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

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Publikationen

Suchbegriffe: MUTATION, . Treffer: 959

2019

de Wit, S; Rossi, E; Weber, S; Tamminga, M; Manicone, M; Swennenhuis, JF; Groothuis-Oudshoorn, CGM; Vidotto, R; Facchinetti, A; Zeune, LL; Schuuring, E; Zamarchi, R; Hiltermann, TJN; Speicher, MR; Heitzer, E; Terstappen, LWMM; Groen, HJM Single tube liquid biopsy for advanced non-small cell lung cancer.
Int J Cancer. 2019; 144(12):3127-3137
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Fenderico, N; van Scherpenzeel, RC; Goldflam, M; Proverbio, D; Jordens, I; Kralj, T; Stryeck, S; Bass, TZ; Hermans, G; Ullman, C; Aastrup, T; Gros, P; Maurice, MM Anti-LRP5/6 VHHs promote differentiation of Wnt-hypersensitive intestinal stem cells.
Nat Commun. 2019; 10(1):365-365 [OPEN ACCESS]
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Franck, C; Rosania, R; Franke, S; Haybaeck, J; Canbay, A; Venerito, M The BRAF Status May Predict Response to Sorafenib in Gastrointestinal Stromal Tumors Resistant to Imatinib, Sunitinib, and Regorafenib: Case Series and Review of the Literature.
Digestion. 2019; 99(2):179-184
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Gallon, R; Mühlegger, B; Wenzel, SS; Sheth, H; Hayes, C; Aretz, S; Dahan, K; Foulkes, W; Kratz, CP; Ripperger, T; Azizi, AA; Baris Feldman, H; Chong, AL; Demirsoy, U; Florkin, B; Imschweiler, T; Januszkiewicz-Lewandowska, D; Lobitz, S; Nathrath, M; Pander, HJ; Perez-Alonso, V; Perne, C; Ragab, I; Rosenbaum, T; Rueda, D; Seidel, MG; Suerink, M; Taeubner, J; Zimmermann, SY; Zschocke, J; Borthwick, GM; Burn, J; Jackson, MS; Santibanez-Koref, M; Wimmer, K A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat. 2019; 40(5):649-655
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Grabner, GF; Fawzy, N; Pribasnig, MA; Trieb, M; Taschler, U; Holzer, M; Schweiger, M; Wolinski, H; Kolb, D; Horvath, A; Breinbauer, R; Rülicke, T; Rabl, R; Lass, A; Stadlbauer, V; Hutter-Paier, B; Stauber, RE; Fickert, P; Zechner, R; Marsche, G; Eichmann, TO; Zimmermann, R Metabolic disease and ABHD6 alter the circulating bis(monoacylglycerol)phosphate profile in mice and humans.
J Lipid Res. 2019; 60(5):1020-1031 [OPEN ACCESS]
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Gressenberger, P; Rief, P; Jud, P; Gütl, K; Muster, V; Ghanim, L; Brodmann, M; Gary, T Increased Bleeding Risk in a Patient with Oral Anticoagulant Therapy and Concomitant Herbal Intake - A Case Report.
EJIFCC. 2019; 30(1): 95-98. (- Case Report) [OPEN ACCESS]
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Jeanquartier, F; Jean-Quartier, C; Holzinger, A Use case driven evaluation of open databases for pediatric cancer research.
BIODATA MIN. 2019; 12(6): 2-2. [OPEN ACCESS]
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Li, JQ; Gong, JY; Knisely, AS; Zhang, MH; Wang, JS Recurrent acute liver failure associated with novel SCYL1 mutation: A case report
WORLD J CLIN CASES. 2019; 7(4): 494-499. [OPEN ACCESS]
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Lilly, E; Bunick, CG; Maley, AM; Zhang, S; Spraker, MK; Theos, AJ; Vivar, KL; Seminario-Vidal, L; Bennett, AE; Sidbury, R; Ogawa, Y; Akiyama, M; Binder, B; Hadj-Rabia, S; Morotti, RA; Glusac, EJ; Choate, KA; Richard, G; Milstone, LM More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
J Am Acad Dermatol. 2019; 80(3):617-625 [OPEN ACCESS]
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Majoor, BCJ; van de Sande, MAJ; Appelman-Dijkstra, NM; Leithner, A; Jutte, PC; Vélez, R; Perlaky, T; Staals, EL; Bovée, JVMG; Hamdy, NAT; Dijkstra, SPD Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study.
