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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: wimmer k. Twin Res Hum Genet. 2010 Dec;13(6):582-94. doi: 10.1375/twin.13.6.582. Twin Res Hum Genet. 2010. PMID: 21142935
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M. Emmerich D, et al. Among authors: wimmer k. Eur J Hum Genet. 2015 Jun;23(6):870-3. doi: 10.1038/ejhg.2014.210. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293717 Free PMC article.
Neurofibromatosis type 1 (NF1) and associated tumors.
Rosenbaum T, Wimmer K. Rosenbaum T, et al. Among authors: wimmer k. Klin Padiatr. 2014 Nov;226(6-7):309-15. doi: 10.1055/s-0034-1382021. Epub 2014 Jul 25. Klin Padiatr. 2014. PMID: 25062113 Review.
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.
Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H. Steinmann K, et al. Among authors: wimmer k. Am J Hum Genet. 2007 Dec;81(6):1201-20. doi: 10.1086/522089. Epub 2007 Oct 31. Am J Hum Genet. 2007. PMID: 17999360 Free PMC article.
205 results