| 1. |
- Szatmari, Peter, et al.
(författare)
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- 2007
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
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Tidskriftsartikel (refereegranskat)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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| 2. |
- Angelou, George C., et al.
(författare)
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Diagnostics of stellar modelling from spectroscopy and photometry of globular clusters
- 2015
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 1365-2966 .- 0035-8711. ; 450:3, s. 2423-2440
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Tidskriftsartikel (refereegranskat)abstract
- We conduct a series of comparisons between spectroscopic and photometric observations of globular clusters and stellar models to examine their predictive power. Data from medium-to-high resolution spectroscopic surveys of lithium allow us to investigate first dredge-up and extra mixing in two clusters well separated in metallicity. Abundances at first dredge-up are satisfactorily reproduced but there is preliminary evidence to suggest that the models overestimate the luminosity at which the surface composition first changes in the lowest metallicity system. Our models also begin extra mixing at luminosities that are too high, demonstrating a significant discrepancy with observations at low metallicity. We model the abundance changes during extra mixing as a thermohaline process and determine that the usual diffusive form of this mechanism cannot simultaneously reproduce both the carbon and lithium observations. Hubble Space Telescope photometry provides turn-off and bump magnitudes in a large number of globular clusters and offers the opportunity to better test stellar modelling as function of metallicity. We directly compare the predicted main-sequence turn-off and bump magnitudes as well as the distance-independent parameter $\Delta M_V \,<^>{\rm {MSTO}}_{\rm {bump}}$. We require 15 Gyr isochrones to match the main-sequence turn-off magnitude in some clusters and cannot match the bump in low-metallicity systems. Changes to the distance modulus, metallicity scale and bolometric corrections may impact on the direct comparisons but $\Delta M_V \,<^>{\rm {MSTO}}_{\rm {bump}}$, which is also underestimated from the models, can only be improved through changes to the input physics. Overshooting at the base of the convective envelope with an efficiency that is metallicity dependent is required to reproduce the empirically determined value of $\Delta M_V \,<^>{\rm {MSTO}}_{\rm {bump}}$.
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| 3. |
- Caretta, Martina Angela, et al.
(författare)
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Water
- 2022
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Ingår i: Climate Change 2022: Impacts, Adaptation and Vulnerability : Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change - Contribution of Working Group II to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Chotai, Jayanti, et al.
(författare)
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Cerebrospinal fluid monoamine metabolite levels in human newborn infants born in winter differ from those born in summer.
- 2006
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Ingår i: Psychiatry Research. - : Elsevier BV. - 0165-1781 .- 1872-7123. ; 145:2-3, s. 189-97
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Tidskriftsartikel (refereegranskat)abstract
- An earlier study has shown significant differences in the CSF monoamine metabolite levels in adults born during different seasons of the year. We study here the relationship between season of birth and CSF monoamine metabolite levels in 283 newborn febrile infants without neurological abnormalities, with an age distribution ranging from birth to about 3 months, adjusting for the confounding variables age and time at lumbar puncture, weight at birth, estimated gestational age at birth, gender, race, and medicaid status. Each of the three metabolite levels as well as their ratios HVA/5-HIAA and 5-HIAA/MHPG showed significant month-of-birth variations, but not the ratio HVA/MHPG. For HVA and MHPG levels, the maximum was obtained around the winter birth months November-December, whereas for 5-HIAA level, the maximum was obtained around the summer birth months June-July. The correlations between HVA and 5-HIAA were, in general, significantly positive within the different birth seasons and races. Among summer-born Caucasian infants, MHPG was significantly positively correlated with HVA and with 5-HIAA, whereas among winter-born Black infants, MHPG was significantly positively correlated with HVA. Season of birth is an unspecific environmental factor that may be proxy for several possible seasonally varying environmental circumstances such as the length of photoperiod, temperature, infections, nutrition, stress and lifestyle. Studies relating season of birth to monoaminergic turnover at different stages of life may yield important clues about the gestational and perinatal origins of neurodevelopment.
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| 5. |
- Doherty, Carolyn L., et al.
(författare)
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Monash chemical yields project (Monχey) element production in low- and intermediate-mass stars
- 2015
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Ingår i: Proceedings of the International Astronomical Union. - 1743-9213. ; 11:A29B, s. 164-165
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Tidskriftsartikel (refereegranskat)abstract
- The Monχey project will provide a large and homogeneous set of stellar yields for the low- and intermediate- mass stars and has applications particularly to galactic chemical evolution modelling. We describe our detailed grid of stellar evolutionary models and corresponding nucleosynthetic yields for stars of initial mass 0.8 M⊙ up to the limit for core collapse supernova (CC-SN) ≈ 10 M⊙. Our study covers a broad range of metallicities, ranging from the first, primordial stars (Z = 0) to those of super-solar metallicity (Z = 0.04). The models are evolved from the zero-age main-sequence until the end of the asymptotic giant branch (AGB) and the nucleosynthesis calculations include all elements from H to Bi. A major innovation of our work is the first complete grid of heavy element nucleosynthetic predictions for primordial AGB stars as well as the inclusion of extra-mixing processes (in this case thermohaline) during the red giant branch. We provide a broad overview of our results with implications for galactic chemical evolution as well as highlight interesting results such as heavy element production in dredge-out events of super-AGB stars. We briefly introduce our forthcoming web-based database which provides the evolutionary tracks, structural properties, internal/surface nucleosynthetic compositions and stellar yields. Our web interface includes user- driven plotting capabilities with output available in a range of formats. Our nucleosynthetic results will be available for further use in post processing calculations for dust production yields.
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