J Bone Joint Surg Am. 2019; 101(2):160-168
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Mishra, A; Chauhan, G; Violleau, MH; Vojinovic, D; Jian, X; Bis, JC; Li, S; Saba, Y; Grenier-Boley, B; Yang, Q; Bartz, TM; Hofer, E; Soumaré, A; Peng, F; Duperron, MG; Foglio, M; Mosley, TH; Schmidt, R; Psaty, BM; Launer, LJ; Boerwinkle, E; Zhu, Y; Mazoyer, B; Lathrop, M; Bellenguez, C; Van Duijn, CM; Ikram, MA; Schmidt, H; Longstreth, WT; Fornage, M; Seshadri, S; Joutel, A; Tzourio, C; Debette, S Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Brain. 2019; 142(4):1009-1023 [OPEN ACCESS]
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Pichler, R; Compérat, E; Klatte, T; Pichler, M; Loidl, W; Lusuardi, L; Schmidinger, M Renal Cell Carcinoma with Sarcomatoid Features: Finally New Therapeutic Hope?
Cancers (Basel). 2019; 11(3): [OPEN ACCESS]
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Prochazka, KT; Pregartner, G; Rücker, FG; Heitzer, E; Pabst, G; Wölfler, A; Zebisch, A; Berghold, A; Döhner, K; Sill, H Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.
Haematologica. 2019; 104(3):516-523 [OPEN ACCESS]
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Regauer, S; Kashofer, K; Reich, O Time series analysis of TP53 gene mutations in recurrent HPV-negative vulvar squamous cell carcinoma
MODERN PATHOL. 2019; 32(3): 415-422.
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Rhodes, CJ; Batai, K; Bleda, M; Haimel, M; Southgate, L; Germain, M; Pauciulo, MW; Hadinnapola, C; Aman, J; Girerd, B; Arora, A; Knight, J; Hanscombe, KB; Karnes, JH; Kaakinen, M; Gall, H; Ulrich, A; Harbaum, L; Cebola, I; Ferrer, J; Lutz, K; Swietlik, EM; Ahmad, F; Amouyel, P; Archer, SL; Argula, R; Austin, ED; Badesch, D; Bakshi, S; Barnett, C; Benza, R; Bhatt, N; Bogaard, HJ; Burger, CD; Chakinala, M; Church, C; Coghlan, JG; Condliffe, R; Corris, PA; Danesino, C; Debette, S; Elliott, CG; Elwing, J; Eyries, M; Fortin, T; Franke, A; Frantz, RP; Frost, A; Garcia, JGN; Ghio, S; Ghofrani, HA; Gibbs, JSR; Harley, J; He, H; Hill, NS; Hirsch, R; Houweling, AC; Howard, LS; Ivy, D; Kiely, DG; Klinger, J; Kovacs, G; Lahm, T; Laudes, M; Machado, RD; MacKenzie Ross, RV; Marsolo, K; Martin, LJ; Moledina, S; Montani, D; Nathan, SD; Newnham, M; Olschewski, A; Olschewski, H; Oudiz, RJ; Ouwehand, WH; Peacock, AJ; Pepke-Zaba, J; Rehman, Z; Robbins, I; Roden, DM; Rosenzweig, EB; Saydain, G; Scelsi, L; Schilz, R; Seeger, W; Shaffer, CM; Simms, RW; Simon, M; Sitbon, O; Suntharalingam, J; Tang, H; Tchourbanov, AY; Thenappan, T; Torres, F; Toshner, MR; Treacy, CM; Vonk Noordegraaf, A; Waisfisz, Q; Walsworth, AK; Walter, RE; Wharton, J; White, RJ; Wilt, J; Wort, SJ; Yung, D; Lawrie, A; Humbert, M; Soubrier, F; Trégouët, DA; Prokopenko, I; Kittles, R; Gräf, S; Nichols, WC; Trembath, RC; Desai, AA; Morrell, NW; Wilkins, MR; UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
Lancet Respir Med. 2019; 7(3):227-238 [OPEN ACCESS]
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Richtig, G; Aigelsreiter, AM; Asslaber, M; Weiland, T; Pichler, M; Eberhard, K; Sygulla, S; Schauer, S; Hoefler, G; Aigelsreiter, A Hedgehog pathway proteins SMO and GLI expression as prognostic marker in head and neck squamous cell carcinoma - a retrospective immunohistochemical study.
