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Publikationen

Suchbegriffe: GENETIC VARIATION - GENETICS , . Treffer: 29

2021

Schneeberger, PE; Nampoothiri, S; Holling, T; Yesodharan, D; Alawi, M; Knisely, AS; Müller, T; Plecko, B; Janecke, AR; Kutsche, K Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
BRAIN. 2021; 144(10): 3036-3049. Doi: 10.1093/brain/awab206 (- Case Report)
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2020

Zech, M; Jech, R; Boesch, S; Škorvánek, M; Weber, S; Wagner, M; Zhao, C; Jochim, A; Necpál, J; Dincer, Y; Vill, K; Distelmaier, F; Stoklosa, M; Krenn, M; Grunwald, S; Bock-Bierbaum, T; Fečíková, A; Havránková, P; Roth, J; Příhodová, I; Adamovičová, M; Ulmanová, O; Bechyně, K; Danhofer, P; Veselý, B; Haň, V; Pavelekova, P; Gdovinová, Z; Mantel, T; Meindl, T; Sitzberger, A; Schröder, S; Blaschek, A; Roser, T; Bonfert, MV; Haberlandt, E; Plecko, B; Leineweber, B; Berweck, S; Herberhold, T; Langguth, B; Švantnerová, J; Minár, M; Ramos-Rivera, GA; Wojcik, MH; Pajusalu, S; Õunap, K; Schatz, UA; Pölsler, L; Milenkovic, I; Laccone, F; Pilshofer, V; Colombo, R; Patzer, S; Iuso, A; Vera, J; Troncoso, M; Fang, F; Prokisch, H; Wilbert, F; Eckenweiler, M; Graf, E; Westphal, DS; Riedhammer, KM; Brunet, T; Alhaddad, B; Berutti, R; Strom, TM; Hecht, M; Baumann, M; Wolf, M; Telegrafi, A; Person, RE; Zamora, FM; Henderson, LB; Weise, D; Musacchio, T; Volkmann, J; Szuto, A; Becker, J; Cremer, K; Sycha, T; Zimprich, F; Kraus, V; Makowski, C; Gonzalez-Alegre, P; Bardakjian, TM; Ozelius, LJ; Vetro, A; Guerrini, R; Maier, E; Borggraefe, I; Kuster, A; Wortmann, SB; Hackenberg, A; Steinfeld, R; Assmann, B; Staufner, C; Opladen, T; Růžička, E; Cohn, RD; Dyment, D; Chung, WK; Engels, H; Ceballos-Baumann, A; Ploski, R; Daumke, O; Haslinger, B; Mall, V; Oexle, K; Winkelmann, J Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol. 2020; 19(11):908-918 Doi: 10.1016/S1474-4422(20)30312-4 [OPEN ACCESS]
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2018

Zulus, B; Grünbacher, G; Kleber, ME; März, W; Renner, W The UGT1A1*28 gene variant predicts long-term mortality in patients undergoing coronary angiography.
Clin Chem Lab Med. 2018; 56(4):560-564 Doi: 10.1515/cclm-2017-0692 [OPEN ACCESS]
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2016

