Catalogue of Unbalanced Chromosome Aberrations in Man PDF Download
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Author: Albert Schinzel
Publisher: Walter de Gruyter GmbH & Co KG
ISBN: 311232904X
Category : Medical
Languages : en
Pages : 936
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Book Description
No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".
Author: Albert Schinzel
Publisher: Walter de Gruyter GmbH & Co KG
ISBN: 311232904X
Category : Medical
Languages : en
Pages : 936
Get Book Here
Book Description
No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".
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: Eeva Therman
Publisher: Springer Science & Business Media
ISBN: 1468405292
Category : Science
Languages : en
Pages : 392
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Book Description
This book, like the two previous editions, was written as an introduction to human cytogenetics, but it could also be used as a text for a general cytogenetics course, since chromosome structure and behavior are similar in all eukaryotes. Many examples in this book are from organisms other than humans, reflecting our combined backgrounds of molecular and bacterial genetics, and plant and animal cytogenetics. In the rapidly expanding field of human cytogenetics, certain subjects, for instance clinical and cancer cytogenetics, are now covered in recently published, thousand-page volumes. In this book, such subjects are presented only in outline. The enormous growth of information has also made the choice of topics and of examples to illustrate them even more arbitrary and subjective than in the previous editions. Apart from a few pages here and there, the text has been rewritten. Major parts, especially those on molecular matters, have been added. This book would not exist without the dedicated participation of Mrs. Barbara Susman. She has been involved in the project from the planning stages to the final proofreading. She has done the extensive literature research, designed most of the tables and illustrations, and edited and typed the text. For discussions and suggestions we are indebted to many colleagues. We wish especially to mention Drs. Lassi Alvesalo, Evelyn M. Kuhn, and Renata Laxova, who have critically read selected parts of the book, and Dr. Carter Denniston, who has read the whole text.
Author: Claudia Behrend
Publisher: Springer Nature
ISBN: 3031105885
Category : Medical
Languages : en
Pages : 385
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Book Description
Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III show the spectrum of different types of chromosomal abnormalities by a combination of karyogram and ideogram. They compare the significance of different banding techniques, give the karyotype formula and describe morphological peculiarities of each case presented. The final part provides a detailed description of non-coding DNA variants and focuses on potential problems in the detection of aberrations. It also mentions necessary additional investigations and peculiarities to be considered when counselling carriers of a chromosomal aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
Author: Florian Lang
Publisher: Springer Science & Business Media
ISBN: 3540671366
Category : Science
Languages : en
Pages : 2348
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Book Description
This comprehensive encyclopedia supplies the reader with concise information on the molecular pathophysiology of disease. Entries include defined diseases (such as Parkinson's disease) as well as pathophysiological entities (such as tremor). The 1,200 essays are brilliantly structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by up to five references. Individual entries are written by leading experts in the respective area of research to ensure state-of-the-art descriptions of the mechanisms involved. It is an invaluable companion for clinicians and scientists in all medical disciplines.
Author: T. Yee Khong
Publisher: Springer Nature
ISBN: 3030841685
Category : Medical
Languages : en
Pages : 918
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Book Description
This sixth edition provides an overview of fetal and neonatal pathology through a system-based approach. This book contains new chapters on immunology, with a continued focus on molecular aspects of pathology in the perinatal setting. The general principles of perinatal pathology and their clinical situations are also discussed, along with specific pathological entities and their organ systems. Keeling’s Fetal and Neonatal Pathology, sixth edition aims to help the reader treat common problems through anatomical pathology findings and is relevant to practicing and trainee pathologists, obstetricians, maternal and fetal medicine specialists, neonatologists, and pediatricians.
Author: Harry Harris
Publisher: Springer Science & Business Media
ISBN: 1475790627
Category : Medical
Languages : en
Pages : 283
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Book Description
From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
Author: Patricia Y. Fechner
Publisher: Springer Nature
ISBN: 303034150X
Category : Medical
Languages : en
Pages : 280
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Book Description
Comprehensive and practical, this is a unique and multidisciplinary resource for the clinician caring for the girl or woman with Turner syndrome. Although approximately one in 2000 women are affected, many have not been diagnosed; as the advent of prenatal genetic testing becomes more prevalent, the diagnosis of Turner syndrome will be made much more frequently. There is therefore a greater need for this single source that provides the clinician with the information required to care for this multifaceted disorder. The opening chapters discuss the biology, genetics and current standard of care for females with Turner syndrome in order to provide proper background and context for the remaining chapters. The main section of the book, taking a body system approach, is comprised of chapters written by an expert in his or her subspecialty and will discuss pathophysiology and diagnosis, as well as therapeutic options. Reproductive, cardiac, renal, endocrine, neurologic, musculoskeletal, and sensory issues and symptoms associated with Turner syndrome are all covered in detail. Additional chapters describe current resources available to both caregiver and patient as well as future directions for research and management. Currently, there are no similar books on the market that take an all-inclusive, multidisciplinary approach in the care of individuals with Turner syndrome. As such, this book should be the standard of care for management of this challenging and multifaceted condition.
Author: Peter Singer
Publisher: Cambridge University Press
ISBN: 9780521435888
Category : Medical
Languages : en
Pages : 284
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Book Description
New developments in reproductive technology have made headlines since the birth of the world's first in vitro fertilization baby in 1978. But is embryo experimentation ethically acceptable? What is the moral status of the early human embryo? And how should a democratic society deal with so controversial an issue, where conflicting views are based on differing religious and philosophical positions? These controversial questions are the subject of this book, which, as a current compendium of ideas and arguments on the subject, makes an original contribution of major importance to this debate. Peter Singer is the author of many books, including Practical Ethics (CUP, 1979), Marx (Hill & Wang, 1980), and Should the Baby Live? (co-authored with Helga Kuhse, Oxford U.P., 1986).
Author: Homa Adle-Biassette
Publisher: John Wiley & Sons
ISBN: 1119013097
Category : Medical
Languages : en
Pages : 564
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Book Description
A definitive, clinically oriented guide to the pathology of genetics of developmental neuropathology Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre- and post-natal life, with emphasis on the genetic and molecular mechanisms involved. This book provides a practical guide to diagnosing and understanding these disorders affecting this vulnerable population and potentially stimulates further advances in this exciting area. It also addresses the controversies in inflicted head injury in infants. The fourth major title to be approved by the International Society of Neuropathology (ISN), Developmental Neuropathology offers in-depth chapter coverage of brain development; chromosomal changes; malformations; secondary malformations and destructive pathologies; developmental vascular disorders; acquired metabolic and exogenous toxins; metabolic disorders; Rett syndrome and autism; and infectious diseases. The text provides: Clinical, disease-oriented approach to the pathology and genetics developmental neuropathology Fuses classical and contemporary investigative approaches Includes genetic and molecular biological pathogeneses Fully illustrated Approved and endorsed by International Society of Neuropathology Developmental Neuropathology is the perfect book for practicing neuropathologists, pediatric pathologists, general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.
