Current Catalog
Current Catalog

Author: National Library of Medicine (U.S.)

Publisher:

Published: 1983

Total Pages: 1442

ISBN-13:

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First multi-year cumulation covers six years: 1965-70.

The Principles of Clinical Cytogenetics
The Principles of Clinical Cytogenetics

Author: Steven L. Gersen

Publisher: Springer Science & Business Media

Published: 2008-08-17

Total Pages: 589

ISBN-13: 1592598331

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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.

Genetic Analysis of the X Chromosome
Genetic Analysis of the X Chromosome

Author: Henry F. Epstein

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 217

ISBN-13: 1468443461

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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.

Beta Thalassemia
Beta Thalassemia

Author: Marwa Zakaria

Publisher: BoD – Books on Demand

Published: 2020-09-23

Total Pages: 176

ISBN-13: 1838805869

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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.

Neonatal Heart Disease
Neonatal Heart Disease

Author: Robert M. Freedom

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 877

ISBN-13: 1447118146

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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.

Problems of Birth Defects
Problems of Birth Defects

Author: T.V.N. Persaud

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 395

ISBN-13: 9401166218

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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.

Psychoneuroendocrinology
Psychoneuroendocrinology

Author: Clarissa S. Holmes

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 310

ISBN-13: 1461233062

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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.