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

Logo MUG-Forschungsportal

Publikationen

Suchbegriffe: MUTATION - , . Treffer: 388

2019

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. [OPEN ACCESS]
PubMed PUBMED Central FullText FullText_MUG

 

2018

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]
Web of Science PubMed PUBMED Central 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.
Web of Science PubMed FullText FullText_MUG

 

Deshwar, A; Margonis, GA; Andreatos, N; Barbon, C; Wang, J; Buettner, S; Wagner, D; Sasaki, K; Beer, A; Løes, IM; Pikoulis, E; Damaskos, C; Garmpis, N; Kamphues, K; He, J; Kaczirek, K; Poultsides, G; Lønning, PE; Mischinger, HJ; Aucejo, FN; Kreis, ME; Wolfgang, CL; Weiss, 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 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

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, and KRAS Point Mutations in Circulating Tumor Cells.
Clin Chem. 2018; 64(3):536-546 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Hofweber, M; Hutten, S; Bourgeois, B; Spreitzer, E; Niedner-Boblenz, A; Schifferer, M; Ruepp, MD; Simons, M; Niessing, D; Madl, T; Dormann, D Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation.
Cell. 2018; 173(3):706-719 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Margonis, GA; Buettner, S; Andreatos, N; Wagner, D; Sasaki, K; Galjart, B; Kamphues, C; Pawlik, TM; Poultsides, G; Kaczirek, K; Lønning, PE; Verhoef, C; Kreis, ME; Wolfgang, CL; Weiss, MJ The prognosis of colorectal cancer liver metastases associated with inflammatory bowel disease: An exploratory analysis.
J Surg Oncol. 2018; 118(7):1074-1080
Web of Science PubMed FullText FullText_MUG

 

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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Rengachari, S; Groiss, S; Devos, JM; Caron, E; Grandvaux, N; Panne, D Structural basis of STAT2 recognition by IRF9 reveals molecular insights into ISGF3 function.
Proc Natl Acad Sci U S A. 2018; 115(4): E601-E609. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Saraggi, D; Salmaso, R; Zamuner, C; Munari, G; Lanza, C; Alaibac, MS; Bassetto, F; Rugge, M; Montesco, MC; Cerroni, L; Fassan, M Prevalence of ALK gene alterations among the spectrum of plexiform spitzoid lesions.
J Am Acad Dermatol. 2018; 79(4):728-735
Web of Science PubMed FullText FullText_MUG

 

Tsibulak, I; Wieser, V; Degasper, C; Shivalingaiah, G; Wenzel, S; Sprung, S; Lax, SF; Marth, C; Fiegl, H; Zeimet, AG BRCA1 and BRCA2 mRNA-expression prove to be of clinical impact in ovarian cancer.
Br J Cancer. 2018; 119(6):683-692 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Zhong, Q; Wagner, U; Kurt, H; Molinari, F; Cathomas, G; Komminoth, P; Barman-Aksözen, J; Schneider-Yin, X; Rey, JP; Vassella, E; Rogel, U; Diebold, J; McKee, T; Jochum, W; Kashofer, K; Hofman, P; Zischka, M; Moch, H; Rechsteiner, M; Wild, PJ Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing.
Pathol Res Pract. 2018; 214(7):957-963
Web of Science PubMed FullText FullText_MUG

 

