Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: DNA MUTATIONAL ANALYSIS - METHODS , . Treffer: 27

2018

Davidson, B; Pinamonti, M; Cuevas, D; Holth, A; Zeppa, P; Hager, T; Wohlschlaeger, J; Tötsch, M The diagnostic role of PTEN and ARID1A in serous effusions.
Virchows Arch. 2018; 472(3):425-432 Doi: 10.1007/s00428-017-2273-1
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El-Heliebi, A; Hille, C; Laxman, N; Svedlund, J; Haudum, C; Ercan, E; Kroneis, T; Chen, S; Smolle, M; Rossmann, C; Krzywkowski, T; Ahlford, A; Darai, E; von Amsberg, G; Alsdorf, W; König, F; Löhr, M; de Kruijff, I; Riethdorf, S; Gorges, TM; Pantel, K; Bauernhofer, T; Nilsson, M; Sedlmayr, P In Situ Detection and Quantification of AR-V7, AR-FL, PSA, and KRAS Point Mutations in Circulating Tumor Cells.
Clin Chem. 2018; 64(3):536-546 Doi: 10.1373/clinchem.2017.281295 [OPEN ACCESS]
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2017

Ofner, R; Ritter, C; Ugurel, S; Cerroni, L; Stiller, M; Bogenrieder, T; Solca, F; Schrama, D; Becker, JC Non-reproducible sequence artifacts in FFPE tissue: an experience report.
J Cancer Res Clin Oncol. 2017; 143(7):1199-1207 Doi: 10.1007/s00432-017-2399-1 [OPEN ACCESS]
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2016

Jahn, SW; Kashofer, K; Thüringer, A; Abete, L; Winter, E; Eidenhammer, S; Viertler, C; Tavassoli, F; Moinfar, F Mutation Profiling of Usual Ductal Hyperplasia of the Breast Reveals Activating Mutations Predominantly at Different Levels of the PI3K/AKT/mTOR Pathway.
Am J Pathol. 2016; 186(1):15-23 Doi: 10.1016/j.ajpath.2015.09.004 [OPEN ACCESS]
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2015

Wiesner, T; Kiuru, M; Scott, SN; Arcila, M; Halpern, AC; Hollmann, T; Berger, MF; Busam, KJ NF1 Mutations Are Common in Desmoplastic Melanoma.
Am J Surg Pathol. 2015; 39(10): 1357-1362. Doi: 10.1097/PAS.0000000000000451 [OPEN ACCESS]
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Zopf, A; Raim, R; Danzer, M; Niklas, N; Spilka, R; Pröll, J; Gabriel, C; Nechansky, A; Roucka, M Introduction of the hybcell-based compact sequencing technology and comparison to state-of-the-art methodologies for KRAS mutation detection.
Biotechniques. 2015; 58(3):126-134 Doi: 10.2144/000114264 [OPEN ACCESS]
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2014

Kastner, R; Zopf, A; Preuner, S; Pröll, J; Niklas, N; Foskett, P; Valent, P; Lion, T; Gabriel, C Rapid identification of compound mutations in patients with Philadelphia-positive leukaemias by long-range next generation sequencing.
Eur J Cancer. 2014; 50(4): 793-800. Doi: 10.1016/j.ejca.2013.11.030 [OPEN ACCESS]
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2013

Dijkstra, JR; Heideman, DA; Meijer, GA; Boers, JE; 't Hart, NA; Diebold, J; Hirschmann, A; Hoefler, G; Winter, G; Miltenberger-Miltenyi, G; Pereira, SV; Richman, SD; Quirke, P; Rouleau, EL; Guinebretiere, JM; Tejpar, S; Biesmans, B; van Krieken, JH KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance.
Virchows Arch. 2013; 462(1):39-46 Doi: 10.1007/s00428-012-1356-2
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Wiesner, T; Fried, I; Cerroni, L; Kutzner, H Molecular biology methods to improve diagnosis and prognosis of melanocytic tumors.
J Dtsch Dermatol Ges. 2013; 11 Suppl 4(6):19-24 Doi: 10.1111/ddg.12083_supp (- Case Report)
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2012

