Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: GENOTYPE - , . Treffer: 329
2021
Buch, S; Sharma, A; Ryan, E; Datz, C; Griffiths, WJH; Way, M; Buckley, TWM; Ryan, JD; Stewart, S; Wright, C; Dongiovanni, P; Fracanzani, A; Zwerina, J; Merle, U; Weiss, KH; Aigner, E; Krones, E; Dejaco, C; Fischer, J; Berg, T; Valenti, L; Zoller, H; McQuillin, A; Hampe, J; Stickel, F; Morgan, MY
Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.
Aliment Pharmacol Ther. 2021; 53(7):830-843
Doi: 10.1111/apt.16252
Web of Science
PubMed
FullText
FullText_MUG
2019
Arash-Kaps, L; Komlosi, K; Seegräber, M; Diederich, S; Paschke, E; Amraoui, Y; Beblo, S; Dieckmann, A; Smitka, M; Hennermann, JB
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr. 2019; 215(12):152-157
Doi: 10.1016/j.jpeds.2019.08.016
Web of Science
PubMed
FullText
FullText_MUG
Karlsson Linnér, R; Biroli, P; Kong, E; Meddens, SFW; Wedow, R; Fontana, MA; Lebreton, M; Tino, SP; Abdellaoui, A; Hammerschlag, AR; Nivard, MG; Okbay, A; Rietveld, CA; Timshel, PN; Trzaskowski, M; Vlaming, R; Zünd, CL; Bao, Y; Buzdugan, L; Caplin, AH; Chen, CY; Eibich, P; Fontanillas, P; Gonzalez, JR; Joshi, PK; Karhunen, V; Kleinman, A; Levin, RZ; Lill, CM; Meddens, GA; Muntané, G; Sanchez-Roige, S; Rooij, FJV; Taskesen, E; Wu, Y; Zhang, F; 23and Me Research Team; eQTLgen Consortium; International Cannabis Consortium; Social Science Genetic Association Consortium; Auton, A; Boardman, JD; Clark, DW; Conlin, A; Dolan, CC; Fischbacher, U; Groenen, PJF; Harris, KM; Hasler, G; Hofman, A; Ikram, MA; Jain, S; Karlsson, R; Kessler, RC; Kooyman, M; MacKillop, J; Männikkö, M; Morcillo-Suarez, C; McQueen, MB; Schmidt, KM; Smart, MC; Sutter, M; Thurik, AR; Uitterlinden, AG; White, J; Wit, H; Yang, J; Bertram, L; Boomsma, DI; Esko, T; Fehr, E; Hinds, DA; Johannesson, M; Kumari, M; Laibson, D; Magnusson, PKE; Meyer, MN; Navarro, A; Palmer, AA; Pers, TH; Posthuma, D; Schunk, D; Stein, MB; Svento, R; Tiemeier, H; Timmers, PRHJ; Turley, P; Ursano, RJ; Wagner, GG; Wilson, JF; Gratten, J; Lee, JJ; Cesarini, D; Benjamin, DJ; Koellinger, PD; Beauchamp, JP
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Nat Genet. 2019; 51(2):245-257
Doi: 10.1038/s41588-018-0309-3
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Kümpers, J; Fromme, M; Schneider, CV; Trautwein, C; Denk, H; Hamesch, K; Strnad, P
Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype).
J Hepatol. 2019; 71(6):1272-1274
Doi: 10.1016/j.jhep.2019.08.011
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Matzhold, EM; Polin, H; Körmöczi, GF; Macher, S; Schönbacher, M; Wagner, T
RHD del28Phe (DMW) encoded by a novel in-frame deletion resulting in reduced D antigen expression.
Transfusion. 2019; 59(9):3033-3034
Doi: 10.1111/trf.15459
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Middleton, PG; Mall, MA; Dřevínek, P; Lands, LC; McKone, EF; Polineni, D; Ramsey, BW; Taylor-Cousar, JL; Tullis, E; Vermeulen, F; Marigowda, G; McKee, CM; Moskowitz, SM; Nair, N; Savage, J; Simard, C; Tian, S; Waltz, D; Xuan, F; Rowe, SM; Jain, R; VX17-445-102 Study Group
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.
N Engl J Med. 2019; 381(19): 1809-1819.
Doi: 10.1056/NEJMoa1908639
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2018
Bedenić, B; Slade, M; Starčević, LŽ; Sardelić, S; Vranić-Ladavac, M; Benčić, A; Zujić Atalić, V; Bogdan, M; Bubonja-Šonje, M; Tomić-Paradžik, M; Tot, T; Lukić-Grlić, A; Drenjančević, D; Varda-Brkić, D; Bandić-Pavlović, D; Mihaljević, S; Zarfel, G; Gužvinec, M; Conzemius, R; Barišić, I; Tambić-Andraševic, A
Epidemic spread of OXA-48 beta-lactamase in Croatia.
J Med Microbiol. 2018; 67(8):1031-1041
Doi: 10.1099/jmm.0.000777
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; Plecko, B; Wohlrab, G; Whalen, S; Benoist, JF; Valence, S; Mills, PB; Bok, LA
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Eur J Paediatr Neurol. 2018; 22(4): 662-666.