2017

Amankulor, NM; Kim, Y; Arora, S; Kargl, J; Szulzewsky, F; Hanke, M; Margineantu, DH; Rao, A; Bolouri, H; Delrow, J; Hockenbery, D; Houghton, AM; Holland, EC Mutant IDH1 regulates the tumor-associated immune system in gliomas.
Genes Dev. 2017; 31(8):774-786 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Aung, T; Ozaki, M; Lee, MC; Schlötzer-Schrehardt, U; Thorleifsson, G; Mizoguchi, T; Igo, RP; Haripriya, A; Williams, SE; Astakhov, YS; Orr, AC; Burdon, KP; Nakano, S; Mori, K; Abu-Amero, K; Hauser, M; Li, Z; Prakadeeswari, G; Bailey, JNC; Cherecheanu, AP; Kang, JH; Nelson, S; Hayashi, K; Manabe, SI; Kazama, S; Zarnowski, T; Inoue, K; Irkec, M; Coca-Prados, M; Sugiyama, K; Järvelä, I; Schlottmann, P; Lerner, SF; Lamari, H; Nilgün, Y; Bikbov, M; Park, KH; Cha, SC; Yamashiro, K; Zenteno, JC; Jonas, JB; Kumar, RS; Perera, SA; Chan, ASY; Kobakhidze, N; George, R; Vijaya, L; Do, T; Edward, DP; de Juan Marcos, L; Pakravan, M; Moghimi, S; Ideta, R; Bach-Holm, D; Kappelgaard, P; Wirostko, B; Thomas, S; Gaston, D; Bedard, K; Greer, WL; Yang, Z; Chen, X; Huang, L; Sang, J; Jia, H; Jia, L; Qiao, C; Zhang, H; Liu, X; Zhao, B; Wang, YX; Xu, L; Leruez, S; Reynier, P; Chichua, G; Tabagari, S; Uebe, S; Zenkel, M; Berner, D; Mossböck, G; Weisschuh, N; Hoja, U; Welge-Luessen, UC; Mardin, C; Founti, P; Chatzikyriakidou, A; Pappas, T; Anastasopoulos, E; Lambropoulos, A; Ghosh, A; Shetty, R; Porporato, N; Saravanan, V; Venkatesh, R; Shivkumar, C; Kalpana, N; Sarangapani, S; Kanavi, MR; Beni, AN; Yazdani, S; Lashay, A; Naderifar, H; Khatibi, N; Fea, A; Lavia, C; Dallorto, L; Rolle, T; Frezzotti, P; Paoli, D; Salvi, E; Manunta, P; Mori, Y; Miyata, K; Higashide, T; Chihara, E; Ishiko, S; Yoshida, A; Yanagi, M; Kiuchi, Y; Ohashi, T; Sakurai, T; Sugimoto, T; Chuman, H; Aihara, M; Inatani, M; Miyake, M; Gotoh, N; Matsuda, F; Yoshimura, N; Ikeda, Y; Ueno, M; Sotozono, C; Jeoung, JW; Sagong, M; Park, KH; Ahn, J; Cruz-Aguilar, M; Ezzouhairi, SM; Rafei, A; Chong, YF; Ng, XY; Goh, SR; Chen, Y; Yong, VHK; Khan, MI; Olawoye, OO; Ashaye, AO; Ugbede, I; Onakoya, A; Kizor-Akaraiwe, N; Teekhasaenee, C; Suwan, Y; Supakontanasan, W; Okeke, S; Uche, NJ; Asimadu, I; Ayub, H; Akhtar, F; Kosior-Jarecka, E; Lukasik, U; Lischinsky, I; Castro, V; Grossmann, RP; Sunaric Megevand, G; Roy, S; Dervan, E; Silke, E; Rao, A; Sahay, P; Fornero, P; Cuello, O; Sivori, D; Zompa, T; Mills, RA; Souzeau, E; Mitchell, P; Wang, JJ; Hewitt, AW; Coote, M; Crowston, JG; Astakhov, SY; Akopov, EL; Emelyanov, A; Vysochinskaya, V; Kazakbaeva, G; Fayzrakhmanov, R; Al-Obeidan, SA; Owaidhah, O; Aljasim, LA; Chowbay, B; Foo, JN; Soh, RQ; Sim, KS; Xie, Z; Cheong, AWO; Mok, SQ; Soo, HM; Chen, XY; Peh, SQ; Heng, KK; Husain, R; Ho, SL; Hillmer, AM; Cheng, CY; Escudero-Domínguez, FA; González-Sarmiento, R; Martinon-Torres, F; Salas, A; Pathanapitoon, K; Hansapinyo, L; Wanichwecharugruang, B; Kitnarong, N; Sakuntabhai, A; Nguyn, HX; Nguyn, GTT; Nguyn, TV; Zenz, W; Binder, A; Klobassa, DS; Hibberd, ML; Davila, S; Herms, S; Nöthen, MM; Moebus, S; Rautenbach, RM; Ziskind, A; Carmichael, TR; Ramsay, M; Álvarez, L; García, M; González-Iglesias, H; Rodríguez-Calvo, PP; Fernández-Vega