Search: onr:"swepub:oai:DiVA.org:umu-169456" > Dose response of th...
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001 | oai:DiVA.org:umu-169456 | |
003 | SwePub | |
008 | 200403s2020 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:143184587 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1694562 URI |
024 | 7 | a https://doi.org/10.1038/s41380-018-0118-12 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1431845872 URI |
040 | a (SwePub)umud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
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100 | 1 | a Sonderby, Ida E.4 aut |
245 | 1 0 | a Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia |
264 | c 2018-10-03 | |
264 | 1 | b Nature Publishing Group,c 2020 |
338 | a electronic2 rdacarrier | |
500 | a Correction: Sønderby, I.E., Gústafsson, Ó., Doan, N.T. et al. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry 25, 692–695 (2020). https://doi.org/10.1038/s41380-019-0358-8 | |
520 | a Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
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710 | 2 | a Umeå universitetb Umeå centrum för funktionell hjärnavbildning (UFBI)4 org |
773 | 0 | t Molecular Psychiatryd : Nature Publishing Groupg 25:3, s. 584-602q 25:3<584-602x 1359-4184x 1476-5578 |
856 | 4 | u https://doi.org/10.1038/s41380-018-0118-1y Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:1421569/FULLTEXT02.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://www.nature.com/articles/s41380-018-0118-1.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169456 |
856 | 4 8 | u https://doi.org/10.1038/s41380-018-0118-1 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:143184587 |
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