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Author : Sabine Stengel-Rutkowski
Publisher :
ISBN 13 : 9782704612482
Total Pages : 147 pages
Book Rating : 4.6/5 (124 download)
Download or read book Risk Estimates in Balanced Parental Reciprocal Translocations written by Sabine Stengel-Rutkowski and published by . This book was released on 1988 with total page 147 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Ian D. Young
Publisher : Oxford University Press, USA
ISBN 13 : 0195305272
Total Pages : 252 pages
Book Rating : 4.1/5 (953 download)
Download or read book Introduction to Risk Calculation in Genetic Counseling written by Ian D. Young and published by Oxford University Press, USA. This book was released on 2007 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: In third edition of this clear, reader-friendly guide, the author addresses the challenge of calculations in genetic counseling and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and "key points" in order to guide the reader to an accurate assessment of the risk of genetic disease.
Author : Aubrey Milunsky
Publisher : John Wiley & Sons
ISBN 13 : 1119676975
Total Pages : 1392 pages
Book Rating : 4.1/5 (196 download)
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2021-03-30 with total page 1392 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--
Author : R.J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 019932901X
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)
Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : R.J. MKinlay Gardner
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
ISBN 13 : 0199329001
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)
Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Ian D. Young
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 174 pages
Book Rating : 4.3/5 (91 download)
Download or read book Introduction to Risk Calculation in Genetic Counselling written by Ian D. Young and published by Oxford University Press, USA. This book was released on 1991 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : R. J. M. Gardner
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 504 pages
Book Rating : 4.3/5 (91 download)
Download or read book Chromosome Abnormalities and Genetic Counseling written by R. J. M. Gardner and published by Oxford University Press, USA. This book was released on 1996 with total page 504 pages. Available in PDF, EPUB and Kindle. Book excerpt: There have been many advances in clinical cytogenetics since the first edition of this book appeared in 1989. The authors have written more expansively on segregation and risks in reciprocal translocations, X-autosome translocations, inversions, insertions, and prenatal diagnosis. The deletion syndromes have become more numerous, and more precisely defined, and this required treatment. Fluorescence in situ hybridization has become a routinely applied methodology, and its use has extended the power, and increased the sophistication, of the discipline of clinical cytogenetics. The Human Genome Project is unravelling the complexity of our genetic inheritance, and readers will find evidence of its impact on the practicalities of human cytogenetics throughout the book. Two phrases not used at all in the first edition are dynamic mutation and genomic imprinting. The fragile X syndrome now has the status of the prototypical dynamic mutation. The authors completely rewrote this chapter, giving it a much more molecular character. The Prader-Willi and Angelman syndromes, likewise, have become the classic examples of genomic imprinting and uniparental disomy. Compared with the tentative comments on these syndromes in the first edition, they now receive more extensive treatment. Yet, while the subject has become more complicated, the book's aim remains the same; to furnish a straightforward scientific description that will help readers understand the various chromosome abnormalities encountered in clinical practice, and to provide practical advice that can be passed on to the people who have, or whose families have, these abnormalities.
Author : Yu Zhang
Publisher : Springer
ISBN 13 : 9811305935
Total Pages : 171 pages
Book Rating : 4.8/5 (113 download)
Download or read book Chromosome Translocation written by Yu Zhang and published by Springer. This book was released on 2018-06-28 with total page 171 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases. The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation. It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases.
Author : National Research Council
Publisher : National Academies
ISBN 13 : 0309039959
Total Pages : 436 pages
Book Rating : 4.3/5 (9 download)
Download or read book Health Effects of Exposure to Low Levels of Ionizing Radiation written by National Research Council and published by National Academies. This book was released on 1990-02-01 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.
Author : R. J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 0199725241
Total Pages : 596 pages
Book Rating : 4.1/5 (997 download)
Download or read book Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2003-08-28 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309045371
Total Pages : 524 pages
Book Rating : 4.3/5 (9 download)
Download or read book The Children of Atomic Bomb Survivors written by National Research Council and published by National Academies Press. This book was released on 1991-02-01 with total page 524 pages. Available in PDF, EPUB and Kindle. Book excerpt: Do persons exposed to radiation suffer genetic effects that threaten their yet-to-be-born children? Researchers are concluding that the genetic risks of radiation are less than previously thought. This finding is explored in this volume about the children of atomic bomb survivors in Hiroshima and Nagasakiâ€"the population that can provide the greatest insight into this critical issue. Assembled here for the first time are papers representing more than 40 years of research. These documents reveal key results related to radiation's effects on pregnancy termination, sex ratio, congenital defects, and early mortality of children. Edited by two of the principal architects of the studies, J. V. Neel and W. J. Schull, the volume also offers an important comparison with studies of the genetic effects of radiation on mice. The wealth of technical details will be immediately useful to geneticists and other specialists. Policymakers will be interested in the overall conclusions and discussion of future studies.
Author : Art Daniel
Publisher :
ISBN 13 :
Total Pages : 954 pages
Book Rating : 4.3/5 (91 download)
Download or read book The Cytogenetics of Mammalian Autosomal Rearrangements written by Art Daniel and published by . This book was released on 1988 with total page 954 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Hon Fong L. Mark
Publisher : CRC Press
ISBN 13 : 1482292998
Total Pages : 703 pages
Book Rating : 4.4/5 (822 download)
Download or read book Medical Cytogenetics written by Hon Fong L. Mark and published by CRC Press. This book was released on 2000-04-11 with total page 703 pages. Available in PDF, EPUB and Kindle. Book excerpt: The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists prepar
Author :
Publisher :
ISBN 13 :
Total Pages : 832 pages
Book Rating : 4.:/5 ( download)
Download or read book Abstracts written by and published by . This book was released on 1986 with total page 832 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : P.H. Vogt
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318060984
Total Pages : 190 pages
Book Rating : 4.3/5 (18 download)
Download or read book Genetics of Human Infertility written by P.H. Vogt and published by Karger Medical and Scientific Publishers. This book was released on 2017-09-12 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.
Author : D. J. H. Brock
Publisher :
ISBN 13 :
Total Pages : 824 pages
Book Rating : 4.3/5 (91 download)
Download or read book Prenatal Diagnosis and Screening written by D. J. H. Brock and published by . This book was released on 1992 with total page 824 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prenatal diagnosis is the most important and fast moving area in obstetrics. This important new title is intended to become the definitive international book on the subject. Features: * Strong editorial team - offering a combination of geneticist and obstetrician * Both editors are of renowned international standing * Expert contributors from the UK, USA, Europe and Australia * Final chapter will summarise the major developments in the field - cross-referenced to and from the relevant chapters * Current, in-depth coverage of prenatal diagnosis
