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

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Publikationen

Suchbegriffe: EARLY-ONSET, . Treffer: 60

2019

Kalman, JL; Papiol, S; Forstner, AJ; Heilbronner, U; Degenhardt, F; Strohmaier, J; Adli, M; Adorjan, K; Akula, N; Alda, M; Anderson-Schmidt, H; Andlauer, TF; Anghelescu, IG; Ardau, R; Arias, B; Arolt, V; Aubry, JM; Backlund, L; Bartholdi, K; Bauer, M; Baune, BT; Becker, T; Bellivier, F; Benabarre, A; Bengesser, S; Bhattacharjee, AK; Biernacka, JM; Birner, A; Brichant-Petitjean, C; Budde, M; Cervantes, P; Chillotti, C; Cichon, S; Clark, SR; Colom, F; Comes, AL; Cruceanu, C; Czerski, PM; Dannlowski, U; Dayer, A; Del Zompo, M; DePaulo, JR; Dietrich, DE; Étain, B; Ethofer, T; Falkai, P; Fallgatter, A; Figge, C; Flatau, L; Folkerts, H; Frisen, L; Frye, MA; Fullerton, JM; Gade, K; Gard, S; Garnham, JS; Goes, FS; Grigoroiu-Serbanescu, M; Gryaznova, A; Hake, M; Hauser, J; Herms, S; Hoffmann, P; Hou, L; Jäger, M; Jamain, S; Jiménez, E; Juckel, G; Kahn, JP; Kassem, L; Kelsoe, J; Kittel-Schneider, S; Kliwicki, S; Klohn-Sagatholislam, F; Koller, M; König, B; Konrad, C; Lackner, N; Laje, G; Landén, M; Lang, FU; Lavebratt, C; Leboyer, M; Leckband, SG; Maj, M; Manchia, M; Martinsson, L; McCarthy, MJ; McElroy, SL; McMahon, FJ; Mitchell, PB; Mitjans, M; Mondimore, FM; Monteleone, P; Nieratschker, V; Nievergelt, CM; Novák, T; Ösby, U; Pfennig, A; Potash, JB; Reich-Erkelenz, D; Reif, A; Reimer, J; Reininghaus, E; Reitt, M; Ripke, S; Rouleau, GA; Rybakowski, JK; Schalling, M; Scherk, H; Schmauß, M; Schofield, PR; Schubert, KO; Schulte, EC; Schulz, S; Senner, F; Severino, G; Shekhtman, T; Shilling, PD; Simhandl, C; Slaney, CM; Spitzer, C; Squassina, A; Stamm, T; Stegmaier, S; Stierl, S; Stopkova, P; Thiel, A; Tighe, SK; Tortorella, A; Turecki, G; Vieta, E; Veeh, J; von Hagen, M; Wigand, ME; Wiltfang, J; Witt, S; Wright, A; Zandi, PP; Zimmermann, J; Nöthen, M; Rietschel, M; Schulze, TG Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.
Bipolar Disord. 2019; 21(1):68-75 [OPEN ACCESS]
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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. [OPEN ACCESS]
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Mayer-Pickel, K; Stern, C; Eberhard, K; Lang, U; Obermayer-Pietsch, B; Cervar-Zivkovic, M Comparison of mean platelet volume (MPV) and sFlt-1/PlGF ratio as predictive markers for preeclampsia.
J Matern Fetal Neonatal Med. 2019; 11(8):1-8
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Nonn, O; Güttler, J; Forstner, D; Maninger, S; Zadora, J; Balogh, A; Frolova, A; Glasner, A; Herse, F; Gauster, M Placental CX3CL1 is Deregulated by Angiotensin II and Contributes to a Pro-Inflammatory Trophoblast-Monocyte Interaction.
Int J Mol Sci. 2019; 20(3): [OPEN ACCESS]
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Papuc, SM; Abela, L; Steindl, K; Begemann, A; Simmons, TL; Schmitt, B; Zweier, M; Oneda, B; Socher, E; Crowther, LM; Wohlrab, G; Gogoll, L; Poms, M; Seiler, M; Papik, M; Baldinger, R; Baumer, A; Asadollahi, R; Kroell-Seger, J; Schmid, R; Iff, T; Schmitt-Mechelke, T; Otten, K; Hackenberg, A; Addor, MC; Klein, A; Azzarello-Burri, S; Sticht, H; Joset, P; Plecko, B; Rauch, A The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet. 2019; 27(3):408-421 [OPEN ACCESS]
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Patel, D; Mez, J; Vardarajan, BN; Staley, L; Chung, J; Zhang, X; Farrell, JJ; Rynkiewicz, MJ; Cannon-Albright, LA; Teerlink, CC; Stevens, J; Corcoran, C; Gonzalez Murcia, JD; Lopez, OL; Mayeux, R; Haines, JL; Pericak-Vance, MA; Schellenberg, G; Kauwe, JSK; Lunetta, KL; Farrer, LA; Alzheimer’s Disease Sequencing Project Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.
JAMA Netw Open. 2019; 2(3):e191350-e191350 [OPEN ACCESS]
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Preising, MN; Schneider, U; Friedburg, C; Gruber, H; Lindner, S; Lorenz, B [The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
KLIN MONATSBL AUGENH. 2019; 236(3): 244-252.
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Puchner, A; Gröchenig, HP; Sautner, J; Helmy-Bader, Y; Juch, H; Reinisch, S; Högenauer, C; Koch, R; Hermann, J; Studnicka-Benke, A; Weger, W; Puchner, R; Dejaco, C Immunosuppressives and biologics during pregnancy and lactation : A consensus report issued by the Austrian Societies of Gastroenterology and Hepatology and Rheumatology and Rehabilitation.
Wien Klin Wochenschr. 2019; 131(1-2): 29-44. [OPEN ACCESS]
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Wallis, C; Alexopoulou, E; Antón-Pacheco, JL; Bhatt, JM; Bush, A; Chang, AB; Charatsi, AM; Coleman, C; Depiazzi, J; Douros, K; Eber, E; Everard, M; Kantar, A; Masters, IB; Midulla, F; Nenna, R; Roebuck, D; Snijders, D; Priftis, K ERS Statement on Tracheomalacia and Bronchomalacia in Children.
Eur Respir J. 2019; [OPEN ACCESS]
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2018

