Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: GENETIC ASSOCIATION STUDIES - , . Treffer: 49
2019
Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6.
Doi: 10.1186/s10020-019-0073-6
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2018
Dressel, R; Greinix, HT; Holler, E; Dickinson, AM
Editorial: Cellular Therapies: Past, Present and Future.
Front Immunol. 2018; 9(5):1966-1966
Doi: 10.3389/fimmu.2018.01966
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Kashofer, K; Gornicec, M; Lind, K; Caraffini, V; Schauer, S; Beham-Schmid, C; Wölfler, A; Hoefler, G; Sill, H; Zebisch, A
Detection of prognostically relevant mutations and translocations in myeloid sarcoma by next generation sequencing.
Leuk Lymphoma. 2018; 59(2):501-504
Doi: 10.1080/10428194.2017.1339879
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2017
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
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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
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Zewinger, S; Kleber, ME; Tragante, V; McCubrey, RO; Schmidt, AF; Direk, K; Laufs, U; Werner, C; Koenig, W; Rothenbacher, D; Mons, U; Breitling, LP; Brenner, H; Jennings, RT; Petrakis, I; Triem, S; Klug, M; Filips, A; Blankenberg, S; Waldeyer, C; Sinning, C; Schnabel, RB; Lackner, KJ; Vlachopoulou, E; Nygård, O; Svingen, GFT; Pedersen, ER; Tell, GS; Sinisalo, J; Nieminen, MS; Laaksonen, R; Trompet, S; Smit, RAJ; Sattar, N; Jukema, JW; Groesdonk, HV; Delgado, G; Stojakovic, T; Pilbrow, AP; Cameron, VA; Richards, AM; Doughty, RN; Gong, Y; Cooper-DeHoff, R; Johnson, J; Scholz, M; Beutner, F; Thiery, J; Smith, JG; Vilmundarson, RO; McPherson, R; Stewart, AFR; Cresci, S; Lenzini, PA; Spertus, JA; Olivieri, O; Girelli, D; Martinelli, NI; Leiherer, A; Saely, CH; Drexel, H; Mündlein, A; Braund, PS; Nelson, CP; Samani, NJ; Kofink, D; Hoefer, IE; Pasterkamp, G; Quyyumi, AA; Ko, YA; Hartiala, JA; Allayee, H; Tang, WHW; Hazen, SL; Eriksson, N; Held, C; Hagström, E; Wallentin, L; Åkerblom, A; Siegbahn, A; Karp, I; Labos, C; Pilote, L; Engert, JC; Brophy, JM; Thanassoulis, G; Bogaty, P; Szczeklik, W; Kaczor, M; Sanak, M; Virani, SS; Ballantyne, CM; Lee, VV; Boerwinkle, E; Holmes, MV; Horne, BD; Hingorani, A; Asselbergs, FW; Patel, RS; GENIUS-CHD consortium; Krämer, BK; Scharnagl, H; Fliser, D; März, W; Speer, T
Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association study.
Lancet Diabetes Endocrinol. 2017; 5(7):534-543
Doi: 10.1016/S2213-8587(17)30096-7
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2016
Grenkowitz, T; Kassner, U; Wühle-Demuth, M; Salewsky, B; Rosada, A; Zemojtel, T; Hopfenmüller, W; Isermann, B; Borucki, K; Heigl, F; Laufs, U; Wagner, S; Kleber, ME; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I
Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Atherosclerosis. 2016; 253(19-20):88-93
Doi: 10.1016/j.atherosclerosis.2016.08.037
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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
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Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet. 2016; 80(6):342-368
Doi: 10.1111/ahg.12176
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Khan, MA; Mohan, S; Zubair, M; Windpassinger, C
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10.
Doi: 10.1186/s12881-016-0271-9
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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
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Wenzl, K; Hofer, S; Troppan, K; Lassnig, M; Steinbauer, E; Wiltgen, M; Zulus, B; Renner, W; Beham-Schmid, C; Neumeister, P; Deutsch, A
Higher incidence of the SNP Met 788 Ile in the coding region of A20 in diffuse large B cell lymphomas.
Tumour Biol. 2016; 37(4):4785-4789
Doi: 10.1007/s13277-015-4322-1
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2015
Addis, L; Ahn, JW; Dobson, R; Dixit, A; Ogilvie, CM; Pinto, D; Vaags, AK; Coon, H; Chaste, P; Wilson, S; Parr, JR; Andrieux, J; Lenne, B; Tumer, Z; Leuzzi, V; Aubell, K; Koillinen, H; Curran, S; Marshall, CR; Scherer, SW; Strug, LJ; Collier, DA; Pal, DK
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Hum Mutat. 2015; 36(9):842-850
Doi: 10.1002/humu.22816
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Benke, K; Ágg, B; Mátyás, G; Szokolai, V; Harsányi, G; Szilveszter, B; Odler, B; Pólos, M; Maurovich-Horvat, P; Radovits, T; Merkely, B; Nagy, ZB; Szabolcs, Z
Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome.
