Download or read book Atlas of Human Chromosome Heteromorphisms written by H.E. Wyandt and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).
Download or read book Clinical Atlas of Human Chromosomes written by Jean de Grouchy and published by John Wiley & Sons. This book was released on 1984 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book An Atlas of Mammalian Chromosomes written by Tao C. Hsu and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Download or read book Atlas of Diagnostic Cytology written by Claude Gompel and published by Churchill Livingstone. This book was released on 1978 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Human Oocytes and Their Chromosomes written by B.-M. Uebele-Kallhardt and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 113 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last decade has seen remarkable advances in human ge netics. Once the correct chromosome number of the human genome was ascertained, a wide variety of diseases was rec ognized as due to numerical chromosome anomalies. There followed the discovery that spontaneous abortions are the result of chromosome errors, and specific band patterns of chromosomes allowed identification of minute lesions. The techniques of cell hybridization now allow specific gene assign ment to chromosomes and even to distinct loci on their arms. All this was possible because of the ease with which metaphase chromosomes can be obtained and manipulated. The much older technique of analysis of meiotic chromosomes has taken a back seat in this exciting era. Being much less readily accessi ble, spermatogonial analysis is much less frequently under taken and is less successful. Even more difficult for study is the female meiotic process. Not only is meiosis extraordinar ily long, spanning from before birth to ovulation, the tech niques for its study and the patience required for detailed inquiry have been significant obstacles. At the same time, the suspicion that female meiotic analysis should not only be rewarding but that it may be mandatory has been with us ever since it was recognized that a positive correlation exists between chromosomal nondisjunction and maternal age. Before the intricacies of chromosomal behavior that are re sponsible for nondisjunction are understood, however, it is necessary that we comprehend the normalcy of the process.
Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer Science & Business Media. This book was released on 2008-08-17 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday’s news, were once again “back in style. ” Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.
Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1971 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.
Download or read book Color Atlas of Genetics written by Eberhard Passarge and published by Thieme. This book was released on 2011-01-01 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: A remarkable achievement by a single author...concise but informative...No geneticist or physician interested in genetic diseases should be without a copy of this remarkable edition. --American Journal of Medical GeneticsMore than ever, a solid understanding of genetics is a fundamental element of all medical and scientific educational programs, across virtually all disciplines. And the applications--and implications--of genetic research are at the heart of current medical scientific debates. Completely updated and revised, The Color Atlas of Genetics is an invaluable guide for students of medicine and biology, clinicians, and anyone else interested in this rapidly evolving field. The latest edition of this highly praised atlas retains several popular features, such as the accessible layout and logical structure, in addition to many novel features and 20 completely new color plates on new topics, including: Cell-to-cell communication, including important signaling and metabolic pathways Taxonomy of living organisms (tree of life) Epigenetic modifications in chromatin Apoptosis RNA interference (RNAi) Comparative genomic hybridization Origins of cancer Principles of gene and stem cell therapy, etc. With more than 200 absorbing full-color plates concisely explained on facing pages, the atlas offers readers an easy-to-use, yet remarkably detailed guide to key molecular, theoretical, and medical aspects of genetics and genomics. Brief descriptions of numerous genetic diseases are included, with references for more detailed information.Readers will find that this incomparable book presents a comprehensive picture of the field from its fascinating history to its most advanced applications.
Download or read book New Interpretations of Ape and Human Ancestry written by Russell Ciochon and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 886 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
Download or read book The Nucleus written by and published by . This book was released on 1981 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 2013-06-29 with total page 842 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first edition of this book, published in 1979, was found useful by many stu dents and was well received by the scientific community. Since the book was first written, human genetics has undergone dramatic developments, mainly due to the introduction of new concepts and techniques from molecular biology. Con comitantly, "basic" scientists have become increasingly interested in problems of human genetics. More than 700 human genes have been mapped, genes of previ ously unsuspected complexity -such as the gene for factor VIII - have become known, and the structure of noncoding DNA sequences is being analyzed with the aim of understanding gene regulation. DNA diagnosis is being rapidly intro duced into medical genetics. All this, as well as the extensive progress in most other fields of human and medical genetics, had to be considered in the prepara tion of this second edition. The book has been extensively revised and rewritten. A substantial new section dealing with gene and chromosomal structure at the molecular level has been added. The newer knowledge of molecular genetics has been incorporated, and the conceptual and practical contribution of DNA methods (for example in the hemoglobinopathies and in some other diseases) is discussed. Many new figures and tables have been added, and some illustrative material has been replaced. We have read carefully the many friendly and sometimes flattering reviews of the first edition.
Download or read book Medaka written by Kiyoshi Naruse and published by Springer Science & Business Media. This book was released on 2011-05-30 with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oryzias latipes, known as medaka, is a model organism from East Asia. Breeding of this small, egg-laying freshwater teleost fish has long been popular among hobbyists in Japan. Now, as biological science has entered the genome era, the medaka provides significant advantages that make it one of the most valuable vertebrate models: a large collection of spontaneous mutants collected over a century, the presence of highly polymorphic inbred lines established over decades, and a recently completed genome sequence. This book is the first comprehensive monograph to cover a variety of medaka research. It opens with a historical view of medaka, followed by a series of research topics in the four major areas where the medaka is increasingly important: genomics, genetics, and resources; organogenesis and disease models; germ cells, sex determination, and reproduction; and evolution. Readers will find state-of-the-art information on medaka genetics and genomics such as the first isolation of active transposons in vertebrates, the influence of chromatin structure on sequence variation, fine QTL analysis, and versatile mutants as human disease models.
Download or read book Methods in Human Cytogenetics written by E. Passarge and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 389 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume was originally intended to be an English translation of the book MetllOden in der medizinischen Cytogenetik, published in 1970. Just about then, however, a number of new techniques were introduced in human cytogenetics and soon acquired the utmost importance, parti cularly in clinical diagnosis, so that the English edition had to be con siderably enlarged. As a result, there are now twelve chapters instead of eight, and two additional authors have been called upon, Dr. KRONE and Dr. SCHNEDL. In addition to the up-to-date presentation of con ventional methods of cell culture and techniques for the preparation and identification of human chromosomes, this text covers the various tech niques of producing banding patterns and applying them in chromo some identification. Further, it deals with the culture of amniotic fluid cells and gives instructions for handling tissue-culture cells for bio chemical analysis; it thus meets the ever-increasing requirements of a modern cell-culture laboratory. To paraphrase the aims of this book, we quote part of the preface to the German edition: "It was intended to collect the various methods so as to make them accessible for laboratory use. Furthermore, it is hoped that the reader faced with current research problems will be stimulated to modify and supplement the techniques described, instead of merely applying them automatically. In a rapidly developing field, some methods are still preliminary, and no final presentation seems possible.
Download or read book Human Chromosome Variation Heteromorphism Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Download or read book An Atlas of the Human Embryo and Fetus written by Jan E. Jirasek and published by CRC Press. This book was released on 2000-12-15 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt: With hundreds of original photographs, optical micrographs and scanning electron micrographs, this atlas describes the progress of the embryo throughout its development, highlighting the formation and differentiation of organ structures. From the preembryonic and embryo stages to the development of the skeleton and striated muscle, organogenesis of the heart, and development of external genitalia, it provides authoritative answers to the most frequently asked question about the human embryo. With its plethora of outstanding photographs and images, experienced embryologists as well as clinicians and students can compare historical ideas with photographic reality.
