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- Hu, H., et al.
(författare)
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
- 2016
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 21:1, s. 133-148
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Tidskriftsartikel (refereegranskat)abstract
- X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
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- von Hobe, M, et al.
(författare)
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Reconciliation of essential process parameters for an enhanced predictability of Arctic stratospheric ozone loss and its climate interactions (RECONCILE): activities and results
- 2013
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Ingår i: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 13:18, s. 9233-9268
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Tidskriftsartikel (refereegranskat)abstract
- The international research project RECONCILE has addressed central questions regarding polar ozone depletion, with the objective to quantify some of the most relevant yet still uncertain physical and chemical processes and thereby improve prognostic modelling capabilities to realistically predict the response of the ozone layer to climate change. This overview paper outlines the scope and the general approach of RECONCILE, and it provides a summary of observations and modelling in 2010 and 2011 that have generated an in many respects unprecedented dataset to study processes in the Arctic winter stratosphere. Principally, it summarises important outcomes of RECONCILE including (i) better constraints and enhanced consistency on the set of parameters governing catalytic ozone destruction cycles, (ii) a better understanding of the role of cold binary aerosols in heterogeneous chlorine activation, (iii) an improved scheme of polar stratospheric cloud (PSC) processes that includes heterogeneous nucleation of nitric acid trihydrate (NAT) and ice on non-volatile background aerosol leading to better model parameterisations with respect to denitrification, and (iv) long transient simulations with a chemistryclimate model (CCM) updated based on the results of RECONCILE that better reproduce past ozone trends in Antarctica and are deemed to produce more reliable predictions of future ozone trends. The process studies and the global simulations conducted in RECONCILE show that in the Arctic, ozone depletion uncertainties in the chemical and microphysical processes are now clearly smaller than the sensitivity to dynamic variability.
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| 4. |
- Schmitt, F. C., et al.
(författare)
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Standardisierter Computer-basiert- o rganisierter Report des EEG (SCORE) - Eine strukturierende Form der EEG-Befundung
- 2018
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Ingår i: Klinische Neurophysiologie. - : Georg Thieme Verlag KG. - 1434-0275 .- 1439-4081. ; 49:2, s. 1-18
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Tidskriftsartikel (refereegranskat)abstract
- A taskforce formed in 2013 by the International Federation of Clinical Neurophysiology developed an EEG terminology with international consensus. In the following, the result - the second version of Standardized Computer-based Organized Reporting of EEG (SCORE) will be summarised. The terminology was tested in clinical practice using a software package (SCORE-EEG) applied to over 12,000 EEGs. The selection of terms is context-dependent: the initial selection determines which further options are available. A report is automatically generated and individual features are fed into a database. SCORE contains specialised modules for reporting on epileptic seizures, as well as for characteristic neonatal and intensive care EEG features. SCORE is a useful tool not only for outpatient, clinical and research settings, but also for quality control, data sharing and education.
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| 6. |
- Buehler, Stefan, et al.
(författare)
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A concept for a satellite mission to measure cloud ice water path, ice particle size, and cloud altitude
- 2007
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Ingår i: Quarterly Journal of the Royal Meteorological Society. - : Wiley. - 0035-9009 .- 1477-870X. ; 133:S2, s. 109-128
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Tidskriftsartikel (refereegranskat)abstract
- A passive satellite radiometer operating at submillimetre wavelengths can measure cloud ice water path (IWP), ice particle size, and cloud altitude. The paper first discusses the scientific background for such measurements. Formal scientific mission requirements are derived, based on this background and earlier assessments. The paper then presents a comprehensive prototype instrument and mission concept, and demonstrates that it meets the requirements. The instrument is a conically scanning 12-channel radiometer with channels between 183 and 664 GHz, proposed to fly in tandem with one of the Metop satellites. It can measure IWP with a relative accuracy of approximately 20% and a detection threshold of approximately 2 g m−2. The median mass equivalent sphere diameter of the ice particles can be measured with an accuracy of approximately 30 µm, and the median IWP cloud altitude can be measured with an accuracy of approximately 300 m. All the above accuracies are median absolute error values; root mean square error values are approximately twice as high, due to rare outliers.
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