| Release | : 2012 |
| Genre | : Medical |
| ISBN | : 0195375335 |
Download Chromosome Abnormalities and Genetic Counseling Book in PDF, ePub and Kindle
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 | : Thomas Liehr |
| Publisher | : Springer |
| Total Pages | : 201 |
| Release | : 2014-06-26 |
| Genre | : Medical |
| ISBN | : 3642552889 |
Download Uniparental Disomy (UPD) in Clinical Genetics Book in PDF, ePub and Kindle
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. McKinlay Gardner |
| Publisher | : Oxford University Press |
| Total Pages | : 729 |
| Release | : 2018-02-06 |
| Genre | : Medical |
| ISBN | : 019932901X |
Download Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling Book in PDF, ePub and Kindle
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 | : Rolf Ohlsson |
| Publisher | : Springer |
| Total Pages | : 352 |
| Release | : 1999-03-08 |
| Genre | : Medical |
| ISBN | : |
Download Genomic Imprinting Book in PDF, ePub and Kindle
This book provides an unrivalled in-depth treatise of genomic imprinting, a phenomenon which plays a vital role in many biological processes in developmental biology, evolution and human diseases and genetics. The reason for this broad range of influence derives from the fact that genomic imprinting shields a number of important genes from the full effects of Mendelian inheritance. The importance of this surprising observation, which was discovered less than two decades ago, has been only slowly recognized. The reason for this may be that genomic imprinting is a difficult concept to understand. This book aims at providing interesting, entertaining and detailed information for any scientist, irrespective of their particular field of study.
| Author | : R. Ohlsson |
| Publisher | : Cambridge University Press |
| Total Pages | : 188 |
| Release | : 1995-12-14 |
| Genre | : Medical |
| ISBN | : 9780521472432 |
Download Genomic Imprinting Book in PDF, ePub and Kindle
This significant new publication on genomic or parental imprinting has been prepared by an outstanding team of international authorities. Genomic imprinting results in the preferential expression of one allele, depending on the parent of origin. It is associated with several disease syndromes in humans. Interest in this area has expanded rapidly from the time when it was first recognised that some important hereditary characterisitics were not adequately explained by the Mendelian laws of inheritance. The chapters cover a wealth of material to help explain not only the mechanisms of genomic imprinting but its biological and medical consequences.
| Author | : Theodore Friedmann |
| Publisher | : Academic Press |
| Total Pages | : 203 |
| Release | : 2014-11-27 |
| Genre | : Science |
| ISBN | : 1483295575 |
Download Molecular Genetics Medicine Book in PDF, ePub and Kindle
Continuing to keep pace with progress in human molecular genetics, Volume 4 of Molecular Genetic Medicine reviews five new areas of critical importance. Chapter 1 reviews the molecular mechanisms that have beenunraveled in the pathogenesis of eye diseases. The second chapter explains the remarkable new principle if genomic imprinting, or epigenetic modification imposed by parental history. Chapter 3 describes the etiology of amyotrophic lateral sclerosis, or Lou Gehrig's Disease, as effected by superdioxide dismutase function and neuron degeneration. The fourth chapter covers the normal and aberrant functions of peroxisomes, now implicated in many diseases, most notably adrenoleukodystrophy, publicized widelyby the"cure"called Lorenzo's oil. The final chapter summarizes recombination techniques that permit functional new genetic material to be introduced into, and subsequently transmitted through, the germ line of mammalian cells. These amazing methods arehaving profound impacts on medicine and on concepts of the study of normal human development and disease. Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment Chronicles the continuing explosion of knowledge in molecular genetic medicine giving current approaches to understanding human illness Documents the revolution in human and molecular genetics leading to a new field of medicine
| Author | : Andrew Ward |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 381 |
| Release | : 2008-02-02 |
| Genre | : Medical |
| ISBN | : 1592592112 |
Download Genomic Imprinting Book in PDF, ePub and Kindle
Genomic imprinting is the process by which gene activity is regulated according to parent of origin. Usually, this means that either the maternally inherited or the paternally inherited allele of a gene is expressed while the opposite allele is repressed. The phenomenon is largely restricted to mammals and flowering plants and was first recognized at the level of whole genomes. Nuclear transplantation experiments carried out in mice in the late 1970s established the non-equivalence of the maternal and paternal genomes in mammals, and a similar conclusion was drawn from studies of interploidy crosses of flowering plants that extend back to at least the 1930s. Further mouse genetic studies, involving animals carrying balanced translocations (reviewed in Chapter 3), indicated that imprinted genes were likely to be widely scattered and would form a minority within the mammalian genome. The first imprinted genes were identified in the early 1990s; over forty are now known in mammals and the list continues steadily to expand.
| Author | : Trygve Tollefsbol |
| Publisher | : Academic Press |
| Total Pages | : 617 |
| Release | : 2012-07-26 |
| Genre | : Medical |
| ISBN | : 0123884160 |
Download Epigenetics in Human Disease Book in PDF, ePub and Kindle
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 |
Download Small Supernumerary Marker Chromosomes (sSMC) Book in PDF, ePub and Kindle
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.
