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- Creighton, S, et al.
(författare)
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Predictive, pre-natal and diagnostic genetic testing for Huntington's disease : the experience in Canada from 1987 to 2000.
- 2003
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Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 63:6, s. 462-75
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Tidskriftsartikel (refereegranskat)abstract
- Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre-natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre-natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre-natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at-risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at < or = 25% risk sought predictive testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre-natal tests were requested. Of the 15 pre-natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD-like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known prior family history of HD.
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| 2. |
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| 3. |
- Tortora, P., et al.
(författare)
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AWARDS: Advanced microwave radiometers for deep space stations
- 2013
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Ingår i: Space Communications. - 0924-8625 .- 1875-9211. ; 22:2-4, s. 159-170
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study, named AWARDS (Advanced microWAve Radiometers in Deep space Stations), is the preliminary design of a transmission Media Calibration System (MCS) to be located at an ESA Deep Space Antenna (DSA) site. The crucial aspect is the capability to accurately retrieve the tropospheric path delay along the line-of-sight of the deep space probe in order to allow precise tropospheric calibration of deep space observables (range and range-rate) with particular reference to the BepiColombo spacecraft and its primary DSA at Cebreros (ES). The study focuses on two main aspects which lead to the preliminary design of the Mercury Orbiter Radioscience Experiment (MORE) MCS: the characterization of current microwave radiometers (MWRs) available at ESA/ESTEC and the atmospheric fluctuation effects on the MCS error budget, in terms of the Allan standard deviation (ASD). In the course of the study, further critical aspects have been identified (effects of Sun contamination, effects of ground noise emission), and mitigation strategies have been proposed. The final outcome is a preliminary design of the MWR (and the entire MCS) to be deployed at the ESA/ESTRACK (ESA Tracking station network) sites and being compliant with MORE requirements.
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| 4. |
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| 5. |
- Tortora, P., et al.
(författare)
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Instruments, data and techniques for the assessment of tropospheric noise in deep space tracking
- 2012
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Ingår i: Proceedings of 6th European Conference on Antennas and Propagation, EuCAP 2012. Prague, 26-30 March 2012. - 9781457709180 ; , s. 106-110
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Konferensbidrag (refereegranskat)abstract
- This paper describes the techniques currently in use and those proposed for a precise estimation of the Earth troposphere path delay for Deep Space probe tracking purposes. The different proposed techniques could be selected according to the to the mission goals and tracking accuracy requirements. In this paper, they are sorted by an increasing accuracy but also level of complexity.
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