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Sökning: WFRF:(Gleeson Emily)

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1.
  • Sterl, Andreas, et al. (författare)
  • A look at the ocean in the EC-Earth climate model
  • 2012
  • Ingår i: Climate Dynamics. - : Springer Science and Business Media LLC. - 0930-7575 .- 1432-0894. ; 39:11, s. 2631-2657
  • Tidskriftsartikel (refereegranskat)abstract
    • EC-Earth is a newly developed global climate system model. Its core components are the Integrated Forecast System (IFS) of the European Centre for Medium Range Weather Forecasts (ECMWF) as the atmosphere component and the Nucleus for European Modelling of the Ocean (NEMO) developed by Institute Pierre Simon Laplace (IPSL) as the ocean component. Both components are used with a horizontal resolution of roughly one degree. In this paper we describe the performance of NEMO in the coupled system by comparing model output with ocean observations. We concentrate on the surface ocean and mass transports. It appears that in general the model has a cold and fresh bias, but a much too warm Southern Ocean. While sea ice concentration and extent have realistic values, the ice tends to be too thick along the Siberian coast. Transports through important straits have realistic values, but generally are at the lower end of the range of observational estimates. Exceptions are very narrow straits (Gibraltar, Bering) which are too wide due to the limited resolution. Consequently the modelled transports through them are too high. The strength of the Atlantic meridional overturning circulation is also at the lower end of observational estimates. The interannual variability of key variables and correlations between them are realistic in size and pattern. This is especially true for the variability of surface temperature in the tropical Pacific (El Nio). Overall the ocean component of EC-Earth performs well and helps making EC-Earth a reliable climate model.
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2.
  • Travaglini, Lorena, et al. (författare)
  • Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
  • 2013
  • Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 21:10, s. 8-1074
  • Tidskriftsartikel (refereegranskat)abstract
    • Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus.
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3.
  • 2019
  • Tidskriftsartikel (refereegranskat)
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