Cueto, L; Oguz, Ç; Tamcelik, N; Atalay, E; Batu, B; Aktas, D; Kasım, B; Wilson, MR; Coleman, AL; Liu, Y; Challa, P; Herndon, L; Kuchtey, RW; Kuchtey, J; Curtin, K; Chaya, CJ; Crandall, A; Zangwill, LM; Wong, TY; Nakano, M; Kinoshita, S; den Hollander, AI; Vesti, E; Fingert, JH; Lee, RK; Sit, AJ; Shingleton, BJ; Wang, N; Cusi, D; Qamar, R; Kraft, P; Pericak-Vance, MA; Raychaudhuri, S; Heegaard, S; Kivelä, T; Reis, A; Kruse, FE; Weinreb, RN; Pasquale, LR; Haines, JL; Thorsteinsdottir, U; Jonasson, F; Allingham, RR; Milea, D; Ritch, R; Kubota, T; Tashiro, K; Vithana, EN; Micheal, S; Topouzis, F; Craig, JE; Dubina, M; Sundaresan, P; Stefansson, K Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nat Genet. 2017; 49(7):993-1004 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Borlee, GI; Plumley, BA; Martin, KH; Somprasong, N; Mangalea, MR; Islam, MN; Burtnick, MN; Brett, PJ; Steinmetz, I; AuCoin, DP; Belisle, JT; Crick, DC; Schweizer, HP; Borlee, BR Genome-scale analysis of the genes that contribute to Burkholderia pseudomallei biofilm formation identifies a crucial exopolysaccharide biosynthesis gene cluster.
PLoS Negl Trop Dis. 2017; 11(6):e0005689-e0005689 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Byrgazov, K; Kastner, R; Gorna, M; Hoermann, G; Koenig, M; Lucini, CB; Ulreich, R; Benesch, M; Strenger, V; Lackner, H; Schwinger, W; Sovinz, P; Haas, OA; van den Heuvel-Eibrink, M; Niemeyer, CM; Hantschel, O; Valent, P; Superti-Furga, G; Urban, C; Dworzak, MN; Lion, T NDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors.
Leukemia. 2017; 31(1):237-240 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Emmanouilidis, L; Schütz, U; Tripsianes, K; Madl, T; Radke, J; Rucktäschel, R; Wilmanns, M; Schliebs, W; Erdmann, R; Sattler, M Allosteric modulation of peroxisomal membrane protein recognition by farnesylation of the peroxisomal import receptor PEX19.
Nat Commun. 2017; 8(7):14635-14635 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Frischauf, I; Litviňuková, M; Schober, R; Zayats, V; Svobodová, B; Bonhenry, D; Lunz, V; Cappello, S; Tociu, L; Reha, D; Stallinger, A; Hochreiter, A; Pammer, T; Butorac, C; Muik, M; Groschner, K; Bogeski, I; Ettrich, RH; Romanin, C; Schindl, R Transmembrane helix connectivity in Orai1 controls two gates for calcium-dependent transcription.
Sci Signal. 2017; 10(507): [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Geuens, T; De Winter, V; Rajan, N; Achsel, T; Mateiu, L; Almeida-Souza, L; Asselbergh, B; Bouhy, D; Auer-Grumbach, M; Bagni, C; Timmerman, V Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Acta Neuropathol Commun. 2017; 5(1):5-5 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Gong, JY; Setchell, KDR; Zhao, J; Zhang, W; Wolfe, B; Lu, Y; Lackner, K; Knisely, AS; Wang, NL; Hao, CZ; Zhang, MH; Wang, JS Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
J Pediatr Gastroenterol Nutr. 2017; 65(5):561-568
Web of Science PubMed FullText FullText_MUG