Huppertz, B The critical role of abnormal trophoblast development in the etiology of preeclampsia.
Curr Pharm Biotechnol. 2018; 12(4): [OPEN ACCESS]
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Hutabarat, M; Wibowo, N; Obermayer-Pietsch, B; Huppertz, B Impact of vitamin D and vitamin D receptor on the trophoblast survival capacity in preeclampsia.
PLoS One. 2018; 13(11):e0206725-e0206725 [OPEN ACCESS]
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Mayer-Pickel, K; Stern, C; Eberhard, K; Lang, U; Obermayer-Pietsch, B; Cervar-Zivkovic, M Angiogenic factors in pregnancies of women with antiphospholipid syndrome and systemic lupus erythematosus.
J Reprod Immunol. 2018; 127(4):19-23
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O'Byrne, JJ; Tarailo-Graovac, M; Ghani, A; Champion, M; Deshpande, C; Dursun, A; Ozgul, RK; Freisinger, P; Garber, I; Haack, TB; Horvath, R; Barić, I; Husain, RA; Kluijtmans, LAJ; Kotzaeridou, U; Morris, AA; Ross, CJ; Santra, S; Smeitink, J; Tarnopolsky, M; Wortmann, SB; Mayr, JA; Brunner-Krainz, M; Prokisch, H; Wasserman, WW; Wevers, RA; Engelke, UF; Rodenburg, RJ; Ting, TW; McFarland, R; Taylor, RW; Salvarinova, R; van Karnebeek, CDM The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab. 2018; 123(1):28-42 (- Case Report) [OPEN ACCESS]
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Schwinger, W; Urban, C; Ulreich, R; Sperl, D; Karastaneva, A; Strenger, V; Lackner, H; Boztug, K; Albert, MH; Benesch, M; Seidel, MG The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.
Front Immunol. 2018; 9(94):2554-2554 [OPEN ACCESS]
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Zöhrer, E; Meinel, K; Fauler, G; Moser, VA; Greimel, T; Zobl, J; Schlagenhauf, A; Jahnel, J Neonatal sepsis leads to early rise of rare serum bile acid tauro-omega-muricholic acid (TOMCA).
Pediatr Res. 2018; 84(1):66-70 [OPEN ACCESS]
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2017