Krone, N; Reisch, N; Idkowiak, J; Dhir, V; Ivison, HE; Hughes, BA; Rose, IT; O'Neil, DM; Vijzelaar, R; Smith, MJ; MacDonald, F; Cole, TR; Adolphs, N; Barton, JS; Blair, EM; Braddock, SR; Collins, F; Cragun, DL; Dattani, MT; Day, R; Dougan, S; Feist, M; Gottschalk, ME; Gregory, JW; Haim, M; Harrison, R; Olney, AH; Hauffa, BP; Hindmarsh, PC; Hopkin, RJ; Jira, PE; Kempers, M; Kerstens, MN; Khalifa, MM; Köhler, B; Maiter, D; Nielsen, S; O'Riordan, SM; Roth, CL; Shane, KP; Silink, M; Stikkelbroeck, NM; Sweeney, E; Szarras-Czapnik, M; Waterson, JR; Williamson, L; Hartmann, MF; Taylor, NF; Wudy, SA; Malunowicz, EM; Shackleton, CH; Arlt, W Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
J Clin Endocrinol Metab. 2012; 97(2):E257-E267 Doi: 10.1210/jc.2011-0640 [OPEN ACCESS]
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van Krieken, JH; Hoefler, G The times have changed: molecular pathology is here to stay. A commentary on: analytical performance of a PCR assay for the detection of KRAS mutations (codons 12/13 and 61) in formalin-fixed paraffin-embedded tissue samples of colorectal carcinoma, by Lee et al. In this issue.
VIRCHOWS ARCH. 2012; 460(2): 129-130. Doi: 10.1007/s00428-012-1197-z [OPEN ACCESS]
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2011

Auer-Grumbach, M; Weger, M; Fink-Puches, R; Papić, L; Fröhlich, E; Auer-Grumbach, P; El Shabrawi-Caelen, L; Schabhüttl, M; Windpassinger, C; Senderek, J; Budka, H; Trajanoski, S; Janecke, AR; Haas, A; Metze, D; Pieber, TR; Guelly, C Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain. 2011; 134(Pt 6):1839-1852 Doi: 10.1093/brain/awr076 [OPEN ACCESS]
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Shalaby, A; Presneau, N; Ye, H; Halai, D; Berisha, F; Idowu, B; Leithner, A; Liegl, B; Briggs, TR; Bacsi, K; Kindblom, LG; Athanasou, N; Amary, MF; Hogendoorn, PC; Tirabosco, R; Flanagan, AM The role of epidermal growth factor receptor in chordoma pathogenesis: a potential therapeutic target.
J Pathol. 2011; 223(3): 336-346. Doi: 10.1002/path.2818
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2009

Auner, V; Kriegshäuser, G; Tong, D; Horvat, R; Reinthaller, A; Mustea, A; Zeillinger, R KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.
BMC Cancer. 2009; 9(1): 111-111. Doi: 10.1186/1471-2407-9-111 [OPEN ACCESS]
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Ausch, C; Buxhofer-Ausch, V; Oberkanins, C; Holzer, B; Minai-Pour, M; Jahn, S; Dandachi, N; Zeillinger, R; Kriegshäuser, G Sensitive detection of KRAS mutations in archived formalin-fixed paraffin-embedded tissue using mutant-enriched PCR and reverse-hybridization.
J Mol Diagn. 2009; 11(6):508-513 Doi: 10.2353/jmoldx.2009.090022 [OPEN ACCESS]
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Pichler, M; Balic, M; Stadelmeyer, E; Ausch, C; Wild, M; Guelly, C; Bauernhofer, T; Samonigg, H; Hoefler, G; Dandachi, N Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors.
J Mol Diagn. 2009; 11(2):140-147 Doi: 10.2353/jmoldx.2009.080100 [OPEN ACCESS]
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Schweiger, MR; Kerick, M; Timmermann, B; Albrecht, MW; Borodina, T; Parkhomchuk, D; Zatloukal, K; Lehrach, H Genome-wide massively parallel sequencing of formaldehyde fixed-paraffin embedded (FFPE) tumor tissues for copy-number- and mutation-analysis.
PLoS One. 2009; 4(5): e5548-e5548. Doi: 10.1371/journal.pone.0005548 [OPEN ACCESS]
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2008