Doi: 10.1016/j.ejpn.2018.03.009
Web of Science
PubMed
FullText
FullText_MUG
Eriksson, AL; Perry, JRB; Coviello, AD; Delgado, GE; Ferrucci, L; Hoffman, AR; Huhtaniemi, IT; Ikram, MA; Karlsson, MK; Kleber, ME; Laughlin, GA; Liu, Y; Lorentzon, M; Lunetta, KL; Mellström, D; Murabito, JM; Murray, A; Nethander, M; Nielson, CM; Prokopenko, I; Pye, SR; Raffel, LJ; Rivadeneira, F; Srikanth, P; Stolk, L; Teumer, A; Travison, TG; Uitterlinden, AG; Vaidya, D; Vanderschueren, D; Zmuda, JM; März, W; Orwoll, ES; Ouyang, P; Vandenput, L; Wu, FCW; de Jong, FH; Bhasin, S; Kiel, DP; Ohlsson, C
Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men.
J CLIN ENDOCR METAB. 2018; 103(3): 991-1004.
Doi: 10.1210/jc.2017-02060
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Graffmann, N; Bohndorf, M; Ncube, A; Wruck, W; Kashofer, K; Zatloukal, K; Adjaye, J
Establishment and characterization of an iPSC line from a 58 years old high grade patient with nonalcoholic fatty liver disease (70% steatosis) with homozygous wildtype PNPLA3 genotype.
Stem Cell Res. 2018; 31(4):131-134
Doi: 10.1016/j.scr.2018.07.011
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Kimbacher, C; Paar, C; Freystetter, A; Berg, J
Cell Line Controls for the Genotyping of a Spectrum of Human Single Nucleotide Polymorphisms in the Clinical Laboratory.
Clin Lab. 2018; 64(5):823-834
Doi: 10.7754/Clin.Lab.2018.171212
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Madar-Shapiro, L; Karady, I; Trahtenherts, A; Syngelaki, A; Akolekar, R; Poon, L; Cohen, R; Sharabi-Nov, A; Huppertz, B; Sammar, M; Juhasz, K; Than, NG; Papp, Z; Romero, R; Nicolaides, KH; Meiri, H
Predicting the Risk to Develop Preeclampsia in the First Trimester Combining Promoter Variant -98A/C of LGALS13 (Placental Protein 13), Black Ethnicity, Previous Preeclampsia, Obesity, and Maternal Age.
Fetal Diagn Ther. 2018; 43(4):250-265
Doi: 10.1159/000477933
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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]
Web of Science
PubMed
FullText
FullText_MUG
2017
Binder, E; Loinger, M; Mühlbacher, A; Edlinger, M; Steichen, E; Meraner, D; Loacker, L; Weigel, G; Müller, T; Fröhlich-Reiterer, E; Hofer, SE
Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense?
Arch Dis Child. 2017; 102(7):603-606
Doi: 10.1136/archdischild-2016-311610
Web of Science
PubMed
FullText
FullText_MUG
Graff, M; Scott, RA; Justice, AE; Young, KL; Feitosa, MF; Barata, L; Winkler, TW; Chu, AY; Mahajan, A; Hadley, D; Xue, L; Workalemahu, T; Heard-Costa, NL; den Hoed, M; Ahluwalia, TS; Qi, Q; Ngwa, JS; Renström, F; Quaye, L; Eicher, JD; Hayes, JE; Cornelis, M; Kutalik, Z; Lim, E; Luan, J; Huffman, JE; Zhang, W; Zhao, W; Griffin, PJ; Haller, T; Ahmad, S; Marques-Vidal, PM; Bien, S; Yengo, L; Teumer, A; Smith, AV; Kumari, M; Harder, MN; Justesen, JM; Kleber, ME; Hollensted, M; Lohman, K; Rivera, NV; Whitfield, JB; Zhao, JH; Stringham, HM; Lyytikäinen, LP; Huppertz, C; Willemsen, G; Peyrot, WJ; Wu, Y; Kristiansson, K; Demirkan, A; Fornage, M; Hassinen, M; Bielak, LF; Cadby, G; Tanaka, T; Mägi, R; van der Most, PJ; Jackson, AU; Bragg-Gresham, JL; Vitart, V; Marten, J; Navarro, P; Bellis, C; Pasko, D; Johansson, Å; Snitker, S; Cheng, YC; Eriksson, J; Lim, U; Aadahl, M; Adair, LS; Amin, N; Balkau, B; Auvinen, J; Beilby, J; Bergman, RN; Bergmann, S; Bertoni, AG; Blangero, J; Bonnefond, A; Bonnycastle, LL; Borja, JB; Brage, S; Busonero, F; Buyske, S; Campbell, H; Chines, PS; Collins, FS; Corre, T; Smith, GD; Delgado, GE; Dueker, N; Dörr, M; Ebeling, T; Eiriksdottir, G; Esko, T; Faul, JD; Fu, M; Færch, K; Gieger, C; Gläser, S; Gong, J; Gordon-Larsen, P; Grallert, H; Grammer, TB; Grarup, N; van