Histopathology. 2019; [OPEN ACCESS]
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Riedl, S; Röhl, FW; Bonfig, W; Brämswig, J; Richter-Unruh, A; Fricke-Otto, S; Bettendorf, M; Riepe, F; Kriegshäuser, G; Schönau, E; Even, G; Hauffa, B; Dörr, HG; Holl, RW; Mohnike, K; AQUAPE CAH Study Group Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Endocr Connect. 2019; 8(2):86-94 [OPEN ACCESS]
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Rössler, I; Embacher, J; Pillet, B; Murat, G; Liesinger, L; Hafner, J; Unterluggauer, JJ; Birner-Gruenberger, R; Kressler, D; Pertschy, B Tsr4 and Nap1, two novel members of the ribosomal protein chaperOME.
Nucleic Acids Res. 2019;
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Schumacher, D; Andrieux, G; Boehnke, K; Keil, M; Silvestri, A; Silvestrov, M; Keilholz, U; Haybaeck, J; Erdmann, G; Sachse, C; Templin, M; Hoffmann, J; Boerries, M; Schäfer, R; Regenbrecht, CRA Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.
PLoS Genet. 2019; 15(3):e1008076-e1008076 [OPEN ACCESS]
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Seeboeck, R; Sarne, V; Haybaeck, J Current Coverage of the mTOR Pathway by Next-Generation Sequencing Oncology Panels.
Int J Mol Sci. 2019; 20(3): [OPEN ACCESS]
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Shboul, M; Roschger, P; Ganger, R; Paschalis, L; Rokidi, S; Zandieh, S; Behunova, J; Muschitz, C; Fahrleitner-Pammer, A; Ng, AYJ; Tohari, S; Venkatesh, B; Bonnard, C; Reversade, B; Klaushofer, K; Al Kaissi, A Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.
Bone. 2019; 123:48-55
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Smolle, MA; Kashofer, K; Riedl, JM; Stotz, M; Gerger, A Genetic Analysis Using a Gene Panel in 87 Caucasian Patients With Colorectal Cancer: Own Results and Review of Literature.
Anticancer Res. 2019; 39(2): 847-852.
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Stecher, M; Chaillon, A; Eis-Hübinger, AM; Lehmann, C; Fätkenheuer, G; Wasmuth, JC; Knops, E; Vehreschild, JJ; Mehta, S; Hoenigl, M Pretreatment human immunodeficiency virus type 1 (HIV-1) drug resistance in transmission clusters of the Cologne-Bonn region, Germany.
Clin Microbiol Infect. 2019; 25(2):253.e1-253253 [OPEN ACCESS]
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Wadsack, D; Sattler, H; Kleber, ME; Eirich, K; Scharnagl, H; Fauler, G; März, W; Grammer, TB Recurrent tendosynovitis as a rare manifestation of a lipid disorder.
J Clin Lipidol. 2019; 13(1): 54-61.
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Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Kostl, G; Feichtinger, RG; Entenmann, A; Muller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series
J PEDIATR GASTR NUTR. 2019; 68(1): E1-E6.
