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Benchmarks for Cyst...
Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
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Castellani, Carlo (author)
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Macek, Milan, Jr. (author)
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Cassiman, Jean-Jacques (author)
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Duff, Alistair (author)
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Massie, John (author)
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ten Kate, Leo P. (author)
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Barton, David (author)
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Cutting, Garry (author)
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Dallapiccola, Bruno (author)
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Dequeker, Elisabeth (author)
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Girodon, Emmanuelle (author)
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Grody, Wayne (author)
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Highsmith, Edward W. (author)
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Kaariainen, Helenal (author)
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Kruip, Stephan (author)
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Morris, Michael (author)
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Pignatti, Pier Franco (author)
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Pypops, Ulrike (author)
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Schwarz, Martin (author)
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- Soller, Maria (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Stuhrman, Manfred (author)
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Cuppens, Harry (author)
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(creator_code:org_t)
- Elsevier BV, 2010
- 2010
- English.
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In: Journal of Cystic Fibrosis. - : Elsevier BV. - 1873-5010 .- 1569-1993. ; 9:3, s. 165-178
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http://dx.doi.org/10...
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http://www.cysticfib...
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Abstract
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- This paper presents an overview of the conclusions from an international conference convened to address current issues related to the provision of Cystic Fibrosis carrier screening within Europe. Consensus was not aimed at stating whether such a programme should be implemented. Instead the focus was to provide a framework for countries and agencies who are considering or planning its establishment. The general principles and target population of Cystic Fibrosis carrier screening, advantages and disadvantages, health economics, monitoring and future evaluative and research directions were covered. A range of screening strategies have been assessed and compared: pre-conceptional and prenatal screening; individual and couple screening; sequential and simultaneous sampling or testing. Furthermore, technical issues were examined with respect to the choice of the panel of mutations, its detection rate, sensitivity, management of intermediate 'at-risk' couples, screening approach to different populations and ethnic minorities, and assurance of laboratory quality control. The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- testing
- Carrier screening
- Genetic analysis
- Cystic Fibrosis
- CFTR
- Carrier
Publication and Content Type
- for (subject category)
- ref (subject category)
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- By the author/editor
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Castellani, Carl ...
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Macek, Milan, Jr ...
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Cassiman, Jean-J ...
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Duff, Alistair
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Massie, John
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ten Kate, Leo P.
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show more...
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Barton, David
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Cutting, Garry
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Dallapiccola, Br ...
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Dequeker, Elisab ...
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Girodon, Emmanue ...
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Grody, Wayne
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Highsmith, Edwar ...
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Kaariainen, Hele ...
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Kruip, Stephan
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Morris, Michael
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Pignatti, Pier F ...
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Pypops, Ulrike
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Schwarz, Martin
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Soller, Maria
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Stuhrman, Manfre ...
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Cuppens, Harry
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of Cysti ...
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Lund University