Evilä, A; Palmio, J; Vihola, A; Savarese, M; Tasca, G; Penttilä, S; Lehtinen, S; Jonson, PH; De Bleecker, J; Rainer, P; Auer-Grumbach, M; Pouget, J; Salort-Campana, E; Vilchez, JJ; Muelas, N; Olive, M; Hackman, P; Udd, B Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Mol Neurobiol. 2017; 54(9):7212-7223 [OPEN ACCESS]
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Hutabarat, M; Wibowo, N; Huppertz, B The trophoblast survival capacity in preeclampsia.
PLOS ONE. 2017; 12(11): e0186909-e0186909. [OPEN ACCESS]
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Lucovnik, M; Lackner, HK; Papousek, I; Schmid-Zalaudek, K; Schulter, G; Roessler, A; Moertl, MG Systemic vascular resistance and endogenous inhibitors of nitric oxide synthesis in early- compared to late-onset preeclampsia: preliminary findings.
Hypertens Pregnancy. 2017; 36(3):276-281
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Prokesch, A; Blaschitz, A; Bauer, T; Moser, G; Hiden, U; Zadora, J; Dechend, R; Herse, F; Gauster, M Placental DAPK1 and autophagy marker LC3B-II are dysregulated by TNF-α in a gestational age-dependent manner.
Histochem Cell Biol. 2017; 147(6):695-705 [OPEN ACCESS]
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Putaala, J; Martinez-Majander, N; Saeed, S; Yesilot, N; Jäkälä, P; Nerg, O; Tsivgoulis, G; Numminen, H; Gordin, D; von Sarnowski, B; Waje-Andreassen, U; Ylikotila, P; Roine, RO; Zedde, M; Huhtakangas, J; Fonseca, C; Redfors, P; de Leeuw, FE; Pezzini, A; Kõrv, J; Schneider, S; Tanislav, C; Enzinger, C; Jatuzis, D; Siegerink, B; Martínez-Sánchez, P; Grau, AJ; Palm, F; Groop, PH; Lanthier, S; Ten Cate, H; Pussinen, P; Paju, S; Sinisalo, J; Lehto, M; Lindgren, A; Ferro, J; Kittner, S; Fazekas, F; Gerdts, E; Tatlisumak, T Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Triggers, Causes, and Outcome (SECRETO): Rationale and design.
Eur Stroke J. 2017; 2(2): 116-125. [OPEN ACCESS]
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Skrabl-Baumgartner, A; Plecko, B; Schmidt, WM; König, N; Hershfield, M; Gruber-Sedlmayr, U; Lee-Kirsch, MA Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
Pediatr Rheumatol Online J. 2017; 15(1): 67-67. (- Case Report) [OPEN ACCESS]
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Weber, TM; Lackner, HK; Roessler, A; Papousek, I; Kolovetsiou-Kreiner, V; Lucovnik, M; Schmid-Zalaudek, K; Lang, U; Moertl, MG Heart rate variability and baroreceptor reflex sensitivity in early- versus late-onset preeclampsia.
PLoS One. 2017; 12(10):e0186521-e0186521 [OPEN ACCESS]
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Weyerer, V; Schneckenpointner, R; Filbeck, T; Burger, M; Hofstaedter, F; Wild, PJ; Fine, SW; Humphrey, PA; Dehner, LP; Amin, MB; Rüschoff, J; Boltze, C; Tannapfel, A; Zwarthoff, E; Lopez-Beltran, A; Montironi, R; Langner, C; Stoehr, R; Hartmann, A; Giedl, J Immunohistochemical and molecular characterizations in urothelial carcinoma of bladder in patients less than 45 years.
J Cancer. 2017; 8(3):323-331 [OPEN ACCESS]
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2016

Müller, C; Wendt, J; Rauscher, S; Burgstaller-Muehlbacher, S; Sunder-Plassmann, R; Scheurecker, C; Richtig, E; Fae, I; Fischer, G; Pehamberger, H; Okamoto, I Characterization of patients at high risk of melanoma in Austria.
BRIT J DERMATOL. 2016; 174(6): 1308-1317.
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Przybyl, L; Haase, N; Golic, M; Rugor, J; Solano, ME; Arck, PC; Gauster, M; Huppertz, B; Emontzpohl, C; Stoppe, C; Bernhagen, J; Leng, L; Bucala, R; Schulz, H; Heuser, A; Weedon-Fekjær, MS; Johnsen, GM; Peetz, D; Luft, FC; Staff, AC; Müller, DN; Dechend, R; Herse, F CD74-Downregulation of Placental Macrophage-Trophoblastic Interactions in Preeclampsia.
Circ Res. 2016; 119(1):55-68 [OPEN ACCESS]
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Resch, B; B, R; N, H Comparison Between Pathogen Associated Laboratory and Clinical Parameters in Early-Onset Sepsis of the Newborn.
Open Microbiol J. 2016; 10(10):133-139 [OPEN ACCESS]
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Zöhrer, E; Resch, B; Scharnagl, H; Schlagenhauf, A; Fauler, G; Stojakovic, T; Hofer, N; Lang, U; Jahnel, J Serum bile acids in term and preterm neonates: A case-control study determining reference values and the influence of early-onset sepsis.
Medicine (Baltimore). 2016; 95(44):e5219-e5219 [OPEN ACCESS]
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2015

