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| 2. |
- Adam, A, et al.
(author)
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Abstracts from Hydrocephalus 2016.
- 2017
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In: Fluids and Barriers of the CNS. - : Springer Science and Business Media LLC. - 2045-8118. ; 14:Suppl 1
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Journal article (peer-reviewed)
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| 3. |
- Surakka, Ida, et al.
(author)
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The impact of low-frequency and rare variants on lipid levels.
- 2015
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:6, s. 589-597
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Journal article (peer-reviewed)abstract
- Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics (CELSR2, GCKR, LIPC and APOE) or candidate missense mutations with predicted damaging function (CD300LG and TM6SF2) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.
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| 4. |
- Björklund, J., et al.
(author)
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Scientific Merits and Analytical Challenges of Tree-Ring Densitometry
- 2019
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In: Reviews of geophysics. - 8755-1209 .- 1944-9208. ; 57:4, s. 1224-1264
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Research review (peer-reviewed)abstract
- X-ray microdensitometry on annually resolved tree-ring samples has gained an exceptional position in last-millennium paleoclimatology through the maximum latewood density (MXD) parameter, but also increasingly through other density parameters. For 50 years, X-ray based measurement techniques have been the de facto standard. However, studies report offsets in the mean levels for MXD measurements derived from different laboratories, indicating challenges of accuracy and precision. Moreover, reflected visible light-based techniques are becoming increasingly popular, and wood anatomical techniques are emerging as a potentially powerful pathway to extract density information at the highest resolution. Here we review the current understanding and merits of wood density for tree-ring research, associated microdensitometric techniques, and analytical measurement challenges. The review is further complemented with a careful comparison of new measurements derived at 17 laboratories, using several different techniques. The new experiment allowed us to corroborate and refresh long-standing wisdom but also provide new insights. Key outcomes include (i) a demonstration of the need for mass/volume-based recalibration to accurately estimate average ring density; (ii) a substantiation of systematic differences in MXD measurements that cautions for great care when combining density data sets for climate reconstructions; and (iii) insights into the relevance of analytical measurement resolution in signals derived from tree-ring density data. Finally, we provide recommendations expected to facilitate futureinter-comparability and interpretations for global change research.
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| 5. |
- Björklund, Jesper, 1979, et al.
(author)
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Scientific Merits and Analytical Challenges ofTree-Ring Densitometry
- 2019
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In: Reviews of Geophysics. - : American Geophysical Union (AGU). - 8755-1209 .- 1944-9208. ; 57:4, s. 1224-1264
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Journal article (peer-reviewed)abstract
- X-ray microdensitometry on annually resolved tree-ring samples has gained an exceptional position in last-millennium paleoclimatology through the maximum latewood density (MXD) parameter, but also increasingly through other density parameters. For 50 years, X-ray based measurement techniques have been the de facto standard. However, studies report offsets in the mean levels for MXD measurements derived from different laboratories, indicating challenges of accuracy and precision. Moreover, reflected visible light-based techniques are becoming increasingly popular, and wood anatomical techniques are emerging as a potentially powerful pathway to extract density information at the highest resolution. Here we review the current understanding and merits of wood density for tree-ring research, associated microdensitometric techniques, and analytical measurement challenges. The review is further complemented with a careful comparison of new measurements derived at 17 laboratories, using several different techniques. The new experiment allowed us to corroborate and refresh "long-standing wisdom" but also provide new insights. Key outcomes include (i) a demonstration of the need for mass/volume-based recalibration to accurately estimate average ring density; (ii) a substantiation of systematic differences in MXD measurements that cautions for great care when combining density data sets for climate reconstructions; and (iii) insights into the relevance of analytical measurement resolution in signals derived from tree-ring density data. Finally, we provide recommendations expected to facilitate futureinter-comparability and interpretations for global change research.
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| 6. |
- Cook, ER, et al.
