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Chordoma characterization of significant changes of the DNA methylation pattern.
Rinner B, Weinhaeusel A, Lohberger B, Froehlich EV, Pulverer W, Fischer C, Meditz K, Scheipl S, Trajanoski S, Guelly C, Leithner A, Liegl B. Rinner B, et al. Among authors: fischer c. PLoS One. 2013;8(3):e56609. doi: 10.1371/journal.pone.0056609. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533570 Free PMC article.
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Papić L, Fischer D, Trajanoski S, Höftberger R, Fischer C, Ströbel T, Schmidt WM, Bittner RE, Schabhüttl M, Gruber K, Pieber TR, Janecke AR, Auer-Grumbach M. Papić L, et al. Among authors: fischer c, fischer d. Eur J Med Genet. 2011 May-Jun;54(3):214-9. doi: 10.1016/j.ejmg.2010.12.003. Epub 2010 Dec 21. Eur J Med Genet. 2011. PMID: 21172462 Free PMC article.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M, Schabhüttl M, Arslan-Kirchner M, Javaher-Haghighi P, Plecko B, Senderek J, Rauscher C, Löscher WN, Pieber TR, Janecke AR, Auer-Grumbach M. Fischer C, et al. J Neurol. 2012 Mar;259(3):515-23. doi: 10.1007/s00415-011-6213-8. Epub 2011 Sep 4. J Neurol. 2012. PMID: 21892769 Free PMC article.
Human melanoma brain metastases cell line MUG-Mel1, isolated clones and their detailed characterization.
Heitzer E, Groenewoud A, Meditz K, Lohberger B, Liegl-Atzwanger B, Prokesch A, Kashofer K, Behrens D, Haybaeck J, Kolb-Lenz D, Koefeler H, Riedl S, Schaider H, Fischer C, Snaar-Jagalska BE, de'Jong D, Szuhai K, Zweytick D, Rinner B. Heitzer E, et al. Among authors: fischer c. Sci Rep. 2019 Mar 11;9(1):4096. doi: 10.1038/s41598-019-40570-1. Sci Rep. 2019. PMID: 30858407 Free PMC article.
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C. Auer-Grumbach M, et al. Among authors: fischer c. Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037588 Free PMC article.
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Beetz C, et al. Among authors: fischer c. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703882 Free PMC article.
2,700 results