Chiesa, C; Pacifico, L; Natale, F; Hofer, N; Osborn, JF; Resch, B Fetal and early neonatal interleukin-6 response.
Cytokine. 2015; 76(1):1-12 [OPEN ACCESS]
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Chiesa, C; Pacifico, L; Osborn, JF; Bonci, E; Hofer, N; Resch, B Early-Onset Neonatal Sepsis: Still Room for Improvement in Procalcitonin Diagnostic Accuracy Studies.
Medicine (Baltimore). 2015; 94(30):e1230-e1230 [OPEN ACCESS]
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Do, R; Stitziel, NO; Won, HH; Jørgensen, AB; Duga, S; Angelica Merlini, P; Kiezun, A; Farrall, M; Goel, A; Zuk, O; Guella, I; Asselta, R; Lange, LA; Peloso, GM; Auer, PL; NHLBI Exome Sequencing Project; Girelli, D; Martinelli, N; Farlow, DN; DePristo, MA; Roberts, R; Stewart, AF; Saleheen, D; Danesh, J; Epstein, SE; Sivapalaratnam, S; Hovingh, GK; Kastelein, JJ; Samani, NJ; Schunkert, H; Erdmann, J; Shah, SH; Kraus, WE; Davies, R; Nikpay, M; Johansen, CT; Wang, J; Hegele, RA; Hechter, E; Marz, W; Kleber, ME; Huang, J; Johnson, AD; Li, M; Burke, GL; Gross, M; Liu, Y; Assimes, TL; Heiss, G; Lange, EM; Folsom, AR; Taylor, HA; Olivieri, O; Hamsten, A; Clarke, R; Reilly, DF; Yin, W; Rivas, MA; Donnelly, P; Rossouw, JE; Psaty, BM; Herrington, DM; Wilson, JG; Rich, SS; Bamshad, MJ; Tracy, RP; Cupples, LA; Rader, DJ; Reilly, MP; Spertus, JA; Cresci, S; Hartiala, J; Tang, WH; Hazen, SL; Allayee, H; Reiner, AP; Carlson, CS; Kooperberg, C; Jackson, RD; Boerwinkle, E; Lander, ES; Schwartz, SM; Siscovick, DS; McPherson, R; Tybjaerg-Hansen, A; Abecasis, GR; Watkins, H; Nickerson, DA; Ardissino, D; Sunyaev, SR; O'Donnell, CJ; Altshuler, D; Gabriel, S; Kathiresan, S Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
NATURE. 2015; 518(7537): 102-106. [OPEN ACCESS]
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Mayer-Pickel, K; Horn, S; Lang, U; Cervar-Zivkovic, M Response to Plasmapheresis Measured by Angiogenic Factors in a Woman with Antiphospholipid Syndrome in Pregnancy.
Case Rep Obstet Gynecol. 2015; 2015(1):123408-123408 [OPEN ACCESS]
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Siwetz, M; Dieber-Rotheneder, M; Cervar-Zivkovic, M; Kummer, D; Kremshofer, J; Weiss, G; Herse, F; Huppertz, B; Gauster, M Placental fractalkine is up-regulated in severe early-onset preeclampsia.
Am J Pathol. 2015; 185(5):1334-1343 [OPEN ACCESS]
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2014

Bures, C; Bobak-Wieser, R; Koppitsch, C; Klatte, T; Zielinski, V; Freissmuth, M; Friedrich, G; Repasi, R; Hermann, M Late-onset palsy of the recurrent laryngeal nerve after thyroid surgery.
Br J Surg. 2014; 101(12):1556-1559
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Rainer, PP; Hao, S; Vanhoutte, D; Lee, DI; Koitabashi, N; Molkentin, JD; Kass, DA Cardiomyocyte-specific transforming growth factor β suppression blocks neutrophil infiltration, augments multiple cytoprotective cascades, and reduces early mortality after myocardial infarction.
Circ Res. 2014; 114(8):1246-1257 [OPEN ACCESS]
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Steinberger, E; Hofer, N; Resch, B Cord blood procalcitonin and Interleukin-6 are highly sensitive and specific in the prediction of early-onset sepsis in preterm infants.
Scand J Clin Lab Invest. 2014; 74(5):432-436
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2013