Feichtinger, J; Hernández, I; Fischer, C; Hanscho, M; Auer, N; Hackl, M; Jadhav, V; Baumann, M; Krempl, PM; Schmidl, C; Farlik, M; Schuster, M; Merkel, A; Sommer, A; Heath, S; Rico, D; Bock, C; Thallinger, GG; Borth, N Comprehensive genome and epigenome characterization of CHO cells in response to evolutionary pressures and over time.
Biotechnol Bioeng. 2016; 113(10): 2241-2253. Doi: 10.1002/bit.25990 [OPEN ACCESS]
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Ibrahim-Verbaas, CA; Bressler, J; Debette, S; Schuur, M; Smith, AV; Bis, JC; Davies, G; Trompet, S; Smith, JA; Wolf, C; Chibnik, LB; Liu, Y; Vitart, V; Kirin, M; Petrovic, K; Polasek, O; Zgaga, L; Fawns-Ritchie, C; Hoffmann, P; Karjalainen, J; Lahti, J; Llewellyn, DJ; Schmidt, CO; Mather, KA; Chouraki, V; Sun, Q; Resnick, SM; Rose, LM; Oldmeadow, C; Stewart, M; Smith, BH; Gudnason, V; Yang, Q; Mirza, SS; Jukema, JW; deJager, PL; Harris, TB; Liewald, DC; Amin, N; Coker, LH; Stegle, O; Lopez, OL; Schmidt, R; Teumer, A; Ford, I; Karbalai, N; Becker, JT; Jonsdottir, MK; Au, R; Fehrmann, R; Herms, S; Nalls, M; Zhao, W; Turner, ST; Yaffe, K; Lohman, K; van Swieten, JC; Kardia, S; Knopman, DS; Meeks, WM; Heiss, G; Holliday, EG; Schofield, PW; Tanaka, T; Stott, DJ; Wang, J; Ridker, P; Gow, AJ; Pattie, A; Starr, JM; Hocking, LJ; Armstrong, NJ; McLachlan, S; Shulman, JM; Pilling, LC; Eiriksdottir, G; Scott, RJ; Kochan, NA; Palotie, A; Hsieh, YC; Eriksson, JG; Penman, A; Gottesman, RF; Oostra, BA; Yu, L; DeStefano, AL; Beiser, A; Garcia, M; Rotter, JI; Nöthen, MM; Hofman, A; Slagboom, PE; Westendorp, R; Buckley, BM; Wolf, PA; Uitterlinden, AG; Psaty, BM; Grabe, HJ; Bandinelli, S; Chasman, DI; Grodstein, F; Räikkönen, K; Lambert, JC; Porteous, DJ; Generation Scotland; Price, JF; Sachdev, PS; Ferrucci, L; Attia, JR; Rudan, I; Hayward, C; Wright, AF; Wilson, JF; Cichon, S; Franke, L; Schmidt, H; Ding, J; de Craen, A; Fornage, M; Bennett, DA; Deary, IJ; Ikram, MA; Launer, LJ; Fitzpatrick, AL; Seshadri, S; van Duijn, CM; Mosley, TH GWAS for executive function and processing speed suggests involvement of the CADM2 gene.
Mol Psychiatry. 2016; 21(2):189-197 Doi: 10.1038/mp.2015.37 [OPEN ACCESS]
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2015