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2018

Alfadhel, M; Nashabat, M; Alrifai, MT; Alshaalan, H; Al Mutairi, F; Al-Shahrani, SA; Plecko, B; Almass, R; Alsagob, M; Almutairi, FB; Al-Rumayyan, A; Al-Twaijri, W; Al-Owain, M; Taylor, RW; Kaya, N Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Eur J Paediatr Neurol. 2018; 22(1): 46-55.
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Al-Zoughbi, W; Schauer, S; Pichler, M; Hoefler, G Early Loss of Forkhead Transcription Factor, O Subgroup, Member 1 Protein in the Development of Pancreatic Ductal Adenocarcinoma.
Pathobiology. 2018; 85(5-6): 342-347. [OPEN ACCESS]
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Aygören-Pürsün, E; Bygum, A; Grivcheva-Panovska, V; Magerl, M; Graff, J; Steiner, UC; Fain, O; Huissoon, A; Kinaciyan, T; Farkas, H; Lleonart, R; Longhurst, HJ; Rae, W; Triggiani, M; Aberer, W; Cancian, M; Zanichelli, A; Smith, WB; Baeza, ML; Du-Thanh, A; Gompels, M; Gonzalez-Quevedo, T; Greve, J; Guilarte, M; Katelaris, C; Dobo, S; Cornpropst, M; Clemons, D; Fang, L; Collis, P; Sheridan, W; Maurer, M; Cicardi, M Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
NEW ENGL J MED. 2018; 379(4): 352-362. [OPEN ACCESS]
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Barzaghi, F; Amaya Hernandez, LC; Neven, B; Ricci, S; Kucuk, ZY; Bleesing, JJ; Nademi, Z; Slatter, MA; Ulloa, ER; Shcherbina, A; Roppelt, A; Worth, A; Silva, J; Aiuti, A; Murguia-Favela, L; Speckmann, C; Carneiro-Sampaio, M; Fernandes, JF; Baris, S; Ozen, A; Karakoc-Aydiner, E; Kiykim, A; Schulz, A; Steinmann, S; Notarangelo, LD; Gambineri, E; Lionetti, P; Shearer, WT; Forbes, LR; Martinez, C; Moshous, D; Blanche, S; Fisher, A; Ruemmele, FM; Tissandier, C; Ouachee-Chardin, M; Rieux-Laucat, F; Cavazzana, M; Qasim, W; Lucarelli, B; Albert, MH; Kobayashi, I; Alonso, L; Diaz De Heredia, C; Kanegane, H; Lawitschka, A; Seo, JJ; Gonzalez-Vicent, M; Diaz, MA; Goyal, RK; Sauer, MG; Yesilipek, A; Kim, M; Yilmaz-Demirdag, Y; Bhatia, M; Khlevner, J; Richmond Padilla, EJ; Martino, S; Montin, D; Neth, O; Molinos-Quintana, A; Valverde-Fernandez, J; Broides, A; Pinsk, V; Ballauf, A; Haerynck, F; Bordon, V; Dhooge, C; Garcia-Lloret, ML; Bredius, RG; Kałwak, K; Haddad, E; Seidel, MG; Duckers, G; Pai, SY; Dvorak, CC; Ehl, S; Locatelli, F; Goldman, F; Gennery, AR; Cowan, MJ; Roncarolo, MG; Bacchetta, R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT) Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
J Allergy Clin Immunol. 2018; 141(3):1036-1049 [OPEN ACCESS]
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Berger, AW; Raedler, K; Langner, C; Ludwig, L; Dikopoulos, N; Becker, KF; Slotta-Huspenina, J; Quante, M; Schwerdel, D; Perkhofer, L; Kleger, A; Zizer, E; Oswald, F; Seufferlein, T; Meining, A Genetic Biopsy for Prediction of Surveillance Intervals after Endoscopic Resection of Colonic Polyps: Results of the GENESIS Study.