Grootheest, G; Harald, K; Hastie, ND; Havulinna, AS; Hernandez, D; Hindorff, L; Hocking, LJ; Holmens, OL; Holzapfel, C; Hottenga, JJ; Huang, J; Huang, T; Hui, J; Huth, C; Hutri-Kähönen, N; James, AL; Jansson, JO; Jhun, MA; Juonala, M; Kinnunen, L; Koistinen, HA; Kolcic, I; Komulainen, P; Kuusisto, J; Kvaløy, K; Kähönen, M; Lakka, TA; Launer, LJ; Lehne, B; Lindgren, CM; Lorentzon, M; Luben, R; Marre, M; Milaneschi, Y; Monda, KL; Montgomery, GW; De Moor, MHM; Mulas, A; Müller-Nurasyid, M; Musk, AW; Männikkö, R; Männistö, S; Narisu, N; Nauck, M; Nettleton, JA; Nolte, IM; Oldehinkel, AJ; Olden, M; Ong, KK; Padmanabhan, S; Paternoster, L; Perez, J; Perola, M; Peters, A; Peters, U; Peyser, PA; Prokopenko, I; Puolijoki, H; Raitakari, OT; Rankinen, T; Rasmussen-Torvik, LJ; Rawal, R; Ridker, PM; Rose, LM; Rudan, I; Sarti, C; Sarzynski, MA; Savonen, K; Scott, WR; Sanna, S; Shuldiner, AR; Sidney, S; Silbernagel, G; Smith, BH; Smith, JA; Snieder, H; Stančáková, A; Sternfeld, B; Swift, AJ; Tammelin, T; Tan, ST; Thorand, B; Thuillier, D; Vandenput, L; Vestergaard, H; van Vliet-Ostaptchouk, JV; Vohl, MC; Völker, U; Waeber, G; Walker, M; Wild, S; Wong, A; Wright, AF; Zillikens, MC; Zubair, N; Haiman, CA; Lemarchand, L; Gyllensten, U; Ohlsson, C; Hofman, A; Rivadeneira, F; Uitterlinden, AG; Pérusse, L; Wilson, JF; Hayward, C; Polasek, O; Cucca, F; Hveem, K; Hartman, CA; Tönjes, A; Bandinelli, S; Palmer, LJ; Kardia, SLR; Rauramaa, R; Sørensen, TIA; Tuomilehto, J; Salomaa, V; Penninx, BWJH; de Geus, EJC; Boomsma, DI; Lehtimäki, T; Mangino, M; Laakso, M; Bouchard, C; Martin, NG; Kuh, D; Liu, Y; Linneberg, A; März, W; Strauch, K; Kivimäki, M; Harris, TB; Gudnason, V; Völzke, H; Qi, L; Järvelin, MR; Chambers, JC; Kooner, JS; Froguel, P; Kooperberg, C; Vollenweider, P; Hallmans, G; Hansen, T; Pedersen, O; Metspalu, A; Wareham, NJ; Langenberg, C; Weir, DR; Porteous, DJ; Boerwinkle, E; Chasman, DI; CHARGE Consortium; EPIC-InterAct Consortium; PAGE Consortium; Abecasis, GR; Barroso, I; McCarthy, MI; Frayling, TM; O'Connell, JR; van Duijn, CM; Boehnke, M; Heid, IM; Mohlke, KL; Strachan, DP; Fox, CS; Liu, CT; Hirschhorn, JN; Klein, RJ; Johnson, AD; Borecki, IB; Franks, PW; North, KE; C
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
PLoS Genet. 2017; 13(4): e1006528-e1006528.
Doi: 10.1371/journal.pgen.1006528
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat. 2017; 38(3):275-278
Doi: 10.1002/humu.23162
Web of Science
PubMed
FullText
FullText_MUG
Jajić, I; Benčić, A; Siroglavić, M; Zarfel, G; Ružić, B; Pezelj, I; Bedenić, B
Klebsiella Pneumoniaeoxa-48 in a Urology Patient: Case Report
Acta Clin Croat. 2017; 56(1):166-171
Doi: 10.20471/acc.2017.56.01.23
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Kashofer, K; Regauer, S
Analysis of full coding sequence of the TP53 gene in invasive vulvar cancers: Implications for therapy.
GYNECOL ONCOL. 2017; 146(2): 314-318.
Doi: 10.1016/j.ygyno.2017.05.018
Web of Science
PubMed
FullText
FullText_MUG
Kashofer, K; Winter, E; Halbwedl, I; Thueringer, A; Kreiner, M; Sauer, S; Regauer, S
HPV-negative penile squamous cell carcinoma: disruptive mutations in the TP53 gene are common.
Mod Pathol. 2017; 30(7):1013-1020
Doi: 10.1038/modpathol.2017.26
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Kröner, C; Wittmann, T; Reu, S; Teusch, V; Klemme, M; Rauch, D; Hengst, M; Kappler, M; Cobanoglu, N; Sismanlar, T; Aslan, AT; Campo, I; Proesmans, M; Schaible, T; Terheggen-Lagro, S; Regamey, N; Eber, E; Seidenberg, J; Schwerk, N; Aslanidis, C; Lohse, P; Brasch, F; Zarbock, R; Griese, M
Lung disease caused by ABCA3 mutations.
Thorax. 2017; 72(3):213-220
Doi: 10.1136/thoraxjnl-2016-208649
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Lichtenegger, S; Bina, I; Durakovic, S; Glaser, P; Tutz, S; Schild, S; Reidl, J
Serum resistance and phase variation of a nasopharyngeal non-typeable Haemophilus influenzae isolate.