Hibar, DP; Stein, JL; Renteria, ME; Arias-Vasquez, A; Desrivières, S; Jahanshad, N; Toro, R; Wittfeld, K; Abramovic, L; Andersson, M; Aribisala, BS; Armstrong, NJ; Bernard, M; Bohlken, MM; Boks, MP; Bralten, J; Brown, AA; Chakravarty, MM; Chen, Q; Ching, CR; Cuellar-Partida, G; den Braber, A; Giddaluru, S; Goldman, AL; Grimm, O; Guadalupe, T; Hass, J; Woldehawariat, G; Holmes, AJ; Hoogman, M; Janowitz, D; Jia, T; Kim, S; Klein, M; Kraemer, B; Lee, PH; Olde Loohuis, LM; Luciano, M; Macare, C; Mather, KA; Mattheisen, M; Milaneschi, Y; Nho, K; Papmeyer, M; Ramasamy, A; Risacher, SL; Roiz-Santiañez, R; Rose, EJ; Salami, A; Sämann, PG; Schmaal, L; Schork, AJ; Shin, J; Strike, LT; Teumer, A; van Donkelaar, MM; van Eijk, KR; Walters, RK; Westlye, LT; Whelan, CD; Winkler, AM; Zwiers, MP; Alhusaini, S; Athanasiu, L; Ehrlich, S; Hakobjan, MM; Hartberg, CB; Haukvik, UK; Heister, AJ; Hoehn, D; Kasperaviciute, D; Liewald, DC; Lopez, LM; Makkinje, RR; Matarin, M; Naber, MA; McKay, DR; Needham, M; Nugent, AC; Pütz, B; Royle, NA; Shen, L; Sprooten, E; Trabzuni, D; van der Marel, SS; van Hulzen, KJ; Walton, E; Wolf, C; Almasy, L; Ames, D; Arepalli, S; Assareh, AA; Bastin, ME; Brodaty, H; Bulayeva, KB; Carless, MA; Cichon, S; Corvin, A; Curran, JE; Czisch, M; de Zubicaray, GI; Dillman, A; Duggirala, R; Dyer, TD; Erk, S; Fedko, IO; Ferrucci, L; Foroud, TM; Fox, PT; Fukunaga, M; Gibbs, JR; Göring, HH; Green, RC; Guelfi, S; Hansell, NK; Hartman, CA; Hegenscheid, K; Heinz, A; Hernandez, DG; Heslenfeld, DJ; Hoekstra, PJ; Holsboer, F; Homuth, G; Hottenga, JJ; Ikeda, M; Jack, CR; Jenkinson, M; Johnson, R; Kanai, R; Keil, M; Kent, JW; Kochunov, P; Kwok, JB; Lawrie, SM; Liu, X; Longo, DL; McMahon, KL; Meisenzahl, E; Melle, I; Mohnke, S; Montgomery, GW; Mostert, JC; Mühleisen, TW; Nalls, MA; Nichols, TE; Nilsson, LG; Nöthen, MM; Ohi, K; Olvera, RL; Perez-Iglesias, R; Pike, GB; Potkin, SG; Reinvang, I; Reppermund, S; Rietschel, M; Romanczuk-Seiferth, N; Rosen, GD; Rujescu, D; Schnell, K; Schofield, PR; Smith, C; Steen, VM; Sussmann, JE; Thalamuthu, A; Toga, AW; Traynor, BJ; Troncoso, J; Turner, JA; Valdés Hernández, MC; van 't Ent, D; van der Brug, M; van der Wee, NJ; van Tol, MJ; Veltman, DJ; Wassink, TH; Westman, E; Zielke, RH; Zonderman, AB; Ashbrook, DG; Hager, R; Lu, L; McMahon, FJ; Morris, DW; Williams, RW; Brunner, HG; Buckner, RL; Buitelaar, JK; Cahn, W; Calhoun, VD; Cavalleri, GL; Crespo-Facorro, B; Dale, AM; Davies, GE; Delanty, N; Depondt, C; Djurovic, S; Drevets, WC; Espeseth, T; Gollub, RL; Ho, BC; Hoffmann, W; Hosten, N; Kahn, RS; Le Hellard, S; Meyer-Lindenberg, A; Müller-Myhsok, B; Nauck, M; Nyberg, L; Pandolfo, M; Penninx, BW; Roffman, JL; Sisodiya, SM; Smoller, JW; van Bokhoven, H; van Haren, NE; Völzke, H; Walter, H; Weiner, MW; Wen, W; White, T; Agartz, I; Andreassen, OA; Blangero, J; Boomsma, DI; Brouwer, RM; Cannon, DM; Cookson, MR; de Geus, EJ; Deary, IJ; Donohoe, G; Fernández, G; Fisher, SE; Francks, C; Glahn, DC; Grabe, HJ; Gruber, O; Hardy, J; Hashimoto, R; Hulshoff Pol, HE; Jönsson, EG; Kloszewska, I; Lovestone, S; Mattay, VS; Mecocci, P; McDonald, C; McIntosh, AM; Ophoff, RA; Paus, T; Pausova, Z; Ryten, M; Sachdev, PS; Saykin, AJ; Simmons, A; Singleton, A; Soininen, H; Wardlaw, JM; Weale, ME; Weinberger, DR; Adams, HH; Launer, LJ; Seiler, S; Schmidt, R; Chauhan, G; Satizabal, CL; Becker, JT; Yanek, L; van der Lee, SJ; Ebling, M; Fischl, B; Longstreth, WT; Greve, D; Schmidt, H; Nyquist, P; Vinke, LN; van Duijn, CM; Xue, L; Mazoyer, B; Bis ... Common genetic variants influence human subcortical brain structures.
Nature. 2015; 520(7546): 224-229. Doi: 10.1038/nature14101 [OPEN ACCESS]
