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- Eleftherohorinou, Hariklia, et al.
(författare)
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famCNV: copy number variant association for quantitative traits in families.
- 2011
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Ingår i: Bioinformatics (Oxford, England). - : Oxford University Press (OUP). - 1367-4811 .- 1367-4803. ; 27:13, s. 1873-5
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Tidskriftsartikel (refereegranskat)abstract
- A program package to enable genome-wide association of copy number variants (CNVs) with quantitative phenotypes in families of arbitrary size and complexity. Intensity signals that act as proxies for the number of copies are modeled in a variance component framework and association with traits is assessed through formal likelihood testing. AVAILABILITY AND IMPLEMENTATION: The Java package is made available at www.imperial.ac.uk/medicine/people/m.falchi/. CONTACT: m.falchi@imperial.ac.uk.
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| 3. |
- Elmberg, Maria, et al.
(författare)
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Increased Risk of Arthropathies and Joint Replacement Surgery in Patients With Genetic Hemochromatosis: A Study of 3,531 Patients and Their 11,794 First-Degree Relatives
- 2013
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Ingår i: Arthritis Care and Research. - : Wiley. - 2151-4658 .- 2151-464X. ; 65:5, s. 678-685
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Tidskriftsartikel (refereegranskat)abstract
- Objective Genetic hemochromatosis (GH) is an autosomal recessive disease in individuals of Northern and Western European descent. Heterozygosity for the C282Y mutation is common (620%). Arthropathy is one of the few complications of GH suggested not to be associated with iron body stores; synovial iron deposition remains in iron-depleted patients. Previous studies suggest an elevated prevalence of clinical and radiographic signs of arthropathy in patients with GH, and 2 smaller studies suggest a possibly elevated risk of joint replacement surgery, but more mixed results are shown regarding risks with HFE genotype. We therefore assessed the risks of arthropathy and joint replacement surgery in patients with GH and in their first-degree relatives (FDRs). Methods We performed a population-based cohort study of 3,531 patients with GH and of their 11,794 FDRs (assumed to be heterozygous for the C282Y mutation) using nationwide Swedish population-based health and census registers. Hazard ratios (HRs) of arthropathies and joint replacement surgeries among patients and their FDRs (versus the general population) were assessed using Cox regression. Results Between 1997 and 2005, 406 of 3,531 patients were reported/hospitalized with any noninfectious arthropathies, including osteoarthritis, corresponding to an HR of 2.38 (95% confidence interval [95% CI] 2.142.64). Patients were also at increased risk of hip replacement (HR 2.77, 95% CI 2.273.38) and knee replacement (HR 2.14, 95% CI 1.582.88) surgery. Among the 11,794 FDRs (patients excluded), we found no increased risk of any of the joint morbidities. Conclusion Patients with GH, but not their FDRs, are at increased risk of arthropathies, including the need for joint replacement surgery.
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- Lidestav, Gun, et al.
(författare)
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Models of Representation and Participation in Model Forests: Dilemmas and Implications for Networked Forms of Environmental Governance Involving Indigenous People
- 2013
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Ingår i: Environmental Policy and Governance. - : Wiley. - 1756-932X. ; 23, s. 161-176
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Tidskriftsartikel (refereegranskat)abstract
- Our study of two Model Forests illustrates the complex nature of representation in governance networks, in which different traditions of governance, persistent political disagreement and historical adversaries work together to achieve some goal. Using Pitkin's (1967) models of representation, we examined the role of social practices in giving meaning to representation in two model forests in Canada and in Sweden. Two normative models of representation (e.g., trustee and delegate) guided our interpretation of the enactment of representation in the two model forests mainly by highlighting how such models may be culturally biased-resulting in dilemmas of governance for actors that do not ascribe such meanings to representation. These insights led to a greater appreciation for the significance of politics in the enactment of representation, especially with regards to the political aspirations that motivate participatory and deliberative environmental governance. Our analysis suggests that the legitimacy and effectiveness of natural resource and environmental governance networks are affected by the rules structuring participation and deliberation, which are substantiated in social practices of representation in these networks. Our work further suggests that the analysis of representation in network forms of governance cannot be separated from an analysis of the politics of competing interests, especially whose interests are advanced and how these interests are given voice in steering environmental governance. Copyright (c) 2013 John Wiley & Sons, Ltd and ERP Environment
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| 6. |
- Proletov, Ian, et al.
(författare)
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Primary and secondary glomerulonephritides 1.
- 2014
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Ingår i: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. - : Oxford University Press (OUP). - 1460-2385. ; 29 Suppl 3:May, s. 186-200
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Tidskriftsartikel (refereegranskat)
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