Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: GTP PHOSPHOHYDROLASES - GENETICS , . Treffer: 9
2017
Rinner, B; Gandolfi, G; Meditz, K; Frisch, MT; Wagner, K; Ciarrocchi, A; Torricelli, F; Koivuniemi, R; Niklander, J; Liegl-Atzwanger, B; Lohberger, B; Heitzer, E; Ghaffari-Tabrizi-Wizsy, N; Zweytick, D; Zalaudek, I
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Sci Rep. 2017; 7(1):2098-2098
Doi: 10.1038/s41598-017-02197-y
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Saraggi, D; Salmaso, R; Valentini, E; Munari, G; Vindigni, V; Rugge, M; Fassan, M; Cerroni, L
Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver.
Pathol Res Pract. 2017; 213(7):860-862
Doi: 10.1016/j.prp.2017.03.012
(- Case Report)
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2015
Jahn, SW; Kashofer, K; Halbwedl, I; Winter, G; El-Shabrawi-Caelen, L; Mentzel, T; Hoefler, G; Liegl-Atzwanger, B
Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis.
Mod Pathol. 2015; 28(7):895-903
Doi: 10.1038/modpathol.2015.39
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Kaczirek, K; Ciuleanu, TE; Vrbanec, D; Marton, E; Messinger, D; Liegl-Atzwanger, B; Wrba, F; Knittelfelder, R; Lindner, E; Zielinski, CC; Streubel, B; Brodowicz, T
FOLFOX4 Plus Cetuximab for Patients With Previously Untreated Metastatic Colorectal Cancer According to Tumor RAS and BRAF Mutation Status: Updated Analysis of the CECOG/CORE 1.2.002 Study.
Clin Colorectal Cancer. 2015; 14(2):91-98
Doi: 10.1016/j.clcc.2014.12.003
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2013
Griewank, KG; Westekemper, H; Murali, R; Mach, M; Schilling, B; Wiesner, T; Schimming, T; Livingstone, E; Sucker, A; Grabellus, F; Metz, C; Süsskind, D; Hillen, U; Speicher, MR; Woodman, SE; Steuhl, KP; Schadendorf, D
Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Clin Cancer Res. 2013; 19(12):3143-3152
Doi: 10.1158/1078-0432.CCR-13-0163
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Hacker, E; Nagore, E; Cerroni, L; Woods, SL; Hayward, NK; Chapman, B; Montgomery, GW; Soyer, HP; Whiteman, DC;
NRAS and BRAF Mutations in Cutaneous Melanoma and the Association with MC1R Genotype: Findings from Spanish and Austrian Populations.
J INVEST DERMATOL. 2013; 133(4): 1027-1033.
Doi: 10.1038/jid.2012.385
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2012
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
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523
Doi: 10.1007/s00415-011-6213-8
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2011
Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105
Doi: 10.1016/j.ajhg.2010.12.003
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2010
Yu-Wai-Man, P; Griffiths, PG; Gorman, GS; Lourenco, CM; Wright, AF; Auer-Grumbach, M; Toscano, A; Musumeci, O; Valentino, ML; Caporali, L; Lamperti, C; Tallaksen, CM; Duffey, P; Miller, J; Whittaker, RG; Baker, MR; Jackson, MJ; Clarke, MP; Dhillon, B; Czermin, B; Stewart, JD; Hudson, G; Reynier, P; Bonneau, D; Marques, W; Lenaers, G; McFarland, R; Taylor, RW; Turnbull, DM; Votruba, M; Zeviani, M; Carelli, V; Bindoff, LA; Horvath, R; Amati-Bonneau, P; Chinnery, PF
Multi-system neurological disease is common in patients with OPA1 mutations.
Brain. 2010; 133(Pt 3): 771-786.
Doi: 10.1093/brain/awq007
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