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Rannikmäe, K; Davies, G; Thomson, PA; Bevan, S; Devan, WJ; Falcone, GJ; Traylor, M; Anderson, CD; Battey, TW; Radmanesh, F; Deka, R; Woo, JG; Martin, LJ; Jimenez-Conde, J; Selim, M; Brown, DL; Silliman, SL; Kidwell, CS; Montaner, J; Langefeld, CD; Slowik, A; Hansen, BM; Lindgren, AG; Meschia, JF; Fornage, M; Bis, JC; Debette, S; Ikram, MA; Longstreth, WT; Schmidt, R; Zhang, CR; Yang, Q; Sharma, P; Kittner, SJ; Mitchell, BD; Holliday, EG; Levi, CR; Attia, J; Rothwell, PM; Poole, DL; Boncoraglio, GB; Psaty, BM; Malik, R; Rost, N; Worrall, BB; Dichgans, M; Van Agtmael, T; Woo, D; Markus, HS; Seshadri, S; Rosand, J; Sudlow, CL; METASTROKE Consortium; CHARGE WMH Group; ISGC ICH GWAS Study Collaboration; WMH in Ischemic Stroke GWAS Study Collaboration; International Stroke Genetics Consortium Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
Neurology. 2015; 84(9):918-926 Doi: 10.1212/WNL.0000000000001309 [OPEN ACCESS]
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UK10K Consortium; Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JR; Xu, C; Futema, M; Lawson, D; Iotchkova, V; Schiffels, S; Hendricks, AE; Danecek, P; Li, R; Floyd, J; Wain, LV; Barroso, I; Humphries, SE; Hurles, ME; Zeggini, E; Barrett, JC; Plagnol, V; Richards, JB; Greenwood, CM; Timpson, NJ; Durbin, R; Soranzo, N The UK10K project identifies rare variants in health and disease.
Nature. 2015; 526(7571):82-90 Doi: 10.1038/nature14962 [OPEN ACCESS]
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Zheng, HF; Forgetta, V; Hsu, YH; Estrada, K; Rosello-Diez, A; Leo, PJ; Dahia, CL; Park-Min, KH; Tobias, JH; Kooperberg, C; Kleinman, A; Styrkarsdottir, U; Liu, CT; Uggla, C; Evans, DS; Nielson, CM; Walter, K; Pettersson-Kymmer, U; McCarthy, S; Eriksson, J; Kwan, T; Jhamai, M; Trajanoska, K; Memari, Y; Min, J; Huang, J; Danecek, P; Wilmot, B; Li, R; Chou, WC; Mokry, LE; Moayyeri, A; Claussnitzer, M; Cheng, CH; Cheung, W; Medina-Gómez, C; Ge, B; Chen, SH; Choi, K; Oei, L; Fraser, J; Kraaij, R; Hibbs, MA; Gregson, CL; Paquette, D; Hofman, A; Wibom, C; Tranah, GJ; Marshall, M; Gardiner, BB; Cremin, K; Auer, P; Hsu, L; Ring, S; Tung, JY; Thorleifsson, G; Enneman, AW; van, Schoor, NM; de, Groot, LC; van, der, Velde, N; Melin, B; Kemp, JP; Christiansen, C; Sayers, A; Zhou, Y; Calderari, S; van, Rooij, J; Carlson, C; Peters, U; Berlivet, S; Dostie, J; Uitterlinden, AG; Williams, SR; Farber, C; Grinberg, D; LaCroix, AZ; Haessler, J; Chasman, DI; Giulianini, F; Rose, LM; Ridker, PM; Eisman, JA; Nguyen, TV; Center, JR; Nogues, X; Garcia-Giralt, N; Launer, LL; Gudnason, V; Mellström, D; Vandenput, L; Amin, N; van, Duijn, CM; Karlsson, MK; Ljunggren, Ö; Svensson, O; Hallmans, G; Rousseau, F; Giroux, S; Bussière, J; Arp, PP; Koromani, F; Prince, RL; Lewis, JR; Langdahl, BL; Hermann, AP; Jensen, JE; Kaptoge, S; Khaw, KT; Reeve, J; Formosa, MM; Xuereb-Anastasi, A; Åkesson, K; McGuigan, FE; Garg, G; Olmos, JM; Zarrabeitia, MT; Riancho, JA; Ralston, SH; Alonso, N; Jiang, X; Goltzman, D; Pastinen, T; Grundberg, E; Gauguier, D; Orwoll, ES; Karasik, D; Davey-Smith, G; Smith, AV; Siggeirsdottir, K; Harris, TB; Zillikens, MC; van, Meurs, JB; Thorsteinsdottir, U; Maurano, MT; Timpson, NJ; Soranzo, N; Durbin, R; Wilson, SG; Ntzani, EE; Brown, MA; Stefansson, K; Hinds, DA; Spector, T; Cupples, LA; Ohlsson, C; Greenwood, CM; Jackson, RD; Rowe, DW; Loomis, CA; Evans, DM; Ackert-Bicknell, CL; Joyner, AL; Duncan, EL; Kiel, DP; Rivadeneira, F; Richards, JB, , AOGC, Consortium;UK10K, Consortium Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Nature. 2015; 526(7571): 112-7. Doi: 10.1038/nature14878 [OPEN ACCESS]
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2014