Int J Med Microbiol. 2017; 307(2):139-146
Doi: 10.1016/j.ijmm.2017.01.005
Web of Science
PubMed
FullText
FullText_MUG
Lohberger, B; Stuendl, N; Leithner, A; Rinner, B; Sauer, S; Kashofer, K; Liegl-Atzwanger, B
Establishment of a novel cellular model for myxofibrosarcoma heterogeneity.
Sci Rep. 2017; 7(9):44700-44700
Doi: 10.1038/srep44700
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Nelson, CP; Goel, A; Butterworth, AS; Kanoni, S; Webb, TR; Marouli, E; Zeng, L; Ntalla, I; Lai, FY; Hopewell, JC; Giannakopoulou, O; Jiang, T; Hamby, SE; Di Angelantonio, E; Assimes, TL; Bottinger, EP; Chambers, JC; Clarke, R; Palmer, CNA; Cubbon, RM; Ellinor, P; Ermel, R; Evangelou, E; Franks, PW; Grace, C; Gu, D; Hingorani, AD; Howson, JMM; Ingelsson, E; Kastrati, A; Kessler, T; Kyriakou, T; Lehtimäki, T; Lu, X; Lu, Y; März, W; McPherson, R; Metspalu, A; Pujades-Rodriguez, M; Ruusalepp, A; Schadt, EE; Schmidt, AF; Sweeting, MJ; Zalloua, PA; AlGhalayini, K; Keavney, BD; Kooner, JS; Loos, RJF; Patel, RS; Rutter, MK; Tomaszewski, M; Tzoulaki, I; Zeggini, E; Erdmann, J; Dedoussis, G; Björkegren, JLM; EPIC-CVD Consortium; CARDIoGRAMplusC4D; UK Biobank CardioMetabolic Consortium CHD working group; Schunkert, H; Farrall, M; Danesh, J; Samani, NJ; Watkins, H; Deloukas, P
Association analyses based on false discovery rate implicate new loci for coronary artery disease.
Nat Genet. 2017; 49(9):1385-1391
Doi: 10.1038/ng.3913
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Plecko, B; Zweier, M; Begemann, A; Mathis, D; Schmitt, B; Striano, P; Baethmann, M; Vari, MS; Beccaria, F; Zara, F; Crowther, LM; Joset, P; Sticht, H; Papuc, SM; Rauch, A
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet. 2017; 54(12): 809-814.
Doi: 10.1136/jmedgenet-2017-104521
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Renner, W; Langsenlehner, U; Krenn-Pilko, S; Eder, P; Langsenlehner, T
BCL2 genotypes and prostate cancer survival.
Strahlenther Onkol. 2017; 193(6):466-471
Doi: 10.1007/s00066-017-1126-9
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Sims, R; van der Lee, SJ; Naj, AC; Bellenguez, C; Badarinarayan, N; Jakobsdottir, J; Kunkle, BW; Boland, A; Raybould, R; Bis, JC; Martin, ER; Grenier-Boley, B; Heilmann-Heimbach, S; Chouraki, V; Kuzma, AB; Sleegers, K; Vronskaya, M; Ruiz, A; Graham, RR; Olaso, R; Hoffmann, P; Grove, ML; Vardarajan, BN; Hiltunen, M; Nöthen, MM; White, CC; Hamilton-Nelson, KL; Epelbaum, J; Maier, W; Choi, SH; Beecham, GW; Dulary, C; Herms, S; Smith, AV; Funk, CC; Derbois, C; Forstner, AJ; Ahmad, S; Li, H; Bacq, D; Harold, D; Satizabal, CL; Valladares, O; Squassina, A; Thomas, R; Brody, JA; Qu, L; Sánchez-Juan, P; Morgan, T; Wolters, FJ; Zhao, Y; Garcia, FS; Denning, N; Fornage, M; Malamon, J; Naranjo, MCD; Majounie, E; Mosley, TH; Dombroski, B; Wallon, D; Lupton, MK; Dupuis, J; Whitehead, P; Fratiglioni, L; Medway, C; Jian, X; Mukherjee, S; Keller, L; Brown, K; Lin, H; Cantwell, LB; Panza, F; McGuinness, B; Moreno-Grau, S; Burgess, JD; Solfrizzi, V; Proitsi, P; Adams, HH; Allen, M; Seripa, D; Pastor, P; Cupples, LA; Price, ND; Hannequin, D; Frank-García, A; Levy, D; Chakrabarty, P; Caffarra, P; Giegling, I; Beiser, AS; Giedraitis, V; Hampel, H; Garcia, ME; Wang, X; Lannfelt, L; Mecocci, P; Eiriksdottir, G; Crane, PK; Pasquier, F; Boccardi, V; Henández, I; Barber, RC; Scherer, M; Tarraga, L; Adams, PM; Leber, M; Chen, Y; Albert, MS; Riedel-Heller, S; Emilsson, V; Beekly, D; Braae, A; Schmidt, R; Blacker, D; Masullo, C; Schmidt, H; Doody, RS; Spalletta, G; Longstreth, WT; Fairchild, TJ; Bossù, P; Lopez, OL; Frosch, MP; Sacchinelli, E; Ghetti, B; Yang, Q; Huebinger, RM; Jessen, F; Li, S; Kamboh, MI; Morris, J; Sotolongo-Grau, O; Katz, MJ; Corcoran, C; Dunstan, M; Braddel, A; Thomas, C; Meggy, A; Marshall, R