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Search Items: MUTATION, . hits: 1060

2020

Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; e1060-e1060. [OPEN ACCESS]
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Brcic, L; Fakler, F; Eidenhammer, S; Thueringer, A; Kashofer, K; Kulka, J; Popper, H Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation.
Virchows Arch. 2020;
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Brčić, I; Yamani, F; Inwards, CY; Sumathi, V; Dodd, L; Kreiger, PA; Sittampalam, K; Allred, TR; Kashofer, K; Liegl-Atzwanger, B; Kerr, DA; Nielsen, GP; Rosenberg, AE Giant Cell Tumor of Bone With Cartilage Matrix: A Clinicopathologic Study of 17 Cases.
Am J Surg Pathol. 2020; 44(6): 748-756.
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Caraffini, V; Geiger, O; Rosenberger, A; Hatzl, S; Perfler, B; Berg, JL; Lim, C; Strobl, H; Kashofer, K; Schauer, S; Beham-Schmid, C; Hoefler, G; Geissler, K; Quehenberger, F; Kolch, W; Athineos, D; Blyth, K; Wölfler, A; Sill, H; Zebisch, A Loss of RAF kinase inhibitor protein is involved in myelomonocytic differentiation and aggravates RAS-driven myeloid leukemogenesis.
Haematologica. 2020; 105(2):375-386 [OPEN ACCESS]
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Daga, S; Rosenberger, A; Kashofer, K; Heitzer, E; Quehenberger, F; Halbwedl, I; Graf, R; Krisper, N; Prietl, B; Höfler, G; Reinisch, A; Zebisch, A; Sill, H; Wölfler, A Sensitive and broadly applicable residual disease detection in acute myeloid leukemia using flow cytometry-based leukemic cell enrichment followed by mutational profiling.
Am J Hematol. 2020;
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Dutta, S; Pregartner, G; Rücker, FG; Heitzer, E; Zebisch, A; Bullinger, L; Berghold, A; Döhner, K; Sill, H Functional Classification of TP53 Mutations in Acute Myeloid Leukemia.
Cancers (Basel). 2020; 12(3): [OPEN ACCESS]
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Fakler, F; Aykutlu, U; Brcic, L; Eidenhammer, S; Thueringer, A; Kashofer, K; Kulka, J; Timens, W; Popper, H Atypical goblet cell hyperplasia occurs in CPAM 1, 2, and 3, and is a probable precursor lesion for childhood adenocarcinoma.
Virchows Arch. 2020; 476(6):843-854
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Frontzek, K; Carta, M; Losa, M; Epskamp, M; Meisl, G; Anane, A; Brandel, JP; Camenisch, U; Castilla, J; Haïk, S; Knowles, T; Lindner, E; Lutterotti, A; Minikel, EV; Roiter, I; Safar, JG; Sanchez-Valle, R; Žáková, D; Hornemann, S; Aguzzi, A; THAUTAN-MC Study Group Autoantibodies against the prion protein in individuals with PRNP mutations.
Neurology. 2020;
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Geissler, K; Jäger, E; Barna, A; Gurbisz, M; Graf, T; Graf, E; Nösslinger, T; Pfeilstöcker, M; Machherndl-Spandl, S; Stauder, R; Zebisch, A; Sill, H; Öhler, L; Kusec, R; Hörmann, G; Valent, P Molecular Basis and Clinical Application of Growth-Factor-Independent In Vitro Myeloid Colony Formation in Chronic Myelomonocytic Leukemia.
Int J Mol Sci. 2020; 21(17):
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Geissler, K; Jäger, E; Barna, A; Gurbisz, M; Graf, T; Graf, E; Nösslinger, T; Pfeilstöcker, M; Tüchler, H; Sliwa, T; Keil, F; Geissler, C; Heibl, S; Thaler, J; Machherndl-Spandl, S; Zach, O; Weltermann, A; Bettelheim, P; Stauder, R; Zebisch, A; Sill, H; Schwarzinger, I; Schneeweiss, B; Öhler, L; Ulsperger, E; Kusec, R; Germing, U; Sperr, WR; Knöbl, P; Jäger, U; Hörmann, G; Valent, P Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients.
