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MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L. Kolanczyk M, et al. Among authors: harder a. BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82. BMC Med. 2011. PMID: 21726432 Free PMC article.
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.
Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M. Kobus K, et al. Among authors: harder a. PLoS One. 2015 Mar 16;10(3):e0119030. doi: 10.1371/journal.pone.0119030. eCollection 2015. PLoS One. 2015. PMID: 25775093 Free PMC article.
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
Harder A, Titze S, Herbst L, Harder T, Guse K, Tinschert S, Kaufmann D, Rosenbaum T, Mautner VF, Windt E, Wahlländer-Danek U, Wimmer K, Mundlos S, Peters H. Harder A, et al. Among authors: harder t. Twin Res Hum Genet. 2010 Dec;13(6):582-94. doi: 10.1375/twin.13.6.582. Twin Res Hum Genet. 2010. PMID: 21142935
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.
Peters H, Lüder A, Harder A, Schuelke M, Tinschert S. Peters H, et al. Among authors: harder a. Hum Mutat. 1999;13(3):258. doi: 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1. Hum Mutat. 1999. PMID: 10090487
Impaired Pten expression in human malignant peripheral nerve sheath tumours.
Bradtmöller M, Hartmann C, Zietsch J, Jäschke S, Mautner VF, Kurtz A, Park SJ, Baier M, Harder A, Reuss D, von Deimling A, Heppner FL, Holtkamp N. Bradtmöller M, et al. Among authors: harder a. PLoS One. 2012;7(11):e47595. doi: 10.1371/journal.pone.0047595. Epub 2012 Nov 6. PLoS One. 2012. PMID: 23139750 Free PMC article.
268 results