; Gerrish, A; Chapman, J; Aguilar, M; Taylor, S; Hill, M; Fairén, MD; Hodges, A; Vellas, B; Soininen, H; Kloszewska, I; Daniilidou, M; Uphill, J; Patel, Y; Hughes, JT; Lord, J; Turton, J; Hartmann, AM; Cecchetti, R; Fenoglio, C; Serpente, M; Arcaro, M; Caltagirone, C; Orfei, MD; Ciaramella, A; Pichler, S; Mayhaus, M; Gu, W; Lleó, A; Fortea, J; Blesa, R; Barber, IS; Brookes, K; Cupidi, C; Maletta, RG; Carrell, D; Sorbi, S; Moebus, S; Urbano, M; Pilotto, A; Kornhuber, J; Bosco, P; Todd, S; Craig, D; Johnston, J; Gill, M; Lawlor, B; Lynch, A; Fox, NC; Hardy, J; ARUK Consortium; Albin, RL; Apostolova, LG; Arnold, SE; Asthana, S; Atwood, CS; Baldwin, CT; Barnes, LL; Barral, S; Beach, TG; Becker, JT; Bigio, EH; Bird, TD; Boeve, BF; Bowen, JD; Boxer, A; Burke, JR; Burns, JM; Buxbaum, JD; Cairns, NJ; Cao, C; Carlson, CS; Carlsson, CM; Carney, RM; Carrasquillo, MM; Carroll, SL; Diaz, CC; Chui, HC; Clark, DG; Cribbs, DH; Crocco, EA; DeCarli, C; Dick, M; Duara, R; Evans, DA; Faber, KM; Fallon, KB; Fardo, DW; Farlow, MR; Ferris, S; Foroud, TM; Galasko, DR; Gearing, M; Geschwind, DH; Gilbert, JR; Graff-Radford, NR; Green, RC; Growdon, JH; Hamilton, RL; Harrell, LE; Honig, LS; Huentelman, MJ; Hulette, CM; Hyman, BT; Jarvik, GP; Abner, E; Jin, LW; Jun, G; Karydas, A; Kaye, JA; Kim, R; Kowall, NW; Kramer, JH; LaFerla, FM; Lah, JJ; Leverenz, JB; Levey, AI; Li, G; Lieberman, AP; Lunetta, KL; Lyketsos, CG; Marson, DC; Martiniuk, F; Mash, DC; Masliah, E; McCormick, WC; McCurry, SM; McDavid, AN; McKee, AC; Mesulam, M; Miller, BL; Miller, CA; Miller, JW; Morris, JC; Murrell, JR; Myers, AJ; O'Bryant, S; Olichney, JM; Pankratz, VS; Parisi, JE; Paulson, HL; Perry, W; Peskind, E; Pierce, A; Poon, WW; Potter, H; Quinn, JF; Raj, A; Raskind, M; Reisberg, B; Reitz, C; Ringman, JM; Robe ...
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet. 2017; 49(9):1373-1384
Doi: 10.1038/ng.3916
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Skrabl-Baumgartner, A; Christine Hauer, A; Erwa, W; Jahnel, J
HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis.
Arch Dis Child. 2017; 102(7):607-611
Doi: 10.1136/archdischild-2016-311544
Web of Science
PubMed
FullText
FullText_MUG
Stauber, RE; Fauler, G; Rainer, F; Leber, B; Posch, A; Streit, A; Spindelboeck, W; Stadlbauer, V; Kessler, HH; Mangge, H
Anti-HCV treatment with ombitasvir/paritaprevir/ritonavir ± dasabuvir is associated with increased bile acid levels and pruritus.
Wien Klin Wochenschr. 2017; 129(21-22):848-851
Doi: 10.1007/s00508-017-1268-x
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Stelzl, E; Appel, HM; Mehta, R; Marins, EG; Berg, J; Paar, C; Zurl, H; Santner, BI; Kessler, HH
Evaluation of the new cobas® HCV genotyping test based on real-time PCRs of three different HCV genome regions.
Clin Chem Lab Med. 2017; 55(4):517-521
Doi: 10.1515/cclm-2016-0620
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Stelzl, E; Haas, B; Bauer, B; Zhang, S; Fiss, EH; Hillman, G; Hamilton, AT; Mehta, R; Heil, ML; Marins, EG; Santner, BI; Kessler, HH
First identification of a recombinant form of hepatitis C virus in Austrian patients by full-genome next generation sequencing.
PLoS One. 2017; 12(7):e0181273-e0181273
Doi: 10.1371/journal.pone.0181273
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Stotz, M; Herzog, SA; Pichler, M; Smolle, M; Riedl, J; Rossmann, C; Bezan, A; Stöger, H; Renner, W; Berghold, A; Gerger, A
Cancer Stem Cell Gene Variants in CD44 Predict Outcome in Stage II and Stage III Colon Cancer Patients.
Anticancer Res. 2017; 37(4):2011-2018
Doi: 10.21873/anticanres.11545
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Tanna, P; Strauss, RW; Fujinami, K; Michaelides, M
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
Br J Ophthalmol. 2017; 101(1): 25-30.