Thromb Haemost. 2015; 114(4): 748-756.
Doi: 10.1160/TH15-02-0096
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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638
Doi: 10.1038/ejhg.2014.109
(- Case Report)
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Lindner, E; Glatz, W; Schwab, C; El-Shabrawi, Y; Mossböck, G
Analysis of functional polymorphisms in apoptosis-related genes in primary open angle glaucoma.
Mol Vis. 2015; 21(7):1340-1344
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Paolini, A; Baldassarre, A; Del Gaudio, I; Masotti, A
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Int J Mol Sci. 2015; 16(8):19631-19644
Doi: 10.3390/ijms160819631
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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
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Sadowski, CE; Lovric, S; Ashraf, S; Pabst, WL; Gee, HY; Kohl, S; Engelmann, S; Vega-Warner, V; Fang, H; Halbritter, J; Somers, MJ; Tan, W; Shril, S; Fessi, I; Lifton, RP; Bockenhauer, D; El-Desoky, S; Kari, JA; Zenker, M; Kemper, MJ; Mueller, D; Fathy, HM; Soliman, NA; SRNS Study Group; Hildebrandt, F
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015; 26(6): 1279-1289.
Doi: 10.1681/ASN.2014050489
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Sebio, A; Gerger, A; Matsusaka, S; Yang, D; Zhang, W; Stremitzer, S; Stintzing, S; Sunakawa, Y; Yamauchi, S; Ning, Y; Fujimoto, Y; Ueno, M; Lenz, HJ
Genetic variants within obesity-related genes are associated with tumor recurrence in patients with stages II/III colon cancer.
Pharmacogenet Genomics. 2015; 25(1):30-37
Doi: 10.1097/FPC.0000000000000101
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Thomas, J; Ohtsuka, M; Pichler, M; Ling, H
MicroRNAs: Clinical Relevance in Colorectal Cancer.
Int J Mol Sci. 2015; 16(12):28063-28076
Doi: 10.3390/ijms161226080
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Wruck, W; Kashofer, K; Rehman, S; Daskalaki, A; Berg, D; Gralka, E; Jozefczuk, J; Drews, K; Pandey, V; Regenbrecht, C; Wierling, C; Turano, P; Korf, U; Zatloukal, K; Lehrach, H; Westerhoff, HV; Adjaye, J
Multi-omic profiles of human non-alcoholic fatty liver disease tissue highlight heterogenic phenotypes.
Sci Data. 2015; 2(S 01):150068-150068
Doi: 10.1038/sdata.2015.68
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2014
Friedrich, K; Wannhoff, A; Kattner, S; Brune, M; Hov, JR; Weiss, KH; Antoni, C; Dollinger, M; Neumann-Haefelin, C; Seufferlein, T; Schemmer, P; Schirmacher, P; Stremmel, W; Gotthardt, DN
PNPLA3 in end-stage liver disease: alcohol consumption, hepatocellular carcinoma development, and transplantation-free survival.
J Gastroenterol Hepatol. 2014; 29(7):1477-1484
Doi: 10.1111/jgh.12540
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Haack, TB; Gorza, M; Danhauser, K; Mayr, JA; Haberberger, B; Wieland, T; Kremer, L; Strecker, V; Graf, E; Memari, Y; Ahting, U; Kopajtich, R; Wortmann, SB; Rodenburg, RJ; Kotzaeridou, U; Hoffmann, GF; Sperl, W; Wittig, I; Wilichowski, E; Schottmann, G; Schuelke, M; Plecko, B; Stephani, U; Strom, TM; Meitinger, T; Prokisch, H; Freisinger, P
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab. 2014; 111(3): 342-352.
Doi: 10.1016/j.ymgme.2013.12.010
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Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530
Doi: 10.1007/s12041-014-0394-8
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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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Pereira, TV; Kimura, L; Suwazono, Y; Nakagawa, H; Daimon, M; Oizumi, T; Kayama, T; Kato, T; Li, L; Chen, S; Gu, D; Renner, W; März, W; Yamada, Y; Bagos, PG; Mingroni-Netto, RC
Multivariate meta-analysis of the association of G-protein beta 3 gene (GNB3) haplotypes with cardiovascular phenotypes.
Mol Biol Rep. 2014; 41(5):3113-3125
Doi: 10.1007/s11033-014-3171-0
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Reinthaler, E; Machetanz, G; Hotzy, C; Reindl, M; Fazekas, F; Kristoferitsch, W; Berger, T; Schmied, C; Zimprich, A
No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.