Matthaei, M; Hu, J; Meng, H; Lackner, EM; Eberhart, CG; Qian, J; Hao, H; Jun, AS Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.
Invest Ophthalmol Vis Sci. 2013; 54(3):1931-1940 [OPEN ACCESS]
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2012

Fruscalzo, A; Schmitz, R; Klockenbusch, W; Köhler, G; Londero, AP; Siwetz, M; Huppertz, B Human placental transthyretin in fetal growth restriction in combination with preeclampsia and the HELLP syndrome.
Histochem Cell Biol. 2012; 138(6):925-932
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Hofer, N; Zacharias, E; Müller, W; Resch, B An Update on the Use of C-Reactive Protein in Early-Onset Neonatal Sepsis: Current Insights and New Tasks.
Neonatology. 2012; 102(1): 25-36. [OPEN ACCESS]
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Hofer, N; Zacharias, E; Muller, W; Resch, B; Performance of the definitions of the systemic inflammatory response syndrome and sepsis in neonates.
J Perinat Med. 2012; 40(5):587-590
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Resch, B; Neubauer, K; Hofer, N; Resch, E; Maurer, U; Haas, J; Müller, W Episodes of hypocarbia and early-onset sepsis are risk factors for cystic periventricular leukomalacia in the preterm infant.
Early Hum Dev. 2012; 88(1): 27-31.
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2011

Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105 [OPEN ACCESS]
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Mangge, H; Renner, W; Almer, G; Weghuber, D; Möller, R; Horejsi, R Rs9939609 variant of the fat mass and obesity-associated gene and trunk obesity in adolescents.
J Obes. 2011; 2011(1):186368-186368 [OPEN ACCESS]
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Williams, T; Machann, W; Kühler, L; Hamm, H; Müller-Höcker, J; Zimmer, M; Ertl, G; Ritter, O; Beer, M; Schönberger, J Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Clin Res Cardiol. 2011; 100(12):1087-1093 (- Case Report) [OPEN ACCESS]
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2010

Bettermann, K; Vucur, M; Haybaeck, J; Koppe, C; Janssen, J; Heymann, F; Weber, A; Weiskirchen, R; Liedtke, C; Gassler, N; Müller, M; de Vos, R; Wolf, MJ; Boege, Y; Seleznik, GM; Zeller, N; Erny, D; Fuchs, T; Zoller, S; Cairo, S; Buendia, MA; Prinz, M; Akira, S; Tacke, F; Heikenwalder, M; Trautwein, C; Luedde, T TAK1 suppresses a NEMO-dependent but NF-kappaB-independent pathway to liver cancer.
Cancer Cell. 2010; 17(5):481-496 [OPEN ACCESS]
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2009

Rotthier, A; Baets, J; De Vriendt, E; Jacobs, A; Auer-Grumbach, M; Lévy, N; Bonello-Palot, N; Kilic, SS; Weis, J; Nascimento, A; Swinkels, M; Kruyt, MC; Jordanova, A; De Jonghe, P; Timmerman, V Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain. 2009; 132(Pt 10): 2699-2711. [OPEN ACCESS]
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2008

Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38 [OPEN ACCESS]
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Ralmer, N; Hoefler, G; Hogenauer, C; Lackner, C; Steinke, V; Sengteller, M; Friedl, W; Aretz, S; Propping, P; Mangold, E; Walldorf, C Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
AM J MED GENET PART A. 2008; 146A(10): 1314-1319. (- Case Report)
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2007

Heitzer, E; Lassacher, A; Quehenberger, F; Kerl, H; Wolf, P UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype.
J Invest Dermatol. 2007; 127(12): 2872-2881. [OPEN ACCESS]
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Plecko, B; Paul, K; Paschke, E; Stoeckler-Ipsiroglu, S; Struys, E; Jakobs, C; Hartmann, H; Luecke, T; di Capua, M; Korenke, C; Hikel, C; Reutershahn, E; Freilinger, M; Baumeister, F; Bosch, F; Erwa, W Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Hum Mutat. 2007; 28(1):19-26 [OPEN ACCESS]
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Weger, W; Hofer, A; Wolf, P; El-Shabrawi, Y; Renner, W; Kerl, H; Salmhofer, W The angiotensin-converting enzyme insertion/deletion and the endothelin -134 3A/4A gene polymorphisms in patients with chronic plaque psoriasis.
Exp Dermatol. 2007; 16(12): 993-998.
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