Langsenlehner, T; Thurner, EM; Renner, W; Gerger, A; Kapp, KS; Langsenlehner, U Association of genetic variants in VEGF-A with clinical recurrence in prostate cancer patients treated with definitive radiotherapy.
Strahlenther Onkol. 2014; 190(4):364-369 Doi: 10.1007/s00066-013-0503-2
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Province, MA; Goetz, MP; Brauch, H; Flockhart, DA; Hebert, JM; Whaley, R; Suman, VJ; Schroth, W; Winter, S; Zembutsu, H; Mushiroda, T; Newman, WG; Lee, MT; Ambrosone, CB; Beckmann, MW; Choi, JY; Dieudonné, AS; Fasching, PA; Ferraldeschi, R; Gong, L; Haschke-Becher, E; Howell, A; Jordan, LB; Hamann, U; Kiyotani, K; Krippl, P; Lambrechts, D; Latif, A; Langsenlehner, U; Lorizio, W; Neven, P; Nguyen, AT; Park, BW; Purdie, CA; Quinlan, P; Renner, W; Schmidt, M; Schwab, M; Shin, JG; Stingl, JC; Wegman, P; Wingren, S; Wu, AH; Ziv, E; Zirpoli, G; Thompson, AM; Jordan, VC; Nakamura, Y; Altman, RB; Ames, MM; Weinshilboum, RM; Eichelbaum, M; Ingle, JN; Klein, TE; International Tamoxifen Pharmacogenomics Consortium CYP2D6 genotype and adjuvant tamoxifen: meta-analysis of heterogeneous study populations.
Clin Pharmacol Ther. 2014; 95(2):216-227 Doi: 10.1038/clpt.2013.186 [OPEN ACCESS]
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Reinthaler, EM; Lal, D; Jurkowski, W; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Geldner, J; Haberlandt, E; Neophytou, B; Hahn, A; Altmüller, J; Thiele, H; Toliat, MR; EuroEPINOMICS Consortium; Lerche, H; Nürnberg, P; Sander, T; Neubauer, BA; Zimprich, F Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
EPILEPSIA. 2014; 55(8): e89-e93. Doi: 10.1111/epi.12712 [OPEN ACCESS]
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Schabhüttl, M; Wieland, T; Senderek, J; Baets, J; Timmerman, V; De Jonghe, P; Reilly, MM; Stieglbauer, K; Laich, E; Windhager, R; Erwa, W; Trajanoski, S; Strom, TM; Auer-Grumbach, M Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
J Neurol. 2014; 261(5):970-982 Doi: 10.1007/s00415-014-7289-8
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Thurner, EM; Krenn-Pilko, S; Langsenlehner, U; Renner, W; Gerger, A; Kapp, KS; Langsenlehner, T Association of genetic variants in apoptosis genes FAS and FASL with radiation-induced late toxicity after prostate cancer radiotherapy.
Strahlenther Onkol. 2014; 190(3):304-309 Doi: 10.1007/s00066-013-0485-0
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Wood, AR; Esko, T; Yang, J; Vedantam, S; Pers, TH; Gustafsson, S; Chu, AY; Estrada, K; Luan, J; Kutalik, Z; Amin, N; Buchkovich, ML; Croteau-Chonka, DC; Day, FR; Duan, Y; Fall, T; Fehrmann, R; Ferreira, T; Jackson, AU; Karjalainen, J; Lo, KS; Locke, AE; Mägi, R; Mihailov, E; Porcu, E; Randall, JC; Scherag, A; Vinkhuyzen, AA; Westra, HJ; Winkler, TW; Workalemahu, T; Zhao, JH; Absher, D; Albrecht, E; Anderson, D; Baron, J; Beekman, M; Demirkan, A; Ehret, GB; Feenstra, B; Feitosa, MF; Fischer, K; Fraser, RM; Goel, A; Gong, J; Justice, AE; Kanoni, S; Kleber, ME; Kristiansson, K; Lim, U; Lotay, V; Lui, JC; Mangino, M; Mateo Leach, I; Medina-Gomez, C; Nalls, MA; Nyholt, DR; Palmer, CD; Pasko, D; Pechlivanis, S; Prokopenko, I; Ried, JS; Ripke, S; Shungin, D; Stancáková, A; Strawbridge, RJ; Sung, YJ; Tanaka, T; Teumer, A; Trompet, S; van der Laan, SW; van Setten, J; Van Vliet-Ostaptchouk, JV; Wang, Z; Yengo, L; Zhang, W; Afzal, U; Arnlöv, J; Arscott, GM; Bandinelli, S; Barrett, A; Bellis, C; Bennett, AJ; Berne, C; Blüher, M; Bolton, JL; Böttcher, Y; Boyd, HA; Bruinenberg, M; Buckley, BM; Buyske, S; Caspersen, IH; Chines, PS; Clarke, R; Claudi-Boehm, S; Cooper, M; Daw, EW; De Jong, PA; Deelen, J; Delgado, G; Denny, JC; Dhonukshe-Rutten, R; Dimitriou, M; Doney, AS; Dörr, M; Eklund, N; Eury, E; Folkersen, L; Garcia, ME; Geller, F; Giedraitis, V; Go, AS; Grallert, H; Grammer, TB; Gräßler, J; Grönberg, H; de Groot, LC; Groves, CJ; Haessler, J; Hall, P; Haller, T; Hallmans, G; Hannemann, A; Hartman, CA; Hassinen, M; Hayward, C; Heard-Costa, NL; Helmer, Q; Hemani, G; Henders, AK; Hillege, HL; Hlatky, MA; Hoffmann, W; Hoffmann, P; Holmen, O; Houwing-Duistermaat, JJ; Illig, T; Isaacs, A; James, AL; Jeff, J; Johansen, B; Johansson, Å; Jolley, J; Juliusdottir, T; Junttila, J; Kho, AN; Kinnunen, L; Klopp, N; Kocher, T; Kratzer, W; Lichtner, P; Lind, L; Lindström, J; Lobbens, S; Lorentzon, M; Lu, Y; Lyssenko, V; Magnusson, PK; Mahajan, A; Maillard, M; McArdle, WL; McKenzie, CA; McLachlan, S; McLaren, PJ; Menni, C; Merger, S; Milani, L; Moayyeri, A; Monda, KL; Morken, MA; Müller, G; Müller-Nurasyid, M; Musk, AW; Narisu, N; Nauck, M; Nolte, IM; Nöthen, MM; Oozageer, L; Pilz, S; Rayner, NW; Renstrom, F; Robertson, NR; Rose, LM; Roussel, R; Sanna, S; Scharnagl, H; Scholtens, S; Schumacher, FR; Schunkert, H; Scott, RA; Sehmi, J; Seufferlein, T; Shi, J; Silventoinen, K; Smit, JH; Smith, AV; Smolonska, J; Stanton, AV; Stirrups, K; Stott, DJ; Stringham, HM; Sundström, J; Swertz, MA; Syvänen, AC; Tayo, BO; Thorleifsson, G; Tyrer, JP; van Dijk, S; van Schoor, NM; van der Velde, N; van Heemst, D; van Oort, FV; Vermeulen, SH; Verweij, N; Vonk, JM; Waite, LL; Waldenberger, M; Wennauer, R; Wilkens, LR; Willenborg, C; Wilsgaard, T; Wojczynski, MK; Wong, A; Wright, AF; Zhang, Q; Arveiler, D; Bakker, SJ; Beilby, J; Bergman, RN; Bergmann, S; Biffar, R; Blangero, J; Boomsma, DI; Bornstein, SR; Bovet, P; Brambilla, P; Brown, MJ; Campbell, H; Caulfield, MJ; Chakravarti, A; Collins, R; Collins, FS; Crawford, DC; Cupples, LA; Danesh, J; de Faire, U; den Ruijter, HM; Erbel, R; Erdmann, J; Eriksson, JG; Farrall, M; Ferrannini, E; Ferrières, J; Ford, I; Forouhi, NG; Forrester, T; Gansevoort, RT; Gejman, PV; Gieger, C; Golay, A; Gottesman, O; Gudnason, V; Gyllensten, U; Haas, DW; Hall, AS; Harris, TB; Hattersley, AT; Heath, AC; Hengstenberg, C; Hicks, AA; Hindorff, LA; Hingorani, AD; Hofman, A; Hovingh, GK; Humphries, SE; Hunt, SC; Hypponen, E; Jacobs, KB; Jarvelin, MR; Jousilahti, P ... Defining the role of common variation in the genomic and biological architecture of adult human height.
Nat Genet. 2014; 46(11):1173-1186 Doi: 10.1038/ng.3097 [OPEN ACCESS]
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2013

