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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Krawitz PM, et al. Among authors: kolsch u. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM. Howard MF, et al. Among authors: kolsch u. Am J Hum Genet. 2014 Feb 6;94(2):278-87. doi: 10.1016/j.ajhg.2013.12.012. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439110 Free PMC article.
The SCIentinel study--prospective multicenter study to define the spinal cord injury-induced immune depression syndrome (SCI-IDS)--study protocol and interim feasibility data.
Kopp MA, Druschel C, Meisel C, Liebscher T, Prilipp E, Watzlawick R, Cinelli P, Niedeggen A, Schaser KD, Wanner GA, Curt A, Lindemann G, Nugaeva N, Fehlings MG, Vajkoczy P, Cabraja M, Dengler J, Ertel W, Ekkernkamp A, Martus P, Volk HD, Unterwalder N, Kölsch U, Brommer B, Hellmann RC, Saidy RR, Laginha I, Prüss H, Failli V, Dirnagl U, Schwab JM. Kopp MA, et al. Among authors: kolsch u. BMC Neurol. 2013 Nov 9;13:168. doi: 10.1186/1471-2377-13-168. BMC Neurol. 2013. PMID: 24206943 Free PMC article. Clinical Trial.
Septic arthritis or juvenile idiopathic arthritis--the case of a 2 year old boy.
Kallinich T, Kölsch U, Lieber M, Unterwalder N, Spors B, Lorenz M, Schwarz K, Meisel C, von Bernuth H. Kallinich T, et al. Among authors: kolsch u. Pediatr Allergy Immunol. 2015 Jun;26(4):389-91. doi: 10.1111/pai.12373. Epub 2015 Apr 24. Pediatr Allergy Immunol. 2015. PMID: 25865658 No abstract available.
Late-Onset Disseminated Mycobacterium avium intracellulare Complex Infection (MAC), Cerebral Toxoplasmosis and Salmonella Sepsis in a German Caucasian Patient with Unusual Anti-Interferon-Gamma IgG1 Autoantibodies.
Hanitsch LG, Löbel M, Müller-Redetzky H, Schürmann M, Suttorp N, Unterwalder N, Mönnich U, Meisel C, Wittke K, Volk HD, Scheibenbogen C, Kölsch U. Hanitsch LG, et al. Among authors: kolsch u. J Clin Immunol. 2015 May;35(4):361-5. doi: 10.1007/s10875-015-0161-5. Epub 2015 Apr 15. J Clin Immunol. 2015. PMID: 25875701
Untimely TGFβ responses in COVID-19 limit antiviral functions of NK cells.
Witkowski M, Tizian C, Ferreira-Gomes M, Niemeyer D, Jones TC, Heinrich F, Frischbutter S, Angermair S, Hohnstein T, Mattiola I, Nawrath P, McEwen S, Zocche S, Viviano E, Heinz GA, Maurer M, Kölsch U, Chua RL, Aschman T, Meisel C, Radke J, Sawitzki B, Roehmel J, Allers K, Moos V, Schneider T, Hanitsch L, Mall MA, Conrad C, Radbruch H, Duerr CU, Trapani JA, Marcenaro E, Kallinich T, Corman VM, Kurth F, Sander LE, Drosten C, Treskatsch S, Durek P, Kruglov A, Radbruch A, Mashreghi MF, Diefenbach A. Witkowski M, et al. Among authors: kolsch u. Nature. 2021 Dec;600(7888):295-301. doi: 10.1038/s41586-021-04142-6. Epub 2021 Oct 25. Nature. 2021. PMID: 34695836
Infectious and immunologic phenotype of MECP2 duplication syndrome.
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H. Bauer M, et al. Among authors: kolsch u. J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27. J Clin Immunol. 2015. PMID: 25721700 Free PMC article.
34 results