Doi: 10.1136/bjophthalmol-2016-308823
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Wolf, D; Bukosza, N; Engel, D; Poggi, M; Jehle, F; Anto Michel, N; Chen, YC; Colberg, C; Hoppe, N; Dufner, B; Boon, L; Blankenbach, H; Hilgendorf, I; von Zur Muhlen, C; Reinöhl, J; Sommer, B; Marchini, T; Febbraio, MA; Weber, C; Bode, C; Peter, K; Lutgens, E; Zirlik, A
Inflammation, but not recruitment, of adipose tissue macrophages requires signalling through Mac-1 (CD11b/CD18) in diet-induced obesity (DIO).
Thromb Haemost. 2017; 117(2):325-338
Doi: 10.1160/TH16-07-0553
Web of Science
PubMed
FullText
FullText_MUG
2016
Anderson, CD; Falcone, GJ; Phuah, CL; Radmanesh, F; Brouwers, HB; Battey, TW; Biffi, A; Peloso, GM; Liu, DJ; Ayres, AM; Goldstein, JN; Viswanathan, A; Greenberg, SM; Selim, M; Meschia, JF; Brown, DL; Worrall, BB; Silliman, SL; Tirschwell, DL; Flaherty, ML; Kraft, P; Jagiella, JM; Schmidt, H; Hansen, BM; Jimenez-Conde, J; Giralt-Steinhauer, E; Elosua, R; Cuadrado-Godia, E; Soriano, C; van Nieuwenhuizen, KM; Klijn, CJ; Rannikmae, K; Samarasekera, N; Al-Shahi Salman, R; Sudlow, CL; Deary, IJ; Morotti, A; Pezzini, A; Pera, J; Urbanik, A; Pichler, A; Enzinger, C; Norrving, B; Montaner, J; Fernandez-Cadenas, I; Delgado, P; Roquer, J; Lindgren, A; Slowik, A; Schmidt, R; Kidwell, CS; Kittner, SJ; Waddy, SP; Langefeld, CD; Abecasis, G; Willer, CJ; Kathiresan, S; Woo, D; Rosand, J; Global Lipids Genetics Consortium and International Stroke Genetics Consortium
Genetic variants in CETP increase risk of intracerebral hemorrhage.
Ann Neurol. 2016; 80(5):730-740
Doi: 10.1002/ana.24780
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Arora, N; Schuenemann, VJ; Jäger, G; Peltzer, A; Seitz, A; Herbig, A; Strouhal, M; Grillová, L; Sánchez-Busó, L; Kühnert, D; Bos, KI; Davis, LR; Mikalová, L; Bruisten, S; Komericki, P; French, P; Grant, PR; Pando, MA; Vaulet, LG; Fermepin, MR; Martinez, A; Centurion Lara, A; Giacani, L; Norris, SJ; Šmajs, D; Bosshard, PP; González-Candelas, F; Nieselt, K; Krause, J; Bagheri, HC
Origin of modern syphilis and emergence of a pandemic Treponema pallidum cluster.
Nat Microbiol. 2016; 2(368): 16245-16245.
Doi: 10.1038/nmicrobiol.2016.245
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Web of Science
PubMed
FullText
FullText_MUG
Enko, D; Kriegshäuser, G; Stolba, R; Mangge, H; Brandstetter, D; Mayr, N; Forstner, T; Halwachs-Baumann, G
Assessment of vitamin D status and serum CrossLaps levels in adults with primary lactose malabsorption.
Eur J Clin Nutr. 2016; 70(9):1000-1003
Doi: 10.1038/ejcn.2016.66
Web of Science
PubMed
FullText
FullText_MUG
Enko, D; Pollheimer, V; Németh, S; Pühringer, H; Stolba, R; Halwachs-Baumann, G; Kriegshäuser, G
Lactase Non-Persistence Genotyping: Comparison of Two Real-Time PCR Assays and Assessment of Concomitant Fructose/Sorbitol Malabsorption Rates.
Clin Lab. 2016; 62(4):727-730
Doi: 10.7754/Clin.Lab.2015.150923
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Fontana, RJ; Brown, RS; Moreno-Zamora, A; Prieto, M; Joshi, S; Londoño, MC; Herzer, K; Chacko, KR; Stauber, RE; Knop, V; Jafri, SM; Castells, L; Ferenci, P; Torti, C; Durand, CM; Loiacono, L; Lionetti, R; Bahirwani, R; Weiland, O; Mubarak, A; ElSharkawy, AM; Stadler, B; Montalbano, M; Berg, C; Pellicelli, AM; Stenmark, S; Vekeman, F; Ionescu-Ittu, R; Emond, B; Reddy, KR
Daclatasvir combined with sofosbuvir or simeprevir in liver transplant recipients with severe recurrent hepatitis C infection.
Liver Transpl. 2016; 22(4):446-458
Doi: 10.1002/lt.24416
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Grün, NG; Zeyda, K; Moreno-Viedma, V; Strohmeier, K; Staffler, G; Zeyda, M; Stulnig, TM
A humanized osteopontin mouse model and its application in immunometabolic obesity studies.
