Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: GENETIC TESTING - METHODS , . Treffer: 21
2020
Jahn, SW; Bösl, A; Tsybrovskyy, O; Gruber-Rossipal, C; Helfgott, R; Fitzal, F; Knauer, M; Balic, M; Jasarevic, Z; Offner, F; Moinfar, F
Clinically high-risk breast cancer displays markedly discordant molecular risk predictions between the MammaPrint and EndoPredict tests.
Br J Cancer. 2020; 122(12):1744-1746
Doi: 10.1038/s41416-020-0838-2
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2019
Kunkle, BW; Grenier-Boley, B; Sims, R; Bis, JC; Damotte, V; Naj, AC; Boland, A; Vronskaya, M; van der Lee, SJ; Amlie-Wolf, A; Bellenguez, C; Frizatti, A; Chouraki, V; Martin, ER; Sleegers, K; Badarinarayan, N; Jakobsdottir, J; Hamilton-Nelson, KL; Moreno-Grau, S; Olaso, R; Raybould, R; Chen, Y; Kuzma, AB; Hiltunen, M; Morgan, T; Ahmad, S; Vardarajan, BN; Epelbaum, J; Hoffmann, P; Boada, M; Beecham, GW; Garnier, JG; Harold, D; Fitzpatrick, AL; Valladares, O; Moutet, ML; Gerrish, A; Smith, AV; Qu, L; Bacq, D; Denning, N; Jian, X; Zhao, Y; Del Zompo, M; Fox, NC; Choi, SH; Mateo, I; Hughes, JT; Adams, HH; Malamon, J; Sanchez-Garcia, F; Patel, Y; Brody, JA; Dombroski, BA; Naranjo, MCD; Daniilidou, M; Eiriksdottir, G; Mukherjee, S; Wallon, D; Uphill, J; Aspelund, T; Cantwell, LB; Garzia, F; Galimberti, D; Hofer, E; Butkiewicz, M; Fin, B; Scarpini, E; Sarnowski, C; Bush, WS; Meslage, S; Kornhuber, J; White, CC; Song, Y; Barber, RC; Engelborghs, S; Sordon, S; Voijnovic, D; Adams, PM; Vandenberghe, R; Mayhaus, M; Cupples, LA; Albert, MS; De Deyn, PP; Gu, W; Himali, JJ; Beekly, D; Squassina, A; Hartmann, AM; Orellana, A; Blacker, D; Rodriguez-Rodriguez, E; Lovestone, S; Garcia, ME; Doody, RS; Munoz-Fernadez, C; Sussams, R; Lin, H; Fairchild, TJ; Benito, YA; Holmes, C; Karamujić-Čomić, H; Frosch, MP; Thonberg, H; Maier, W; Roschupkin, G; Ghetti, B; Giedraitis, V; Kawalia, A; Li, S; Huebinger, RM; Kilander, L; Moebus, S; Hernández, I; Kamboh, MI; Brundin, R; Turton, J; Yang, Q; Katz, MJ; Concari, L; Lord, J; Beiser, AS; Keene, CD; Helisalmi, S; Kloszewska, I; Kukull, WA; Koivisto, AM; Lynch, A; Tarraga, L; Larson, EB; Haapasalo, A; Lawlor, B; Mosley, TH; Lipton, RB; Solfrizzi, V; Gill, M; Longstreth, WT; Montine, TJ; Frisardi, V; Diez-Fairen, M; Rivadeneira, F; Petersen, RC; Deramecourt, V; Alvarez, I; Salani, F; Ciaramella, A; Boerwinkle, E; Reiman, EM; Fievet, N; Rotter, JI; Reisch, JS; Hanon, O; Cupidi, C; Andre Uitterlinden, AG; Royall, DR; Dufouil, C; Maletta, RG; de Rojas, I; Sano, M; Brice, A; Cecchetti, R; George-Hyslop, PS; Ritchie, K; Tsolaki, M; Tsuang, DW; Dubois, B; Craig, D; Wu, CK; Soininen, H; Avramidou, D; Albin, RL; Fratiglioni, L; Germanou, A; Apostolova, LG; Keller, L; Koutroumani, M; Arnold, SE; Panza, F; Gkatzima, O; Asthana, S; Hannequin, D; Whitehead, P; Atwood, CS; Caffarra, P; Hampel, H; Quintela, I; Carracedo, Á; Lannfelt, L; Rubinsztein, DC; Barnes, LL; Pasquier, F; Frölich, L; Barral, S; McGuinness, B; Beach, TG; Johnston, JA; Becker, JT; Passmore, P; Bigio, EH; Schott, JM; Bird, TD; Warren, JD; Boeve, BF; Lupton, MK; Bowen, JD; Proitsi, P; Boxer, A; Powell, JF; Burke, JR; Kauwe, JSK; Burns, JM; Mancuso, M; Buxbaum, JD; Bonuccelli, U; Cairns, NJ; McQuillin, A; Cao, C; Livingston, G; Carlson, CS; Bass, NJ; Carlsson, CM; Hardy, J; Carney, RM; Bras, J; Carrasquillo, MM; Guerreiro, R; Allen, M; Chui, HC; Fisher, E; Masullo, C; Crocco, EA; DeCarli, C; Bisceglio, G; Dick, M; Ma, L; Duara, R; Graff-Radford, NR; Evans, DA; Hodges, A; Faber, KM; Scherer, M; Fallon, KB; Riemenschneider, M; Fardo, DW; Heun, R; Farlow, MR; Kölsch, H; Ferris, S; Leber, M; Foroud, TM; Heuser, I; Galasko, DR; Giegling, I; Gearing, M; Hüll, M; Geschwind, DH; Gilbert, JR; Morris, J; Green, RC; Mayo, K; Growdon, JH; Feulner, T; Hamilton, RL; Harrell, LE; Drichel, D; Honig, LS; Cushion, TD; Huentelman, MJ; Hollingworth, P; Hulette, CM; Hyman, BT; Marshall, R; Jarvik, GP; Meggy, A; Abner, E; Menzies, GE; Jin, LW; Leonenko, G; Real, LM; Jun, GR; Baldwin, CT ...
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nat Genet. 2019; 51(3): 414-430.
Doi: 10.1038/s41588-019-0358-2
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Mann, K; Petek, E; Pertl, B
Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.
Methods Mol Biol. 2019; 1885: 139-160.
Doi: 10.1007/978-1-4939-8889-1_10
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2017
Schmidt, N; Grammer, T; Gouni-Berthold, I; Julius, U; Kassner, U; Klose, G; König, C; Laufs, U; Otte, B; Steinhagen-Thiessen, E; Wanner, C; März, W
CaRe high - Cascade screening and registry for high cholesterol in Germany.
Atheroscler Suppl. 2017; 30(1):72-76
Doi: 10.1016/j.atherosclerosissup.2017.05.015
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2016
Endris, V; Stenzinger, A; Pfarr, N; Penzel, R; Möbs, M; Lenze, D; Darb-Esfahani, S; Hummel, M; Sabine-Merkelbach-Bruse, M; Jung, A; Lehmann, U; Kreipe, H; Kirchner, T; Büttner, R; Jochum, W; Höfler, G; Dietel, M; Weichert, W; Schirmacher, P
NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
Virchows Arch. 2016; 468(6):697-705
Doi: 10.1007/s00428-016-1919-8
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Paar, C; Hammerl, V; Blessberger, H; Stekel, H; Steinwender, C; Berg, J
Conditions of High Resolution Melting Analysis on the Cobas z480 Instrument for the Genotyping of VKORC1 in the Clinical Routine Laboratory.
Clin Lab. 2016; 62(12):2461-2467
Doi: 10.7754/Clin.Lab.2016.160616
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Traylor, M; Zhang, CR; Adib-Samii, P; Devan, WJ; Parsons, OE; Lanfranconi, S; Gregory, S; Cloonan, L; Falcone, GJ; Radmanesh, F; Fitzpatrick, K; Kanakis, A; Barrick, TR; Moynihan, B; Lewis, CM; Boncoraglio, GB; Lemmens, R; Thijs, V; Sudlow, C; Wardlaw, J; Rothwell, PM; Meschia, JF; Worrall, BB; Levi, C; Bevan, S; Furie, KL; Dichgans, M; Rosand, J; Markus, HS; Rost, N; International Stroke Genetics Consortium
Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.
Neurology. 2016; 86(2):146-153
Doi: 10.1212/WNL.0000000000002263
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2014
Klose, G; Laufs, U; März, W; Windler, E
Familial hypercholesterolemia: developments in diagnosis and treatment.
Dtsch Arztebl Int. 2014; 111(31-32):523-529
Doi: 10.3238/arztebl.2014.0523
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Stiegelbauer, V; Perakis, S; Deutsch, A; Ling, H; Gerger, A; Pichler, M
MicroRNAs as novel predictive biomarkers and therapeutic targets in colorectal cancer.