MULT SCLER J. 2014; 20(3): 391-392.
Doi: 10.1177/1352458513498130
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Rensing-Ehl, A; Völkl, S; Speckmann, C; Lorenz, MR; Ritter, J; Janda, A; Abinun, M; Pircher, H; Bengsch, B; Thimme, R; Fuchs, I; Ammann, S; Allgäuer, A; Kentouche, K; Cant, A; Hambleton, S; Bettoni da Cunha, C; Huetker, S; Kühnle, I; Pekrun, A; Seidel, MG; Hummel, M; Mackensen, A; Schwarz, K; Ehl, S
Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.
Blood. 2014; 124(6):851-860
Doi: 10.1182/blood-2014-03-564286
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Rominger, C; Weiss, EM; Nagl, S; Niederstätter, H; Parson, W; Papousek, I
Carriers of the COMT Met/Met allele have higher degrees of hypnotizability, provided that they have good attentional control: a case of gene-trait interaction.
Int J Clin Exp Hypn. 2014; 62(4):455-482
Doi: 10.1080/00207144.2014.931177
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Schiekofer, S; Bobak, I; Kleber, ME; Maerz, W; Rudofsky, G; Dugi, KA; Schneider, JG
Association between a gene variant near ataxia telangiectasia mutated and coronary artery disease in men.
Diab Vasc Dis Res. 2014; 11(1):60-63
Doi: 10.1177/1479164113514232
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Schweighofer, N; Lerchbaum, E; Trummer, O; Schwetz, V; Pieber, T; Obermayer-Pietsch, B
Metformin resistance alleles in polycystic ovary syndrome: pattern and association with glucose metabolism.
Pharmacogenomics. 2014; 15(3):305-317
Doi: 10.2217/pgs.13.223
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Tarasov, K; Ekroos, K; Suoniemi, M; Kauhanen, D; Sylvänne, T; Hurme, R; Gouni-Berthold, I; Berthold, HK; Kleber, ME; Laaksonen, R; März, W
Molecular lipids identify cardiovascular risk and are efficiently lowered by simvastatin and PCSK9 deficiency.
J CLIN ENDOCRINOL METAB. 2014; 99(1): E45-E52.
Doi: 10.1210/jc.2013-2559
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2013
Ho, JE; Chen, WY; Chen, MH; Larson, MG; McCabe, EL; Cheng, S; Ghorbani, A; Coglianese, E; Emilsson, V; Johnson, AD; Walter, S; Franceschini, N; O'Donnell, CJ; CARDIoGRAM Consortium; CHARGE Inflammation Working Group; Dehghan, A; Lu, C; Levy, D; Newton-Cheh, C; CHARGE Heart Failure Working Group; Lin, H; Felix, JF; Schreiter, ER; Vasan, RS; Januzzi, JL; Lee, RT; Wang, TJ; Assimes, TL; Deloukas, P; Erdmann, J; Holm, H; Kathiresan, S; König, IR; McPherson, R; Reilly, MP; Roberts, R; Samani, NJ; Schunkert, H; Stewart, AF
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
J Clin Invest. 2013; 123(10): 4208-4218.
Doi: 10.1172/JCI67119
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Lajin, B; Alhaj Sakur, A; Alachkar, A
Association between polymorphisms in apoptotic genes and susceptibility for developing breast cancer in Syrian women.
Breast Cancer Res Treat. 2013; 138(2):611-619
Doi: 10.1007/s10549-013-2467-4
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Reiner, AP; Hartiala, J; Zeller, T; Bis, JC; Dupuis, J; Fornage, M; Baumert, J; Kleber, ME; Wild, PS; Baldus, S; Bielinski, SJ; Fontes, JD; Illig, T; Keating, BJ; Lange, LA; Ojeda, F; Müller-Nurasyid, M; Munzel, TF; Psaty, BM; Rice, K; Rotter, JI; Schnabel, RB; Tang, WH; Thorand, B; Erdmann, J; CARDIoGRAM Consortium; Jacobs, DR; Wilson, JG; Koenig, W; Tracy, RP; Blankenberg, S; März, W; Gross, MD; Benjamin, EJ; Hazen, SL; Allayee, H
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Hum Mol Genet. 2013; 22(16):3381-3393
Doi: 10.1093/hmg/ddt189
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Steinwender, G; Lindner, E; Weger, M; Plainer, S; Renner, W; Ardjomand, N; El-Shabrawi, Y
Association between polymorphism of the vitamin D metabolism gene CYP27B1 and HLA-B27-associated uveitis. Is a state of relative immunodeficiency pathogenic in HLA B27-positive uveitis?