Stojanov, S; Dejaco, C; Lohse, P; Huss, K; Duftner, C; Belohradsky, BH; Herold, M; Schirmer, M Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.
Ann Rheum Dis. 2008; 67(9): 1292-1298. Doi: 10.1136/ard.2007.079376 [OPEN ACCESS]
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2007

Kriegshäuser, G; Halsall, D; Rauscher, B; Oberkanins, C Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.
Mol Cell Probes. 2007; 21(3): 226-228. Doi: 10.1016/j.mcp.2007.01.001
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2006

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, JI; Baumgartner, D A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations.
J Biomed Inform. 2006; 39(2):171-183 Doi: 10.1016/j.jbi.2005.06.001 [OPEN ACCESS]
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Tschernutter, M; Jenkins, SA; Waseem, NH; Saihan, Z; Holder, GE; Bird, AC; Bhattacharya, SS; Ali, RR; Webster, AR Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
Br J Ophthalmol. 2006; 90(6): 718-723. Doi: 10.1136/bjo.2005.084897 [OPEN ACCESS]
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Wiktor-Brown, DM; Hendricks, CA; Olipitz, W; Rogers, AB; Engelward, BP Applications of fluorescence for detecting rare sequence rearrangements in vivo.
Cell Cycle. 2006; 5(23):2715-2719 Doi: 10.4161/cc.5.23.3527 [OPEN ACCESS]
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2005

Auer-Grumbach, M; Schlotter-Weigel, B; Lochmüller, H; Strobl-Wildemann, G; Auer-Grumbach, P; Fischer, R; Offenbacher, H; Zwick, EB; Robl, T; Hartl, G; Hartung, HP; Wagner, K; Windpassinger, C; Austrian Peripheral Neuropathy Study Group Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Ann Neurol. 2005; 57(3):415-424 Doi: 10.1002/ana.20410
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Schuster, A; Weisschuh, N; Jägle, H; Besch, D; Janecke, AR; Zierler, H; Tippmann, S; Zrenner, E; Wissinger, B Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Br J Ophthalmol. 2005; 89(10):1258-1264 Doi: 10.1136/bjo.2004.063933 [OPEN ACCESS]
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2004

Tomatsu, S; Nishioka, T; Montaño, AM; Gutierrez, MA; Pena, OS; Orii, KO; Sly, WS; Yamaguchi, S; Orii, T; Paschke, E; Kircher, SG; Noguchi, A Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
J Med Genet. 2004; 41(7):e98-e98 Doi: 10.1136/jmg.2003.018010 [OPEN ACCESS]
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2003

Basset-Seguin, N; Ibbotson, S; Emtestam, L; Tarstedt, M; Morton, C; Maroti, M; Cazavara-Pinton, P; Varma, S; Roelandts, R; Wolf, P; Saksela, O; Rosdahl, I Photodynamic therapy using methyl aminolaevulinate is as efficacious as cryotherapy in basal cell carcinoma, with better cosmetic results.
BRIT J DERMATOL. 2003; 149(1):46-46.-83rd Annual Meeting of the British Association of Dermatologists; JUL 01-04, 2003; BRIGHTON, ENGLAND.
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1993

du Manoir, S; Speicher, MR; Joos, S; Schröck, E; Popp, S; Döhner, H; Kovacs, G; Robert-Nicoud, M; Lichter, P; Cremer, T Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization.
Hum Genet. 1993; 90(6):590-610 Doi: 10.1007/BF00202476
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