United European Gastroenterol J. 2018; 6(2): 290-299. [OPEN ACCESS]
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Berger, M; Richtig, G; Kashofer, K; Aigelsreiter, A; Richtig, E The window of opportunities for targeted therapy in BRAFwt/NRASwt/KITwt melanoma: biology and clinical implications of fusion proteins and other mutations.
G Ital Dermatol Venereol. 2018; 153(3): 349-360. [OPEN ACCESS]
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Bobbili, DR; Lal, D; May, P; Reinthaler, EM; Jabbari, K; Thiele, H; Nothnagel, M; Jurkowski, W; Feucht, M; Nürnberg, P; Lerche, H; Zimprich, F; Krause, R; Neubauer, BA; Reinthaler, EM; Zimprich, F; Feucht, M; Steinböck, H; Neophytou, B; Geldner, J; Gruber-Sedlmayr, U; Haberlandt, E; Ronen, GM; Altmüller, J; Lal, D; Nürnberg, P; Sander, T; Thiele, H; Krause, R; May, P; Balling, R; Lerche, H; Neubauer, BA; EUROEPINOMICS COGIE Consortium Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
EUR J HUM GENET. 2018; 26(2): 258-264. [OPEN ACCESS]
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Buder, A; Hochmair, MJ; Schwab, S; Bundalo, T; Schenk, P; Errhalt, P; Mikes, RE; Absenger, G; Patocka, K; Baumgartner, B; Setinek, U; Burghuber, OC; Prosch, H; Pirker, R; Filipits, M Cell-Free Plasma DNA-Guided Treatment With Osimertinib in Patients With Advanced EGFR-Mutated NSCLC.
J THORAC ONCOL. 2018; 13(6): 821-830.
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Davidson, B; Pinamonti, M; Cuevas, D; Holth, A; Zeppa, P; Hager, T; Wohlschlaeger, J; Tötsch, M The diagnostic role of PTEN and ARID1A in serous effusions.
Virchows Arch. 2018; 472(3):425-432
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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.
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Deshwar, A; Margonis, GA; Andreatos, N; Barbon, C; Wang, J; Buettner, S; Wagner, D; Sasaki, K; Beer, A; Loes, IM; Pikoulis, E; Damaskos, C; Garmpis, N; Kamphues, K; He, J; Kaczirek, K; Poultsides, G; Lonning, PE; Mischinger, HJ; Aucejo, FN; Kreis, ME; Wolfgang, CL; Weis, MJ Double KRAS and BRAF Mutations in Surgically Treated Colorectal Cancer Liver Metastases: An International, Multi-institutional Case Series
ANTICANCER RES. 2018; 38(5): 2891-2895.
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El-Heliebi, A; Hille, C; Laxman, N; Svedlund, J; Haudum, C; Ercan, E; Kroneis, T; Chen, S; Smolle, M; Rossmann, C; Krzywkowski, T; Ahlford, A; Darai, E; von Amsberg, G; Alsdorf, W; König, F; Löhr, M; de Kruijff, I; Riethdorf, S; Gorges, TM; Pantel, K; Bauernhofer, T; Nilsson, M; Sedlmayr, P In Situ Detection and Quantification of AR-V7, AR-FL, PSA, andKRASPoint Mutations in Circulating Tumor Cells.
Clin Chem. 2018; 64(3):536-546 [OPEN ACCESS]
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Finsterer, J; Stöllberger, C; Freudenthaler, B; Simoni, D; Höftberger, R; Wagner, K Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29.
INTRACTABLE RARE DIS. 2018; 7(2): 120-125. [OPEN ACCESS]
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Gaksch, L; Kashofer, K; Heitzer, E; Quehenberger, F; Daga, S; Hofer, S; Halbwedl, I; Graf, R; Krisper, N; Hoefler, G; Zebisch, A; Sill, H; Wölfler, A Residual disease detection using targeted parallel sequencing predicts relapse in cytogenetically normal acute myeloid leukemia.