PLoS One. 2013; 8(4):e62244-e62244
Doi: 10.1371/journal.pone.0062244
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2012
Barral, S; Fernández-Cadenas, I; Bis, JC; Montaner, J; Ikram, AM; Launer, LJ; Fornage, M; Schmidt, H; Brickman, AM; Seshadri, S; Mayeux, R
No association of ALOX5AP polymorphisms with risk of MRI-defined brain infarcts.
Neurobiol Aging. 2012; 33(3):629.e1-629.e3
Doi: 10.1016/j.neurobiolaging.2011.10.010
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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
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Labonte, MJ; Wilson, PM; Yang, D; Zhang, W; Ladner, RD; Ning, Y; Gerger, A; Bohanes, PO; Benhaim, L; El-Khoueiry, R; El-Khoueiry, A; Lenz, HJ
The Cyclin D1 (CCND1) A870G polymorphism predicts clinical outcome to lapatinib and capecitabine in HER2-positive metastatic breast cancer.
Ann Oncol. 2012; 23(6):1455-1464
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Lajin, B; Alhaj Sakur, A; Michati, R; Alachkar, A
Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susceptibility to schizophrenia in a Syrian study cohort.
Asian J Psychiatr. 2012; 5(2):144-149
Doi: 10.1016/j.ajp.2012.03.002
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Tarner, IH; Erkal, MZ; Obermayer-Pietsch, BM; Hofbauer, LC; Bergmann, S; Goettsch, C; Madlener, K; Müller-Ladner, U; Lange, U
Osteometabolic and osteogenetic pattern of Turkish immigrants in Germany.
Exp Clin Endocrinol Diabetes. 2012; 120(9):517-523
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Trummer, O; Schwetz, V; Walter-Finell, D; Lerchbaum, E; Renner, W; Gugatschka, M; Dobnig, H; Pieber, TR; Obermayer-Pietsch, B
Allelic Determinants of Vitamin D Insufficiency, Bone Mineral Density, and Bone Fractures.
J Clin Endocrinol Metab. 2012; 97(7): E1234-E1240.
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Zimon, M; Baets, J; Almeida-Souza, L; De Vriendt, E; Nikodinovic, J; Parman, Y; Battaloglu, E; Matur, Z; Guergueltcheva, V; Tournev, I; Auer-Grumbach, M; De Rijk, P; Petersen, BS; Muller, T; Fransen, E; Van Damme, P; Loscher, WN; Barisic, N; Mitrovic, Z; Previtali, SC; Topaloglu, H; Bernert, G; Beleza-Meireles, A; Todorovic, S; Savic-Pavicevic, D; Ishpekova, B; Lechner, S; Peeters, K; Ooms, T; Hahn, AF; Zuchner, S; Timmerman, V; Van Dijck, P; Rasic, VM; Janecke, AR; De Jonghe, P; Jordanova, A;
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
NAT GENET. 2012; 44(10): 1080-1083.
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2011
Lerchbaum, E; Trummer, O; Giuliani, A; Gruber, HJ; Pieber, TR; Obermayer-Pietsch, B
Susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21, and 9q33.3 in a cohort of Caucasian women.
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Schmidt, H; Zeginigg, M; Wiltgen, M; Freudenberger, P; Petrovic, K; Cavalieri, M; Gider, P; Enzinger, C; Fornage, M; Debette, S; Rotter, JI; Ikram, MA; Launer, LJ; Schmidt, R; CHARGE consortium Neurology working group
Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.
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2010
Lemmens, R; Buysschaert, I; Geelen, V; Fernandez, I; Montaner, J; Schmidt, H; Schmidt, R; Attia, J; Maguire, J; Levi, C; Jood, K; Blomstrand, C; Jern, C; Wnuk, M; Slowik, A; Lambrechts, D; Thijs, V; International Stroke Genetics Consortium
The association of the 4q25 susceptibility variant for atrial fibrillation with stroke is limited to stroke of cardioembolic etiology.
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Paisán-Ruiz, C; Guevara, R; Federoff, M; Hanagasi, H; Sina, F; Elahi, E; Schneider, SA; Schwingenschuh, P; Bajaj, N; Emre, M; Singleton, AB; Hardy, J; Bhatia, KP; Brandner, S; Lees, AJ; Houlden, H
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
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Resch, B; Radinger, A; Mannhalter, C; Horvath, B; Binder, A; Zenz, W; Walcher, W; Haas, J; Müller, WD; Pertl, B
Maternal interleukin-6 (-174) C/C polymorphism is associated with chorioamnionitis and cystic periventricular leucomalacia of the preterm infant.
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