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Genetic testing in the workplace : proceedings of the round table debate held at the Borchette Center, Brussels, 6 March 2000
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ISBN: 928940017X Year: 2000 Publisher: Luxembourg : Secretariat-General of the Commission,

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Guide des examens biologiques
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ISSN: 12981524 ISBN: 2757300105 Year: 2006 Publisher: Paris : Lamarre,

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Genome-wide association studies : from polymorphism to personalized medicine
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ISBN: 1316434990 1107337453 Year: 2016 Publisher: Cambridge : Cambridge University Press,

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Over the last twenty years, genome-wide association studies (GWAS) have revealed a great deal about the genetic basis of a wide range of complex diseases and they will undoubtedly continue to have a broad impact as we move to an era of personalised medicine. This authoritative text, written by leaders and innovators from both academia and industry, covers the basic science as well as the clinical, biotechnological and pharmaceutical potential of these methods. With special emphasis given to highlighting pharmacogenomics and population genomics studies using next-generation technology approaches, this is the first book devoted to combining association studies with single nucleotide polymorphisms, copy number variants, haplotypes and expressed quantitative trait loci. A reliable guide for newcomers to the field as well as for experienced scientists, this is a unique resource for anyone interested in how the revolutionary power of genomics can be applied to solve problems in complex disease.


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Noninvasive prenatal testing (NIPT) : applied genomics in prenatal screening and diagnosis
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ISBN: 0128141905 Year: 2018 Publisher: London : Academic Press,

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Genetic testing : accounts of autonomy, responsibility, and blame
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ISBN: 9780203891384 9780415474436 Year: 2011 Publisher: Abingdon : Routledge,

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"Advances in molecular genetics have led to the increasing availability of genetic testing for a variety of inherited disorders. While this new knowledge presents many obvious health benefits to prospective individuals and their families it also raises complex ethical and moral dilemmas for families as well as genetic professionals. This book explores the ways in which genetic testing generates not only probabilities of potential futures, but also enjoys new forms of social, individual and professional responsibility. Concerns about confidentiality and informed consent involving children, the assessment of competence and maturity, the ability to engage in shared decision-making through acts of disclosure and choice, are just some of the issues that are examined in detail"--Provided by publisher.

Prenatal diagnosis : the human side
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ISBN: 0412553600 9780412553608 1565932862 9781565932869 1489930272 Year: 1994 Publisher: London Chapman and Hall,

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The sociology of medical screening : critical perspectives, new directions
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ISBN: 9781118231784 Year: 2012 Publisher: Chichester : Wiley-Blackwell,

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"The Sociology of Medical Screening: Critical Perspectives, New Directions presents a series of readings that provide an up-to-date overview of the diverse sociological issues relating to population-based medical screening. Features new research data in most of the contributions. Includes contributions from eminent sociologists such as David Armstrong, Stefan Timmermans, and Alison Pilnick. Represents one of the only collections to specifically address the sociology of medical screening"--Provided by publisher.


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Neurogenetics
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ISBN: 0199394571 0199383901 019938391X Year: 2015 Publisher: Oxford, England : Oxford University Press,

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'Oxford Textbook Violence Prevention' brings together an international team of experts to provide an extensive global account of the global mortality and morbidity burden caused by violence through examining the causes of violence, and what can be done to prevent and reduce violence.


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Ethical dilemmas in genetics and genetic counseling : principles through case scenarios
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ISBN: 9780199944897 Year: 2015 Publisher: New-York : Oxford university press,

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Knowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conceptional, prenatal, and predictive testing. While new genetic testing offers better insight into the causes of and susceptibility for heritable diseases, not all inherited diseases that can be predicted on the basis of genetic information can be treated or cured. Should we test everyone who wants to know his or her genetic status, even when there are no possibilities for treatment? What is the role of the "right-not-to-know?" Do we test children for adult onset disorders because the parents just "have to know" or do we respect the children's right to choose when they are older ? Do we allow commercial companies to offer genetic tests directly to consumers without the proper oversight regarding what the test results will mean ? By using a creative approach that focuses on a single extended family as a case example to illustrate each chapter's key point, the authors elucidate ethical issues arising in the genetics clinic and laboratory surrounding many timely issues, including : prenatal and pre-implantation genetic diagnosis · assisted reproductive technologies · incidental findings in genetic testing · gene patenting · testing children for adult onset disorders · direct to consumer testing. Ethical Dilemmas in Genetic Counseling: Principles through Case Scenarios is essential reading for anyone interested in the ethical issues surfacing in common genetics practice. Written exclusively by genetic counselors, it makes a significant contribution to the field of ethics in genetics and thus will appeal not only to genetic counselors but to physicians, nurses, and all those concerned with bioethics and social science.

Mutation du facteur V Leiden
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Year: 2011 Publisher: Bruxelles : UCL,

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La mutation du facteur V Leiden est une anomalie génétique qui résulte d’une modification ponctuelle au niveau du gène codant pour ce facteur de coagulation. Celle-ci constitue un des facteurs de risque d’origine génétique le plus important pour la thrombophilie. Elle représente, dans le phénomène de l’hémostase, une forme de résistance à la protéine C activée. Les personnes qui l’expriment présentent donc un risque accru de développer, en présence d’autres facteurs prédisposant, une thrombose veineuse associée ou non à une embolie pulmonaire. Les tests qui sont utilisés pour le dépistage de cette mutation se font selon certains critères et non de manière systématique. On commencera d’abord par un test phénotypique de résistance à la protéine C activée et seulement si celui-ci se révèle positif, un test génétique pourra être envisagé pour confirmer le diagnostic et déterminer le caractère homozygote ou hétérozygote de l’individu. Le traitement des maladies thromboemboliques sera semblable à celui recommandé en l’absence de la mutation. Un traitement préventif contre ces maladies est contre-indiqué sauf dans certains cas où l’on conseillera la prise de médicaments anticoagulants à moyen/long terme. The V Leiden factor mutation is a genetic abnormality resulting of a punctual modification at the level of the gene coding for this factor of coagulation. This one constitutes one of the most important risk factors of genetic origin for thrombophilia. It represents, in the phenomenon of the haemostasis, a form of resistance to the activated protein C. So the persons who express it present a greater risk of developing, in the presence of the other predisposing factors, a venous thrombosis associated or unassociated with a pulmonary embolism. The tests that are used for the screening of this mutation are made according to certain criteria and not in a systematic way. We shall begin at first with a phenotypic test who is an activated protein C resistance one. If this one is positive, a genetic test can be considered to confirm the diagnosis and determine the homozygous or heterozygous character of the individual. The treatment of the venous thromboembolic diseases will be similar to the recommended one in the absence of the mutation. A preventive treatment against these diseases is cons-indicated except in certain cases where we shah recommend the taking of anticoagulants medicines during middle/long term

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