Download Full eBooks in PDF
Early Diagnosis Of Human Genetic Defects Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Early Diagnosis Of Human Genetic Defects book. This book definitely worth reading, it is an incredibly well-written.
Author : Maureen Harris,Maureen I. Harris
Publisher : Unknown
Page : 248 pages
File Size : 41,9 Mb
Release : 1971
Category : Abnormalities, Human
ISBN : UOM:39015053084292
Author : Maureen Harris, Ph.D.; Editor
Publisher : Unknown
Page : 252 pages
File Size : 52,9 Mb
Release : 2024-06-30
Category : Electronic
ISBN : STANFORD:24501039918
Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 54,5 Mb
Release : 1994-01-01
Category : Medical
ISBN : 9780309047982
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author : National Institutes of Health
Publisher : Unknown
Page : 240 pages
File Size : 52,8 Mb
Release : 2005-01-01
Category : Medical
ISBN : 141021950X
CONTENTS Participants Welcoming Remarks Chairman's Introduction Amniocentesis: Techniques and Complications Practical Aspects of Early Diagnosis An Overview of Problems Arising from Amniocentesis Identification of the Defective Patient: Biochemical Techniques Massachusetts Metabolic Disorders Screening Program Cytogenetic Problems in Antenatal Diagnosis Screening for Inherited Traits: Perspectives Detection of Heterozygotes Risks in Amniocentesis Use of Amniotic Fluid and Reliability of Diagnostic Procedures Control Studies in the Antenatal Diagnosis of Human Genetic-Metabolic Disorders Counseling in Genetics Administration and Ethics The Law and the Unborn Child: A Brief Review of Emerging Problems Ethical Issues Resulting from Prenatal Diagnosis
Author : Maureen Harris
Publisher : Unknown
Page : 229 pages
File Size : 51,5 Mb
Release : 1971
Category : Electronic
ISBN : OCLC:14436334
Author : Maureen I. Harris
Publisher : Unknown
Page : 229 pages
File Size : 50,8 Mb
Release : 1972
Category : Abnormalities, Human
ISBN : OCLC:472936256
Author : Aubrey Milunsky
Publisher : Springer
Page : 924 pages
File Size : 46,6 Mb
Release : 2012-03-22
Category : Medical
ISBN : 146845157X
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
Author : Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme
Publisher : Oxford University Press, USA
Page : 561 pages
File Size : 54,7 Mb
Release : 2014
Category : Medical
ISBN : 9780199930975
Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.
Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
Page : 910 pages
File Size : 43,8 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781468451559
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
Author : Rob Elles
Publisher : Springer Science & Business Media
Page : 392 pages
File Size : 42,5 Mb
Release : 2008-02-01
Category : Medical
ISBN : 9781592594320
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Author : Thomas D. Gelehrter,Francis S. Collins,David Ginsburg
Publisher : Lippincott Williams & Wilkins
Page : 444 pages
File Size : 54,8 Mb
Release : 1998
Category : Medical
ISBN : 0683034456
Author : T.V.N. Persaud
Publisher : Springer Science & Business Media
Page : 257 pages
File Size : 44,7 Mb
Release : 2012-12-06
Category : Science
ISBN : 9789401166690
Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.
Author : L.N. Went,Chr. Vermeij-Keers,A.G.J.M. van der Linden
Publisher : Springer
Page : 0 pages
File Size : 51,7 Mb
Release : 1975-07-31
Category : Medical
ISBN : 9060212371
The present volume of the Boerhaave series intends to be a reflexion of our present knowledge in the expanding field of early diagnosis and prevention of inherited disorders. Early diagnosis can mean detection of a carrier state in one or both potential parents, detection of a specific inherited disease in a previously born child or during a pregnancy at risk, or during various stages of the life of an already born individual. The first chapters will discuss inherited disorders manifesting later in life. In Huntington's Chorea detection may be possible from the age of 20 or 30 onwards, while in myotonic dystrophy it will be seen that detection may be possible soon after birth. Retinoblastoma serves as example of a disease manifesting in early infancy and which is partially treatable by surgical intervention. The same early onset does occur in phenylketonuria and cystic fibrosis. Both diseases provide examples of the possibilities of population screening, while in phenylketonuria an eminently succesful treatment is found in a restricted diet. For the usually early manifesting sphingolipidoses no treatment exists as yet, but enzyme treatment might in the near future become a reality. Spina bifida and anencephaly are not simple inherited Mendelian dis orders but they are discussed in this volume because prevention is possible by antenatal diagnosis and subsequent interruption of the pregnancy if re quested by the future parents. Further views on antenatal diagnosis notably in inborn errors of metabolism are presented in a following chapter.
Author : B.A. Ponder,M.J. Waring
Publisher : Springer Science & Business Media
Page : 222 pages
File Size : 54,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789401106771
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Publisher : National Academies Press
Page : 385 pages
File Size : 53,8 Mb
Release : 2006-12-07
Category : Social Science
ISBN : 9780309101967
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