 

González-Vela, MDC; Curiel-Olmo, S; Derdak, S; Beltran, S; Santibañez, M; Martínez, N; Castillo-Trujillo, A; Gut, M; Sánchez-Pacheco, R; Almaraz, C; Cereceda, L; Llombart, B; Agraz-Doblas, A; Revert-Arce, J; López Guerrero, JA; Mollejo, M; Marrón, PI; Ortiz-Romero, P; Fernandez-Cuesta, L; Varela, I; Gut, I; Cerroni, L; Piris, MÁ; Vaqué, JP Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas.
J Invest Dermatol. 2017; 137(1):197-206 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; Strohal, R; Ulz, P; Crumrine, D; Menon, GK; Blunder, S; Schmuth, M; Müller, T; Smith, H; Mills, K; Kroisel, P; Janecke, AR; Gissen, P Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
J Invest Dermatol. 2017; 137(4):845-854 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Hanley, J; Dhar, DK; Mazzacuva, F; Fiadeiro, R; Burden, JJ; Lyne, AM; Smith, H; Straatman-Iwanowska, A; Banushi, B; Virasami, A; Mills, K; Lemaigre, FP; Knisely, AS; Howe, S; Sebire, N; Waddington, SN; Paulusma, CC; Clayton, P; Gissen, P Vps33b is crucial for structural and functional hepatocyte polarity.
J Hepatol. 2017; 66(5):1001-1011 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Hladicz, A; Kittinger, C; Zarfel, G Tigecycline Resistant Klebsiella pneumoniae Isolated from Austrian River Water.
Int J Environ Res Public Health. 2017; 14(10): [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Ioacara, S; Flanagan, S; Fröhlich-Reiterer, E; Goland, R; Fica, S First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.
J Diabetes Investig. 2017; 8(5):716-719 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Jeryczynski, G; Thiele, J; Gisslinger, B; Wölfler, A; Schalling, M; Gleiß, A; Burgstaller, S; Buxhofer-Ausch, V; Sliwa, T; Schlögl, E; Geissler, K; Krauth, MT; Nader, A; Vesely, M; Simonitsch-Klupp, I; Müllauer, L; Beham-Schmid, C; Gisslinger, H Pre-fibrotic/early primary myelofibrosis vs. WHO-defined essential thrombocythemia: The impact of minor clinical diagnostic criteria on the outcome of the disease.
Am J Hematol. 2017; 92(9):885-891 [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.
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 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Khan, MA; Windpassinger, C; Ali, MZ; Zubair, M; Gul, H; Abbas, S; Khan, S; Badar, M; Mohammad, RM; Nawaz, Z Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
J Genet. 2017; 96(2):383-387 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Kostner, KM; Kostner, GM Lipoprotein (a): a historical appraisal.
J Lipid Res. 2017; 58(1):1-14 [OPEN ACCESS]
Web of Science PubMed PUBMED Central 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
Web of Science PubMed FullText FullText_MUG

 

Lax, SF Pathology of Endometrial Carcinoma.
Adv Exp Med Biol. 2017; 943(4):75-96
Web of Science PubMed FullText FullText_MUG

 

Li, JQ; Qiu, YL; Gong, JY; Dou, LM; Lu, Y; Knisely, AS; Zhang, MH; Luan, WS; Wang, JS Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
BMC Gastroenterol. 2017; 17(1):77-77 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Margonis, GA; Sasaki, K; Andreatos, N; Kim, Y; Merath, K; Wagner, D; Wilson, A; Buettner, S; Amini, N; Antoniou, E; Pawlik, TM KRAS Mutation Status Dictates Optimal Surgical Margin Width in Patients Undergoing Resection of Colorectal Liver Metastases.
Ann Surg Oncol. 2017; 24(1):264-271
Web of Science PubMed FullText FullText_MUG

 