Anderson, CD; Biffi, A; Nalls, MA; Devan, WJ; Schwab, K; Ayres, AM; Valant, V; Ross, OA; Rost, NS; Saxena, R; Viswanathan, A; Worrall, BB; Brott, TG; Goldstein, JN; Brown, D; Broderick, JP; Norrving, B; Greenberg, SM; Silliman, SL; Hansen, BM; Tirschwell, DL; Lindgren, A; Slowik, A; Schmidt, R; Selim, M; Roquer, J; Montaner, J; Singleton, AB; Kidwell, CS; Woo, D; Furie, KL; Meschia, JF; Rosand, J; on behalf of the International Stroke Genetics Consortium Common Variants Within Oxidative Phosphorylation Genes Influence Risk of Ischemic Stroke and Intracerebral Hemorrhage.
Stroke. 2013; 44(3):612-619 Doi: 10.1161/STROKEAHA.112.672089 [OPEN ACCESS]
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Devan, WJ; Falcone, GJ; Anderson, CD; Jagiella, JM; Schmidt, H; Hansen, BM; Jimenez-Conde, J; Giralt-Steinhauer, E; Cuadrado-Godia, E; Soriano, C; Ayres, AM; Schwab, K; Kassis, SB; Valant, V; Pera, J; Urbanik, A; Viswanathan, A; Rost, NS; Goldstein, JN; Freudenberger, P; Stögerer, EM; Norrving, B; Tirschwell, DL; Selim, M; Brown, DL; Silliman, SL; Worrall, BB; Meschia, JF; Kidwell, CS; Montaner, J; Fernandez-Cadenas, I; Delgado, P; Greenberg, SM; Roquer, J; Lindgren, A; Slowik, A; Schmidt, R; Woo, D; Rosand, J; Biffi, A; on behalf of the International Stroke Genetics Consortium Heritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage.
Stroke. 2013; 44(6):1578-1583 Doi: 10.1161/STROKEAHA.111.000089 [OPEN ACCESS]
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2012

