Download or read book Birth Defects Original Article Series written by and published by . This book was released on 1988 with total page 632 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Genetics of Hand Malformations written by Samia A. Temtamy and published by Alan R. Liss. This book was released on 1978 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1983 with total page 1442 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.
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 with total page 1028 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Catalog of Copyright Entries Third Series written by Library of Congress. Copyright Office and published by Copyright Office, Library of Congress. This book was released on 1979 with total page 1914 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Problems of Birth Defects written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 395 pages. Available in PDF, EPUB and Kindle. Book excerpt: Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
Download or read book The Troubled Dream of Genetic Medicine written by Keith Wailoo and published by JHU Press. This book was released on 2006-05-29 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt: Winner of the History of Science category of the Professional and Scholarly Publishing Awards given by the Association of American Publishers Why do racial and ethnic controversies become attached, as they often do, to discussions of modern genetics? How do theories about genetic difference become entangled with political debates about cultural and group differences in America? Such issues are a conspicuous part of the histories of three hereditary diseases: Tay-Sachs, commonly identified with Jewish Americans; cystic fibrosis, often labeled a "Caucasian" disease; and sickle cell disease, widely associated with African Americans. In this captivating account, historians Keith Wailoo and Stephen Pemberton reveal how these diseases—fraught with ethnic and racial meanings for many Americans—became objects of biological fascination and crucibles of social debate. Peering behind the headlines of breakthrough treatments and coming cures, they tell a complex story: about different kinds of suffering and faith, about unequal access to the promises and perils of modern medicine, and about how Americans consume innovation and how they come to believe in, or resist, the notion of imminent medical breakthroughs. With Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.
Download or read book Parkinson s Disease Related Disorders Cumulative Bibliography 1800 1970 Citations written by Parkinson's Disease Information and Research Center (New York, N.Y.) and published by . This book was released on 1971 with total page 760 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Parkinson s Disease and Related Disorders written by United States National Institute of Neurologiacal Diseases and Stroke and published by . This book was released on 1971 with total page 772 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book ISCN 1995 written by Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 1995-01-01 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication combines and extends the now classic system of human cytogenetic nomenclature that has been prepared by expert committees and published in, or in collaboration with, Cytogenetics and Cell Genetics since 1963. The current ISCN committee and its advisors finalized the report at a meeting in Memphis, Tennessee in October 1994. It updates, corrects and combines all previous human cytogenetic nomenclature recommendations into one systematically organized publication. ISCN 1995 includes, supersedes, and reorganizes the previous compilation in ISCN 1985 and its supplement, ISCN 1991, the Guidelines for Cancer Cytogenetics. Also, some minor inconsistencies of the previous compilations are corrected and clarified.
Download or read book ISCN 2013 written by International Standing Committee on Human Cytogenetic Nomenclature and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.
Download or read book ISCN 2005 written by Lisa G. Shaffer and published by Karger Medical and Scientific Publishers. This book was released on 2005-01-01 with total page 137 pages. Available in PDF, EPUB and Kindle. Book excerpt: This publication combines and extends the now classic system of human cytogenetic nomenclature prepared by expert committees and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics ) since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, BC, in December 2004, it updates, corrects and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication. It thus supersedes the previous compilations in ISCN 1985 and its supplement, ISCN 1991 , the Guidelines for Cancer Cytogenetics , and ISCN 1995 . What s new in ISCN 2005? the G- and R-banded karyotypes have been replaced by new ones reflecting higher band-level resolutions new ideograms at the 300-band and 700-band level have been added the in situ hybridization nomenclature has been modernized, simplified, and expanded new examples reflecting unique situations are included a basic nomenclature for recording array comparative genomic hybridization results is introduced ISCN 2005 also contains a detachable fold-out of the normal human karyotype, consisting of photographs of G-banded and R-banded chromosomes at the commonly examined 550-band resolution stage and their diagrammatic representations a useful aid for human cytogeneticists, technicians, and students.
Download or read book Genetic Analysis of the X Chromosome written by Henry F. Epstein and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: The present volume contains the edited transcript of a collo quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to share needed cell lines and endonuclease restriction enzymes and to organize interlaboratory communication and collaborative efforts to accelerate progress in the quest for the genetic lesion in Duchenne muscular dystrophy. The discussions were recorded, transcribed, edited and to some extent, rearranged to fit into a sequence of chapters. The editors are grateful to Joy Colarusso Lowe whose unusual skill, patience and persistence made it possible to convert a highly specialized technical discussion into a coherent manuscript.
Download or read book Beta Thalassemia written by Marwa Zakaria and published by BoD – Books on Demand. This book was released on 2020-09-23 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: Beta thalassemia is a common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. This book covers most of the aspects related to this disease and greatly helps in understanding this disease and its complications. Of interest are clinical studies as well as basic and translational research reports regarding pathogenesis, genetics, diagnosis as well as standard and novel therapies. This book intends to provide the reader with a comprehensive overview of today’s practices and tomorrow’s possibilities about beta thalassemia.
Download or read book Neonatal Heart Disease written by Robert M. Freedom and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 877 pages. Available in PDF, EPUB and Kindle. Book excerpt: As pediatric cardiology becomes more and more neonatal cardiology and even fetal cardiology, Neonatal Heart Disease by Robert M. Freedom, MO, Leland N. Benson, MD, and Jeffrey F. Smallhorn, MB is extraordinarily timely. Neonatal Heart Disease consists of 50 chapters by 25 distinguished contributors and is a worthy successor to The Neonate With Congenital Heart Disease by Richard D. Rowe, MD and his colleagues (1968 and 1981). The first ~dition of this book in 1968 established Richard D. Rowe, MD as the father of neonatal cardiology. As most pediatric cardiologists now know, Dick Rowe died on January 18, 1988 after a brief illness. It will therefore come as no surprise that the present volume is dedicated to this great and gentle man. Nor will it come as a surprise that I have been asked to devote this Foreword to Richard D. Rowe, MD, pioneering neonatal cardiologist and incomparable personal friend. What can one say about Dick Rowe? Well, there are at least two very different tales. There is Dick Rowe the public man -the factual account of Dick Rowe's achievements as a physician, educator, and research man - the Dick Rowe that virtually "everyone" knows. And then there is Dick Rowe the private man -the extraordinary human being who only his personal friends were privileged to know. I shall try to tell something of both stories. First, the public man - the factual account - is really quite amazing.
Download or read book Psychoneuroendocrinology written by Clarissa S. Holmes and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: more intuitive study to greater empiricism. Frequently, chapters are di vided into discrete sections to discuss each rather distinct era of inquiry. This approach, when used, can provide a valuable historical overview of the early clinical formulations about each disease. Even though many of the earlier research philosophies and techniques may seem so simplistic as to mitigate against their inclusion, early research hypotheses were often generated from astute observation of clinical findings and relationships. In addition to shaping later empirical questions, a review of historical ante cedents provides a yardstick by which to measure the progress of more current studies, even though much is yet to be learned. As is true of any refinement of knowledge, the juxtaposition of the two approaches of study reveals that some of the early postulations about patient attributes and disease consequences have been confirmed, while other suppositions have been discarded. Although the generally subjective assessment methods used in the early studies may not have provided an optimal data base, it is interesting to note which clinical impressions were able to withstand greater empirical rigor and which were not. The book at its inception was intended to provide a succinct introduc tion to psychoneuroendocrinology research for practitioners and scientists who might be relatively unfamiliar with the area. However, it quickly became apparent that the sophistication of the information could not be readily reduced without vast oversimplification and loss of substance.