Mehta, AK; Hua, K; Whipple, W; Nguyen, MT; Liu, CT; Haybaeck, J; Weidhaas, J; Settleman, J; Singh, A Regulation of autophagy, NF-κB signaling, and cell viability by miR-124 in KRAS mutant mesenchymal-like NSCLC cells.
Sci Signal. 2017; 10(496): [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Möller, I; Murali, R; Müller, H; Wiesner, T; Jackett, LA; Scholz, SL; Cosgarea, I; van de Nes, JA; Sucker, A; Hillen, U; Schilling, B; Paschen, A; Kutzner, H; Rütten, A; Böckers, M; Scolyer, RA; Schadendorf, D; Griewank, KG Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi.
Mod Pathol. 2017; 30(3):350-356 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Narchi, H; Alhefeiti, S; Althabahi, F; Hertecant, J; Knisely, AS; Souid, AK Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Saudi J Gastroenterol. 2017; 23(5):303-305 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Olschewski, A; Veale, EL; Nagy, BM; Nagaraj, C; Kwapiszewska, G; Antigny, F; Lambert, M; Humbert, M; Czirják, G; Enyedi, P; Mathie, A TASK-1 (KCNK3) channels in the lung: from cell biology to clinical implications.
Eur Respir J. 2017; 50(5): [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Perakis, S; Auer, M; Belic, J; Heitzer, E Advances in Circulating Tumor DNA Analysis.
Adv Clin Chem. 2017; 80(10):73-153
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
J Med Genet. 2017; 54(12):809-814 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Saraggi, D; Salmaso, R; Valentini, E; Munari, G; Vindigni, V; Rugge, M; Fassan, M; Cerroni, L Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver.
Pathol Res Pract. 2017; 213(7):860-862 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Schalli, M; Tysoe, C; Fischer, R; Pabst, BM; Thonhofer, M; Paschke, E; Rappitsch, T; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.
Carbohydr Res. 2017; 443-444(15):15-22
Web of Science PubMed FullText FullText_MUG

 

Schmidt, N; Grammer, T; Gouni-Berthold, I; Julius, U; Kassner, U; Klose, G; König, C; Laufs, U; Otte, B; Steinhagen-Thiessen, E; Wanner, C; März, W CaRe high - Cascade screening and registry for high cholesterol in Germany.
Atheroscler Suppl. 2017; 30(1):72-76
Web of Science PubMed FullText FullText_MUG

 

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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Szurian, K; Kashofer, K; Liegl-Atzwanger, B Role of Next-Generation Sequencing as a Diagnostic Tool for the Evaluation of Bone and Soft-Tissue Tumors.
Pathobiology. 2017; 84(6):323-338 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Taniguchi, K; Moroishi, T; de Jong, PR; Krawczyk, M; Grebbin, BM; Luo, H; Xu, RH; Golob-Schwarzl, N; Schweiger, C; Wang, K; Di Caro, G; Feng, Y; Fearon, ER; Raz, E; Kenner, L; Farin, HF; Guan, KL; Haybaeck, J; Datz, C; Zhang, K; Karin, M YAP-IL-6ST autoregulatory loop activated on APC loss controls colonic tumorigenesis.
Proc Natl Acad Sci U S A. 2017; 114(7):1643-1648 [OPEN ACCESS]
Web of Science PubMed PUBMED Central 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. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Widhalm, K; Benke, IM; Fritz, M; Geiger, H; Helk, O; Fritsch, M; Hoermann, G; Kostner, G Homozygous familial hypercholesterolemia: Summarized case reports.
Atherosclerosis. 2017; 257:86-89 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Windpassinger, C; Piard, J; Bonnard, C; Alfadhel, M; Lim, S; Bisteau, X; Blouin, S; Ali, NB; Ng, AYJ; Lu, H; Tohari, S; Talib, SZA; van Hul, N; Caldez, MJ; Van Maldergem, L; Yigit, G; Kayserili, H; Youssef, SA; Coppola, V; de Bruin, A; Tessarollo, L; Choi, H; Rupp, V; Roetzer, K; Roschger, P; Klaushofer, K; Altmüller, J; Roy, S; Venkatesh, B; Ganger, R; Grill, F; Ben Chehida, F; Wollnik, B; Altunoglu, U; Al Kaissi, A; Reversade, B; Kaldis, P CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet. 2017; 101(3): 391-403. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Weitere 50 Treffer anzeigen
© Med Uni Graz Impressum