Freudenberger, P; Schmidt, R; Schmidt, H Genetics of age-related white matter lesions from linkage to genome wide association studies.
J Neurol Sci. 2012; 322(1-2):82-86 Doi: 10.1016/j.jns.2012.06.016 [OPEN ACCESS]
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Marschik, PB; Pini, G; Bartl-Pokorny, KD; Duckworth, M; Gugatschka, M; Vollmann, R; Zappella, M; Einspieler, C Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.
Dev Med Child Neurol. 2012; 54(5):451-456 Doi: 10.1111/j.1469-8749.2012.04123.x [OPEN ACCESS]
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2011

Biffi, A; Anderson, CD; Jagiella, JM; Schmidt, H; Kissela, B; Hansen, BM; Jimenez-Conde, J; Pires, CR; Ayres, AM; Schwab, K; Cortellini, L; Pera, J; Urbanik, A; Romero, JM; Rost, NS; Goldstein, JN; Viswanathan, A; Pichler, A; Enzinger, C; Rabionet, R; Norrving, B; Tirschwell, DL; Selim, M; Brown, DL; Silliman, SL; Worrall, BB; Meschia, JF; Kidwell, CS; Broderick, JP; Greenberg, SM; Roquer, J; Lindgren, A; Slowik, A; Schmidt, R; Woo, D; Rosand, J; on behalf of the International Stroke Genetics Consortium APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study.
Lancet Neurol. 2011; 10(8): 702-709. Doi: 10.1016/S1474-4422(11)70148-X [OPEN ACCESS]
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Wehr, EB; Trummer, O; Giuliani, A; Gruber, HJ; Pieber, TR; Obermayer-Pietsch, BR Vitamin D-associated polymorphisms are related to insulin resistance and vitamin D deficiency in polycystic ovary syndrome.
Eur J Endocrinol. 2011; 164(5): 741-749. Doi: 10.1530/EJE-11-0134 [OPEN ACCESS]
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2010

