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- Szatmari, Peter, et al.
(author)
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- 2007
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
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Journal article (peer-reviewed)abstract
- Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
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- Andersson Sundén, Erik, et al.
(author)
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The thin-foil magnetic proton recoil neutron spectrometer MPRu at JET
- 2009
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In: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 610:3, s. 682-699
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Journal article (peer-reviewed)abstract
- Neutrons are produced in fusion energy experiments with both deuterium (D) and deuterium–tritium (DT) plasmas. Neutron spectroscopy is a valuable tool in the study of the underlying fuel ion populations. The magnetic proton recoil neutron spectrometer, originally installed at JET in 1996 for 14-MeV neutron measurements, has been upgraded, with the main aim of improving its signal-to-background ratio (S/B), making measurements of the 2.5-MeV neutron emission in D plasmas possible. The upgrade includes a new focal-plane detector, based on the phoswich technique and consequently less sensitive to background, and a new custom-designed digital data acquisition system based on transient recorder cards. Results from JET show that the upgraded MPRu can measure 2.5-MeV neutrons with S/B=5, an improvement by a factor of 50 compared with the original MPR. S/B of 2.8×104 in future DT experiments is estimated. The performance of the MPRu is exemplified with results from recent D plasma operations at JET, concerning both measurements with Ohmic, ion cyclotron resonance (ICRH) and neutral beam injection (NBI) plasma heating, as well as measurements of tritium burn-up neutrons. The upgraded instrument allows for 2.5-MeV neutron emission and deuterium ion temperature measurements in plasmas with low levels of tritium, a feature necessary for the ITER experiment.
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- Jakobsson, P, et al.
(author)
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A mean redshift of 2.8 for Swift gamma-ray bursts
- 2006
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In: Astronomy & Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 447:3, s. 897-903
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Journal article (peer-reviewed)abstract
- The exceptionally high luminosities of gamma-ray bursts (GRBs), gradually emerging as extremely useful probes of star formation, make them promising tools for exploration of the high-redshift Universe. Here we present a carefully selected sample of Swift GRBs, intended to estimate in an unbiased way the GRB mean redshift (z(mean)), constraints on the fraction of high-redshift bursts and an upper limit on the fraction of heavily obscured afterglows. We find that z(mean) = 2.8 and that at least 7% of GRBs originate at z > 5. In addition, consistent with pre-Swift observations, at most 20% of afterglows can be heavily obscured. The redshift distribution of the sample is qualitatively consistent with models where the GRB rate is proportional to the star formation rate in the Universe. We also report optical, near-infrared and X-ray observations of the afterglow of GRB 050814, which was seen to exhibit very red optical colours. By modelling its spectral energy distribution we find that z = 5.3 +/- 0.3. The high mean redshift of GRBs and their wide redshift range clearly demonstrates their suitability as efficient probes of galaxies and the intergalactic medium over a significant fraction of the history of the Universe.
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