Transl Res. 2016; 178(10):63-73
Doi: 10.1016/j.trsl.2016.07.009
Web of Science
PubMed
FullText
FullText_MUG
Holtfreter, S; Grumann, D; Balau, V; Barwich, A; Kolata, J; Goehler, A; Weiss, S; Holtfreter, B; Bauerfeind, SS; Döring, P; Friebe, E; Haasler, N; Henselin, K; Kühn, K; Nowotny, S; Radke, D; Schulz, K; Schulz, SR; Trübe, P; Vu, CH; Walther, B; Westphal, S; Cuny, C; Witte, W; Völzke, H; Grabe, HJ; Kocher, T; Steinmetz, I; Bröker, BM
Molecular Epidemiology of Staphylococcus aureus in the General Population in Northeast Germany: Results of the Study of Health in Pomerania (SHIP-TREND-0).
J Clin Microbiol. 2016; 54(11): 2774-2785.
Doi: 10.1128/JCM.00312-16
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Kroneis, T; Ye, J; Gillespie, K
Laser Capture and Single Cell Genotyping from Frozen Tissue Sections.
Methods Mol Biol. 2016; 1433(1):159-167
Doi: 10.1007/7651_2015_290
PubMed
FullText
FullText_MUG
Lin, H; Mueller-Nurasyid, M; Smith, AV; Arking, DE; Barnard, J; Bartz, TM; Lunetta, KL; Lohman, K; Kleber, ME; Lubitz, SA; Geelhoed, B; Trompet, S; Niemeijer, MN; Kacprowski, T; Chasman, DI; Klarin, D; Sinner, MF; Waldenberger, M; Meitinger, T; Harris, TB; Launer, LJ; Soliman, EZ; Chen, LY; Smith, JD; Van Wagoner, DR; Rotter, JI; Psaty, BM; Xie, Z; Hendricks, AE; Ding, J; Delgado, GE; Verweij, N; van der Harst, P; Macfarlane, PW; Ford, I; Hofman, A; Uitterlinden, A; Heeringa, J; Franco, OH; Kors, JA; Weiss, S; Völzke, H; Rose, LM; Natarajan, P; Kathiresan, S; Kääb, S; Gudnason, V; Alonso, A; Chung, MK; Heckbert, SR; Benjamin, EJ; Liu, Y; März, W; Rienstra, M; Jukema, JW; Stricker, BH; Dörr, M; Albert, CM; Ellinor, PT
Gene-gene Interaction Analyses for Atrial Fibrillation.
Sci Rep. 2016; 6(24):35371-35371
Doi: 10.1038/srep35371
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Löffler, T; Schweinzer, C; Flunkert, S; Sántha, M; Windisch, M; Steyrer, E; Hutter-Paier, B
Brain cortical cholesterol metabolism is highly affected by human APP overexpression in mice.
Mol Cell Neurosci. 2016; 74(2):34-41
Doi: 10.1016/j.mcn.2016.03.004
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Pattaro, C; Teumer, A; Gorski, M; Chu, AY; Li, M; Mijatovic, V; Garnaas, M; Tin, A; Sorice, R; Li, Y; Taliun, D; Olden, M; Foster, M; Yang, Q; Chen, MH; Pers, TH; Johnson, AD; Ko, YA; Fuchsberger, C; Tayo, B; Nalls, M; Feitosa, MF; Isaacs, A; Dehghan, A; d'Adamo, P; Adeyemo, A; Dieffenbach, AK; Zonderman, AB; Nolte, IM; van der Most, PJ; Wright, AF; Shuldiner, AR; Morrison, AC; Hofman, A; Smith, AV; Dreisbach, AW; Franke, A; Uitterlinden, AG; Metspalu, A; Tonjes, A; Lupo, A; Robino, A; Johansson, Å; Demirkan, A; Kollerits, B; Freedman, BI; Ponte, B; Oostra, BA; Paulweber, B; Krämer, BK; Mitchell, BD; Buckley, BM; Peralta, CA; Hayward, C; Helmer, C; Rotimi, CN; Shaffer, CM; Müller, C; Sala, C; van Duijn, CM; Saint-Pierre, A; Ackermann, D; Shriner, D; Ruggiero, D; Toniolo, D; Lu, Y; Cusi, D; Czamara, D; Ellinghaus, D; Siscovick, DS; Ruderfer, D; Gieger, C; Grallert, H; Rochtchina, E; Atkinson, EJ; Holliday, EG; Boerwinkle, E; Salvi, E; Bottinger, EP; Murgia, F; Rivadeneira, F; Ernst, F; Kronenberg, F; Hu, FB; Navis, GJ; Curhan, GC; Ehret, GB; Homuth, G; Coassin, S; Thun, GA; Pistis, G; Gambaro, G; Malerba, G; Montgomery, GW; Eiriksdottir, G; Jacobs, G; Li, G; Wichmann, HE; Campbell, H; Schmidt, H; Wallaschofski, H; Völzke, H; Brenner, H; Kroemer, HK; Kramer, H; Lin, H; Leach, IM; Ford, I; Guessous, I; Rudan, I; Prokopenko, I; Borecki, I; Heid, IM; Kolcic, I; Persico, I; Jukema, JW; Wilson, JF; Felix, JF; Divers, J; Lambert, JC; Stafford, JM; Gaspoz, JM; Smith, JA; Faul, JD; Wang, JJ; Ding, J; Hirschhorn, JN; Attia, J; Whitfield, JB; Chalmers, J; Viikari, J; Coresh, J; Denny, JC; Karjalainen, J; Fernandes, JK; Endlich, K; Butterbach, K; Keene, KL; Lohman, K; Portas, L; Launer, LJ; Lyytikäinen, LP; Yengo, L; Franke, L; Ferrucci, L; Rose, LM; Kedenko, L; Rao, M; Struchalin, M; Kleber, ME; Cavalieri, M; Haun, M; Cornelis, MC; Ciullo, M; Pirastu, M; de