Biffi, A; Sonni, A; Anderson, CD; Kissela, B; Jagiella, JM; Schmidt, H; Jimenez-Conde, J; Hansen, BM; Fernandez-Cadenas, I; Cortellini, L; Ayres, A; Schwab, K; Juchniewicz, K; Urbanik, A; Rost, NS; Viswanathan, A; Seifert-Held, T; Stoegerer, EM; Tomás, M; Rabionet, R; Estivill, X; Brown, DL; Silliman, SL; Selim, M; Worrall, BB; Meschia, JF; Montaner, J; Lindgren, A; Roquer, J; Schmidt, R; Greenberg, SM; Slowik, A; Broderick, JP; Woo, D; Rosand, J; on behalf of the International Stroke Genetics Consortium Variants at APOE influence risk of deep and lobar intracerebral hemorrhage.
Ann Neurol. 2010; 68(6): 934-943. Doi: 10.1002/ana.22134 [OPEN ACCESS]
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Debette, S; Bis, JC; Fornage, M; Schmidt, H; Ikram, MA; Sigurdsson, S; Heiss, G; Struchalin, M; Smith, AV; van der Lugt, A; Decarli, C; Lumley, T; Knopman, DS; Enzinger, C; Eiriksdottir, G; Koudstaal, PJ; Destefano, AL; Psaty, BM; Dufouil, C; Catellier, DJ; Fazekas, F; Aspelund, T; Aulchenko, YS; Beiser, A; Rotter, JI; Tzourio, C; Shibata, DK; Tscherner, M; Harris, TB; Rivadeneira, F; Atwood, LD; Rice, K; Gottesman, RF; van Buchem, MA; Uitterlinden, AG; Kelly-Hayes, M; Cushman, M; Zhu, Y; Boerwinkle, E; Gudnason, V; Hofman, A; Romero, JR; Lopez, O; van Duijn, CM; Au, R; Heckbert, SR; Wolf, PA; Mosley, TH; Seshadri, S; Breteler, MM; Schmidt, R; Launer, LJ; Longstreth, WT Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.
Stroke. 2010; 41(2): 210-217. Doi: 10.1161/STROKEAHA.109.569194 [OPEN ACCESS]
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2007

Mensah, AK; De Luca, V; Stachowiak, B; Noor, A; Windpassinger, C; Lam, ST; Kennedy, JL; Scherer, SW; Lo, IF; Vincent, JB Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Schizophr Res. 2007; 95(1-3):228-235 Doi: 10.1016/j.schres.2007.06.011
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Nohara, A; Kawashiri, MA; Claudel, T; Mizuno, M; Tsuchida, M; Takata, M; Katsuda, S; Miwa, K; Inazu, A; Kuipers, F; Kobayashi, J; Koizumi, J; Yamagishi, M; Mabuchi, H High frequency of a retinoid X receptor gamma gene variant in familial combined hyperlipidemia that associates with atherogenic dyslipidemia.
Arterioscler Thromb Vasc Biol. 2007; 27(4): 923-928. Doi: 10.1161/01.ATV.0000258945.76141.8a [OPEN ACCESS]
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2002

Worm, HC; Schlauder, GG; Brandstätter, G Hepatitis E and its emergence in non-endemic areas.
Wien Klin Wochenschr. 2002; 114(15-16):663-670
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2000

Worm, HC; Schlauder, GG; Wurzer, H; Mushahwar, IK Identification of a novel variant of hepatitis E virus in Austria: sequence, phylogenetic and serological analysis.
J Gen Virol. 2000; 81(Pt 12):2885-2890 Doi: 10.1099/0022-1317-81-12-2885 [OPEN ACCESS]
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1994

The Cystic Fibrosis Genetic Analysis Consortium Population variation of common cystic fibrosis mutations.
Hum Mutat. 1994; 4(3): 167-177. Doi: 10.1002/humu.1380040302
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1992

Liu, JS; Molchanova, TP; Gu, LH; Wilson, JB; Hopmeier, P; Schnedl, W; Balaun, E; Krejs, GJ; Huisman, TH Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.
Hemoglobin. 1992; 16(6):493-501 Doi: 10.3109/03630269208993117
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