World J Gastroenterol. 2014; 20(33):11727-11735
Doi: 10.3748/wjg.v20.i33.11727
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2013
Heitzer, E; Lax, S; Lafer, I; Müller, SM; Pristauz, G; Ulz, P; Jahn, S; Högenauer, C; Petru, E; Speicher, MR; Geigl, JB
Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
BMC Med Genet. 2013; 14(1):129-129
Doi: 10.1186/1471-2350-14-129
(- Case Report)
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Venhoff, N; Emmerich, F; Neagu, M; Salzer, U; Koehn, C; Driever, S; Kreisel, W; Rizzi, M; Effelsberg, NM; Kollert, F; Goldacker, S; Voll, RE; Warnatz, K; Thiel, J
The role of HLA DQ2 and DQ8 in dissecting celiac-like disease in common variable immunodeficiency.
J CLIN IMMUNOL. 2013; 33(5): 909-16.
Doi: 10.1007/s10875-013-9892-3
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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
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2012
Löffler, T; Flunkert, S; Taub, N; Schofield, EL; Ward, MA; Windisch, M; Hutter-Paier, B
Stable mutated tau441 transfected SH-SY5Y cells as screening tool for Alzheimer's disease drug candidates.
J Mol Neurosci. 2012; 47(1): 192-203.
Doi: 10.1007/s12031-012-9716-6
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McMurray, JJ; Adamopoulos, S; Anker, SD; Auricchio, A; Böhm, M; Dickstein, K; Falk, V; Filippatos, G; Fonseca, C; Gomez-Sanchez, MA; Jaarsma, T; Køber, L; Lip, GY; Maggioni, AP; Parkhomenko, A; Pieske, BM; Popescu, BA; Rønnevik, PK; Rutten, FH; Schwitter, J; Seferovic, P; Stepinska, J; Trindade, PT; Voors, AA; Zannad, F; Zeiher, A; ESC Committee for Practice Guidelines
ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association (HFA) of the ESC.
Eur Heart J. 2012; 33(14): 1787-1847.
Doi: 10.1093/eurheartj/ehs104
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Quarrell, OW; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, GB; European Huntingtonâs Disease Network
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Eur J Hum Genet. 2012; 20(1): 20-26.
Doi: 10.1038/ejhg.2011.136
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2011
Pfarr, N; Szamalek-Hoegel, J; Fischer, C; Hinderhofer, K; Nagel, C; Ehlken, N; Tiede, H; Olschewski, H; Reichenberger, F; Ghofrani, AH; Seeger, W; Grünig, E
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Respir Res. 2011; 12(12):99-99
Doi: 10.1186/1465-9921-12-99
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Poetsch, M; Kamphausen, T; Bajanowski, T; Schwark, T; von Wurmb-Schwark, N
Powerplex® ES versus Powerplex® S5--casework testing of the new screening kit.
Forensic Sci Int Genet. 2011; 5(1): 57-63.
Doi: 10.1016/j.fsigen.2009.11.002
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2010
Birkhahn, M; Mitra, AP; Williams, AJ; Lam, G; Ye, W; Datar, RH; Balic, M; Groshen, S; Steven, KE; Cote, RJ
Predicting recurrence and progression of noninvasive papillary bladder cancer at initial presentation based on quantitative gene expression profiles.
Eur Urol. 2010; 57(1):12-20
Doi: 10.1016/j.eururo.2009.09.013
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Pichler, M; Beckendorf, J; Winter, E; Kleinert, R; Kniepeiss, D; Hoefler, G
Quantitative short-tandem repeat analysis of recipient-derived cells as an additional tool for diagnosing cardiac allograft rejection.
Transplantation. 2010; 89(6): 749-755.
Doi: 10.1097/TP.0b013e3181cab05c
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Speicher, MR; Geigl, JB; Tomlinson, IP
Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk.
Lancet Oncol. 2010; 11(9): 890-898.
Doi: 10.1016/S1470-2045(09)70359-6
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2007
Kerber, M; Oberkanins, C; Kriegshäuser, G; Kollerits, B; Dossenbach-Glaninger, A; Fuchs, D; Ledochowski, M
Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: a matter of age?
Clin Chim Acta. 2007; 383(1-2): 91-96.
Doi: 10.1016/j.cca.2007.04.028
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