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Author : Albert Schinzel
Publisher :
ISBN 13 : 9780899254500
Total Pages : 913 pages
Book Rating : 4.2/5 (545 download)
Download or read book Catalogue of Unbalanced Chromosome Aberrations in Man written by Albert Schinzel and published by . This book was released on 1983-11 with total page 913 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Albert Schinzel
Publisher : Walter de Gruyter GmbH & Co KG
ISBN 13 : 311232904X
Total Pages : 936 pages
Book Rating : 4.1/5 (123 download)
Download or read book Catalogue of Unbalanced Chromosome Aberrations in Man written by Albert Schinzel and published by Walter de Gruyter GmbH & Co KG. This book was released on 2020-10-26 with total page 936 pages. Available in PDF, EPUB and Kindle. Book excerpt: No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".
Author : Felix Mitelman
Publisher :
ISBN 13 :
Total Pages : 516 pages
Book Rating : 4.:/5 (898 download)
Download or read book Catalogue of Chromosome Aberrations in Cancer written by Felix Mitelman and published by . This book was released on 1983 with total page 516 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher :
ISBN 13 :
Total Pages : 707 pages
Book Rating : 4.:/5 (12 download)
Download or read book Catalogue of Chromosome Aberrations in Cancer written by and published by . This book was released on 1985 with total page 707 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Guy T. Leyden
Publisher : Nova Publishers
ISBN 13 : 9781604563443
Total Pages : 314 pages
Book Rating : 4.5/5 (634 download)
Download or read book Genetic Translocations and Other Chromosome Aberrations written by Guy T. Leyden and published by Nova Publishers. This book was released on 2008 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomal aberrations are disruptions in the normal chromosomal content of a cell, and are a major cause of genetic conditions in humans, such as Down syndrome. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of having a child with a chromosome disorder. Abnormal numbers of chromosomes or chromosome sets, aneuploidy, may be lethal or give rise to genetic disorders. Genetic counseling is offered for families that may carry a chromosome rearrangement. This book offers leading-edge research from around the world.
Author : Felix Mitelman
Publisher :
ISBN 13 : 9780845142486
Total Pages : 1146 pages
Book Rating : 4.1/5 (424 download)
Download or read book Catalog of Chromosome Aberrations in Cancer written by Felix Mitelman and published by . This book was released on 1988-01-01 with total page 1146 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Digamber S. Borgaonkar
Publisher :
ISBN 13 :
Total Pages : 268 pages
Book Rating : 4.3/5 (91 download)
Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by . This book was released on 1975 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 1200 entries to literature (mostly English-language journal articles). Intended for human cytogeneticists. Sources were Current contents, various genetics journals from 1970 to the present, and Excerpta medica and Index medicus for afew earlier references. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosomal breakage syndromes. Author, selected syndrome indexes.
Author : P.H. Vogt
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3318060984
Total Pages : 178 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 178 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 : 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. M. 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. M. 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: Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012.
Author : Enid Gilbert-Barness
Publisher : Elsevier Health Sciences
ISBN 13 : 0323076165
Total Pages : 2444 pages
Book Rating : 4.3/5 (23 download)
Download or read book Potter's Pathology of the Fetus and Infant E-Book written by Enid Gilbert-Barness and published by Elsevier Health Sciences. This book was released on 2007-04-27 with total page 2444 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive reference addresses all aspects of fetal and neonatal pathology, including complicated pregnancies, multiple pregnancies, abortion, placental pathology, and disorders affecting the full-term neonate. A consistent organization allows for quick access to specific guidance, and nearly 2,500 illustrations - 2,350 in full color - depict conditions and abnormalities as they present in practice, facilitating diagnosis. An Image Bank on CD-ROM - new to this edition - features all of the illustrations from the 2-volume set, downloadable for presentations. Offers comprehensive coverage of all common and rare embryonic, fetal, and infant disorders in one source. Correlates clinical, pathologic, and genetic findings for each systemic disease. Emphasizes the genetic and molecular basis of birth defects. Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. Provides the latest guidance on molecular pathology, immunohistochemistry, DNA technology, and more. Offers an expanded discussion of developmental biology related to the pathogenesis of birth defects. Features user-friendly summary tables and diagnostic flow charts, making information quick and easy to find. Includes a CD-ROM featuring all of the illustrations from the 2-volume set.
Author : Aubrey Milunsky
Publisher : John Wiley & Sons
ISBN 13 : 1444358219
Total Pages : 1494 pages
Book Rating : 4.4/5 (443 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 2011-09-07 with total page 1494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.
Author : Claudia Behrend
Publisher : Springer
ISBN 13 : 3319540998
Total Pages : 210 pages
Book Rating : 4.3/5 (195 download)
Download or read book Human Chromosome Atlas written by Claudia Behrend and published by Springer. This book was released on 2017-07-06 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Author : Eeva Therman
Publisher : Springer Science & Business Media
ISBN 13 : 1468401076
Total Pages : 247 pages
Book Rating : 4.4/5 (684 download)
Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.
Author : Friedrich Vogel
Publisher : Springer Science & Business Media
ISBN 13 : 3662033569
Total Pages : 871 pages
Book Rating : 4.6/5 (62 download)
Download or read book Vogel and Motulsky's Human Genetics written by Friedrich Vogel and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 871 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first two editions of this book, published in 1979 and in 1986, were well re ceived by the scientific community. Translations into Italian, Japanese, and Rus sian suggest that this book was regarded useful in many parts of the world. Mean while, human genetics has seen dramatic developments, and the "molecular revo lution" has attracted thousands of scientists, including many molecular biologists, to this field. About 3700 human genes have already been mapped to chromosomal sites. Many such genes have been cloned, and the various mutations causing dis ease have been identified. Novel mutational mechanisms such as expanded trinu cleotide repeats have been discovered in conditions such as Huntington's disease and the fragile X syndrome of mental retardation. Gene action now can often be elucidated by studying the pathway from gene to phenotype following positional cloning rather than working in the opposite direction, as was customarily done be fore the tools of "new genetics" were available. In an increasing number of genetic diseases, the pathogenic mechanisms have been elucidated with positive conse quences for prevention and treatment. It therefore became necessary to rewrite al most completely major portions of this book. These developments are now making genetics arguably the leading basic science for medicine, as well as a recognized medical speciality. But all these changes do not mean that the entire framework of human genetics had to be reconstructed.
Author : Susan Mahler Zneimer
Publisher : John Wiley & Sons
ISBN 13 : 1118912497
Total Pages : 672 pages
Book Rating : 4.1/5 (189 download)
Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-09-22 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases
Author : Jack J. Pasternak
Publisher : John Wiley & Sons
ISBN 13 : 047171917X
Total Pages : 656 pages
Book Rating : 4.4/5 (717 download)
Download or read book An Introduction to Human Molecular Genetics written by Jack J. Pasternak and published by John Wiley & Sons. This book was released on 2005-06-14 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.