Andrade, M; McEvoy, MA; Woodward, M; Adam, M; Cocca, M; Nauck, M; Imboden, M; Waldenberger, M; Pruijm, M; Metzger, M; Stumvoll, M; Evans, MK; Sale, MM; Kähönen, M; Boban, M; Bochud, M; Rheinberger, M; Verweij, N; Bouatia-Naji, N; Martin, NG; Hastie, N; Probst-Hensch, N; Soranzo, N; Devuyst, O; Raitakari, O; Gottesman, O; Franco, OH; Polasek, O; Gasparini, P; Munroe, PB; Ridker, PM; Mitchell, P; Muntner, P; Meisinger, C; Smit, JH; ICBP Consortium; AGEN Consortium; CARDIOGRAM; CHARGe-Heart Failure Group; ECHOGen Consortium; Kovacs, P; Wild, PS; Froguel, P; Rettig, R; Mägi, R; Biffar, R; Schmidt, R; Middelberg, RP; Carroll, RJ; Penninx, BW; Scott, RJ; Katz, R; Sedaghat, S; Wild, SH; Kardia, SL; Ulivi, S; Hwang, SJ; Enroth, S; Kloiber, S; Trompet, S; Stengel, B; Hancock, SJ; Turner, ST; Rosas, SE; Stracke, S; Harris, TB; Zeller, T; Zemunik, T; Lehtimäki, T; Illig, T; Aspelund, T; Nikopensius, T; Esko, T; Tanaka, T; Gyllensten, U; Völker, U; Emilsson, V; Vitart, V; Aalto, V; Gudnason, V; Chouraki, V; Chen, WM; Igl, W; März, W; Koenig, W; Lieb, W; Loos, RJ; Liu, Y; Snieder, H; Pramstaller, PP; Parsa, A; O'Connell, JR; Susztak, K; Hamet, P; Tremblay, J; de Boer, IH; Böger, CA; Goessling, W; Chasman, DI; Köttgen, A; Kao, WH; Fox, CS
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Nat Commun. 2016; 7(1):10023-10023
Doi: 10.1038/ncomms10023
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Pearce, KF; Balavarca, Y; Norden, J; Jackson, G; Holler, E; Dressel, R; Greinix, H; Toubert, A; Gluckman, E; Hromadnikova, I; Sedlacek, P; Wolff, D; Holtick, U; Bickeböller, H; Dickinson, AM
Impact of genomic risk factors on survival after haematopoietic stem cell transplantation for patients with acute leukaemia.
Int J Immunogenet. 2016; 43(6):404-412
Doi: 10.1111/iji.12295
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Renner, W; Jahrbacher, R; Marx-Neuhold, E; Tischler, S; Zulus, B
A novel exonuclease (TaqMan) assay for rapid haptoglobin genotyping.
Clin Chem Lab Med. 2016; 54(5):781-783
Doi: 10.1515/cclm-2015-0586
Web of Science
PubMed
FullText
FullText_MUG
Sabrautzki, S; Sandholzer, MA; Lorenz-Depiereux, B; Brommage, R; Przemeck, G; Vargas Panesso, IL; Vernaleken, A; Garrett, L; Baron, K; Yildirim, AO; Rozman, J; Rathkolb, B; Gau, C; Hans, W; Hoelter, SM; Marschall, S; Stoeger, C; Becker, L; Fuchs, H; Gailus-Durner, V; Klingenspor, M; Klopstock, T; Lengger, C; Stefanie, L; Wolf, E; Strom, TM; Wurst, W; de Angelis, MH
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
Mamm Genome. 2016; 27(11-12):587-598
Doi: 10.1007/s00335-016-9664-5
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Sadovnick, AD; Traboulsee, AL; Bernales, CQ; Ross, JP; Forwell, AL; Yee, IM; Guillot-Noel, L; Fontaine, B; Cournu-Rebeix, I; Alcina, A; Fedetz, M; Izquierdo, G; Matesanz, F; Hilven, K; Dubois, B; Goris, A; Astobiza, I; Alloza, I; Antigüedad, A; Vandenbroeck, K; Akkad, DA; Aktas, O; Blaschke, P; Buttmann, M; Chan, A; Epplen, JT; Gerdes, LA; Kroner, A; Kubisch, C; Kümpfel, T; Lohse, P; Rieckmann, P; Zettl, UK; Zipp, F; Bertram, L; Lill, CM; Fernandez, O; Urbaneja, P; Leyva, L; Alvarez-Cermeño, JC; Arroyo, R; Garagorri, AM; García-Martínez, A; Villar, LM; Urcelay, E; Malhotra, S; Montalban, X; Comabella, M; Berger, T; Fazekas, F; Reindl, M; Schmied, MC; Zimprich, A; Vilariño-Güell, C
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
G3 (Bethesda). 2016; 6(7):2073-2079
Doi: 10.1534/g3.116.030841
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Weitere 50 Treffer anzeigen