Author: Sabine Stengel-Rutkowski
Publisher:
ISBN: 9782704612482
Category : Translocation (Genetics)
Languages : en
Pages : 147

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Book Description

Author: Ian D. Young
Publisher: Oxford University Press, USA
ISBN: 0195305272
Category : Mathematics
Languages : en
Pages : 252

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Book Description
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: R. J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 0199329001
Category : Medical
Languages : en
Pages : 729

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Book Description
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: 0195375335
Category : Medical
Languages : en
Pages : 650

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Book Description
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: Aubrey Milunsky
Publisher: John Wiley & Sons
ISBN: 1119676932
Category : Science
Languages : en
Pages : 1394

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Book Description
Explore the latest edition of the definitive resource on prenatal genetic diagnosis In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world. In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field The eighth edition also contains: A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.

Author: National Research Council
Publisher: National Academies Press
ISBN: 0309045371
Category : Science
Languages : en
Pages : 524

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Book Description
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: Yu Zhang
Publisher: Springer
ISBN: 9811305935
Category : Medical
Languages : en
Pages : 171

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Book Description
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: David K. James
Publisher:
ISBN: 9780702026782
Category : Pregnancy
Languages : en
Pages : 1434

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Book Description
A practical textbook for clinicians seeking advice on either how to manage a patient or how to perform a procedure within maternal-foetal medicine. This third edition strengthens the evidence base of each chapter with a clear section on evidence supporting different management options.

Author: Ian D. Young
Publisher: Oxford University Press, USA
ISBN:
Category : Mathematics
Languages : en
Pages : 174

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Book Description

Author: Sean Kehoe
Publisher: RCOG
ISBN: 1906985162
Category : Medical
Languages : en
Pages : 245

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Book Description
This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.