Am J Hematol. 2018; 93(1):23-30 [OPEN ACCESS]
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Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bär, S; Kröll, A; Delbarre, M; Antin, M; Leuvrey, AS; Henry, C; Blanché, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, JF; Friant, S; Saunier, S; Rozet, JM; Bergmann, C; Dollfus, H; Muller, J Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat. 2018; 39(7):983-992
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Glöcklhofer, CR; Steinfurt, J; Franke, G; Hoppmann, A; Glantschnig, T; Perez-Feliz, S; Alter, S; Fischer, J; Brunner, M; Rainer, PP; Köttgen, A; Bode, C; Odening, KE A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.
Europace. 2018; 20(12):2003-2013
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Golsari, A; Nasimzadah, A; Thomalla, G; Keller, S; Gerloff, C; Magnus, T Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.
Neuromuscul Disord. 2018; 28(3):257-261
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Gräf, S; Haimel, M; Bleda, M; Hadinnapola, C; Southgate, L; Li, W; Hodgson, J; Liu, B; Salmon, RM; Southwood, M; Machado, RD; Martin, JM; Treacy, CM; Yates, K; Daugherty, LC; Shamardina, O; Whitehorn, D; Holden, S; Aldred, M; Bogaard, HJ; Church, C; Coghlan, G; Condliffe, R; Corris, PA; Danesino, C; Eyries, M; Gall, H; Ghio, S; Ghofrani, HA; Gibbs, JSR; Girerd, B; Houweling, AC; Howard, L; Humbert, M; Kiely, DG; Kovacs, G; MacKenzie Ross, RV; Moledina, S; Montani, D; Newnham, M; Olschewski, A; Olschewski, H; Peacock, AJ; Pepke-Zaba, J; Prokopenko, I; Rhodes, CJ; Scelsi, L; Seeger, W; Soubrier, F; Stein, DF; Suntharalingam, J; Swietlik, EM; Toshner, MR; van Heel, DA; Vonk Noordegraaf, A; Waisfisz, Q; Wharton, J; Wort, SJ; Ouwehand, WH; Soranzo, N; Lawrie, A; Upton, PD; Wilkins, MR; Trembath, RC; Morrell, NW Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Nat Commun. 2018; 9(1): 1416-1416. [OPEN ACCESS]
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Graham, RP; Lackner, C; Terracciano, L; González-Cantú, Y; Maleszewski, JJ; Greipp, PT; Simon, SM; Torbenson, MS Fibrolamellar carcinoma in the Carney complex: PRKAR1A loss instead of the classic DNAJB1-PRKACA fusion.
Hepatology. 2018; 68(4): 1441-1447. [OPEN ACCESS]
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Griewank, KG; Wiesner, T; Murali, R; Pischler, C; Müller, H; Koelsche, C; Möller, I; Franklin, C; Cosgarea, I; Sucker, A; Schadendorf, D; Schaller, J; Horn, S; Brenn, T; Mentzel, T Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles.
Mod Pathol. 2018; 31(3): 418-428. [OPEN ACCESS]
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Hajek, E; Krebs, F; Bent, R; Haas, K; Bast, A; Steinmetz, I; Tuettenberg, A; Grabbe, S; Bros, M BRAF inhibitors stimulate inflammasome activation and interleukin 1 beta production in dendritic cells.
Oncotarget. 2018; 9(47): 28294-28308. [OPEN ACCESS]
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Harripaul, R; Vasli, N; Mikhailov, A; Rafiq, MA; Mittal, K; Windpassinger, C; Sheikh, TI; Noor, A; Mahmood, H; Downey, S; Johnson, M; Vleuten, K; Bell, L; Ilyas, M; Khan, FS; Khan, V; Moradi, M; Ayaz, M; Naeem, F; Heidari, A; Ahmed, I; Ghadami, S; Agha, Z; Zeinali, S; Qamar, R; Mozhdehipanah, H; John, P; Mir, A; Ansar, M; French, L; Ayub, M; Vincent, JB Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Mol Psychiatry. 2018; 23(4):973-984
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