(author)
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Old World megadroughts and pluvials during the Common Era
- 2015
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In: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 1:10
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Journal article (peer-reviewed)abstract
- Climate model projections suggest widespread drying in the Mediterranean Basin and wetting in Fennoscandia in the coming decades largely as a consequence of greenhouse gas forcing of climate. To place these and other “Old World” climate projections into historical perspective based on more complete estimates of natural hydroclimatic variability, we have developed the “Old World Drought Atlas” (OWDA), a set of year-to-year maps of tree-ring reconstructed summer wetness and dryness over Europe and the Mediterranean Basin during the Common Era. TheOWDAmatches historical accounts of severe drought and wetness with a spatial completeness not previously available. In addition, megadroughts reconstructed over north-central Europe in the 11th and mid-15th centuries reinforce other evidence from North America and Asia that droughts were more severe, extensive, and prolonged over Northern Hemisphere land areas before the 20th century, with an inadequate understanding of their causes. The OWDA provides new data to determine the causes of Old World drought and wetness and attribute past climate variability to forced and/or internal variability.
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| 7. |
- Hakkinen, E., et al.
(author)
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Online measurement of highly oxygenated compounds from organic aerosol
- 2023
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In: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 16:6, s. 1705-1721
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Journal article (peer-reviewed)abstract
- Highly oxygenated compounds are important contributors to the formation and growth of atmospheric organic aerosol and thus have an impact on Earth's radiation balance and global climate. However, knowledge of the contribution of highly oxygenated compounds to organic aerosol and their fate after condensing into the particle phase has been limited by the lack of suitable detection techniques. Here, we present a new online method for measuring highly oxygenated compounds from organic aerosol. The method includes thermal evaporation of particles in a new inlet, the vaporization inlet for aerosols (VIA), followed by identification of the evaporated highly oxygenated compounds by a nitrate chemical ionization mass spectrometer (NO3-CIMS). The method does not require sample collection, enabling highly time-resolved measurements of particulate compounds. We evaluate the performance of the method by measuring the detection limit and performing background measurements. We estimate a detection limit of below 1 ng m(-3) for a single compound and below 1 mu g m(-3) for SOA with the sampling setup used here. These detection limits can be improved upon by optimizing the flow setup. Furthermore, we detect hundreds of particulate highly oxygenated compounds from organic aerosol generated from different precursors. Our results are consistent with previous studies showing that the volatility of organic compounds decreases with increasing m/z ratio and level of oxygenation and that organic aerosol consists of monomers and oligomeric compounds. By comparing the gas- and particle-phase compounds, we found indications of potential particle-phase reactions occurring in organic aerosol. Future work will focus both on further improving the sampling design and on better understanding the evaporation dynamics of the system, but already these initial tests show that the VIA coupled to the NO3-CIMS is a promising method for investigating the transformations and fate of the compounds after condensing into the particle phase.
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| 11. |
- Tentler, D., et al.
(author)
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Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
- 1999
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In: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 7:5, s. 541-8
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Journal article (peer-reviewed)abstract
- Non-specific X-linked mental retardation is a heterogeneous group of disorders with an incidence of approximately 1 in 500 males. A recently identified gene in Xq12, encoding a Rho-GTPase-activating protein, was found to be mutated in individuals with mental retardation. We describe here two sisters with a 46,XY karyotype and a microdeletion of the oligophrenin-1 gene and 1.1 Mb of flanking DNA. We have characterised the molecular interval defining this microdeletion syndrome with the fibre-FISH technique. A visual physical map of 1.2 Mb was constructed which spans the oligophrenin-1 gene and the androgen receptor gene. The analysis of the patients revealed a deletion which extended from the 5' end of the AR gene to a region approximately 80 kb proximal to the EPLG2 gene. The clinical manifestations of the two sisters include psychomotor retardation, seizures, ataxia, hypotonia and complete androgen insensitivity. Cranial MRI scans show enlargement of the cerebral ventricles and cerebellar hypoplasia. Our findings give further support for the involvement of the oligophrenin-1 gene in specific morphological abnormalities of the brain which is of importance in the investigation of male patients presenting with mental retardation. In combination with our results from physical mapping we suggest that a region around the oligophrenin-1 locus is relatively bereft of vital genes.
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