Int J Mol Sci. 2020; 21(8): [OPEN ACCESS]
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Gerndt, S; Chen, CC; Chao, YK; Yuan, Y; Burgstaller, S; Scotto Rosato, A; Krogsaeter, E; Urban, N; Jacob, K; Nguyen, ONP; Miller, MT; Keller, M; Vollmar, AM; Gudermann, T; Zierler, S; Schredelseker, J; Schaefer, M; Biel, M; Malli, R; Wahl-Schott, C; Bracher, F; Patel, S; Grimm, C Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.
Elife. 2020; 9: [OPEN ACCESS]
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Hodgson, J; Swietlik, EM; Salmon, RM; Hadinnapola, C; Nikolic, I; Wharton, J; Guo, J; Liley, J; Haimel, M; Bleda, M; Southgate, L; Machado, RD; Martin, JM; Treacy, CM; Yates, K; Daugherty, LC; Shamardina, O; Whitehorn, D; Holden, S; 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; Lawrie, A; MacKenzie Ross, RV; Moledina, S; Montani, D; Olschewski, A; Olschewski, H; Ouwehand, WH; Peacock, AJ; Pepke-Zaba, J; Prokopenko, I; Rhodes, CJ; Scelsi, L; Seeger, W; Soubrier, F; Suntharalingam, J; Toshner, MR; Trembath, RC; Noordegraaf, AV; Wort, SJ; Wilkins, MR; Yu, PB; Li, W; Gräf, S; Upton, PD; Morrell, NW Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Am J Respir Crit Care Med. 2020; 201(5):575-585 [OPEN ACCESS]
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Karastaneva, A; Nebral, K; Schlagenhauf, A; Baschin, M; Palankar, R; Juch, H; Heitzer, E; Speicher, MR; Höfler, G; Grigorow, I; Urban, C; Benesch, M; Greinacher, A; Haas, OA; Seidel, MG Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
J Med Genet. 2020; 57(6):427-433
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Kessler, HH; Stelzl, E; Blažič, A; Mehta, SR; Benezeder, AS; Genger-Hackl, C; Santner, BI; Chaillon, A; Hoenigl, M Antiretroviral Treatment Simplification With 2-Drug Regimens: Impact of Transmitted Drug Resistance Mutations.
Open Forum Infect Dis. 2020; 7(1):ofz535-ofz535 [OPEN ACCESS]
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Koldobskiy, MA; Abante, J; Jenkinson, G; Pujadas, E; Tetens, A; Zhao, F; Tryggvadottir, R; Idrizi, A; Reinisch, A; Majeti, R; Goutsias, J; Feinberg, AP A Dysregulated DNA Methylation Landscape Linked to Gene Expression in MLL-Rearranged AML.
Epigenetics. 2020; 1-18.
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Krstic, J; Pieber, TR; Prokesch, A Stratifying nutritional restriction in cancer therapy: Next stop, personalized medicine.
Int Rev Cell Mol Biol. 2020; 354: 231-259.
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Lampignano, R; Neumann, MHD; Weber, S; Kloten, V; Herdean, A; Voss, T; Groelz, D; Babayan, A; Tibbesma, M; Schlumpberger, M; Chemi, F; Rothwell, DG; Wikman, H; Galizzi, J-P; Bergheim, IR; Russnes, H; Mussolin, B; Bonin, S; Voight, C; Musa, H; Pinzani, P; Lianidou, E; Brady, G; Speicher, MR; Pantel, K; Betsou, F, Schuuring, E; Kubista, M; Ammerlaan, W; Sprenger-Haussels, M; Schlange, T; Heitzer, E Multicenter Evaluation of Circulating Cell-Free DNA Extraction and Downstream Analyses for the Development of Standardized (Pre)analytical Work Flows
The Open Clinical Chemistry Journal. 2020; 66(1): 149-160.
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Mashbat, B; Bellos, E; Hodeib, S; Bidmos, F; Thwaites, RS; Lu, Y; Wright, VJ; Herberg, JA; Klobassa, DS; Zenz, W; Hansel, TT; Nadel, S; Langford, PR; Schlapbach, LJ; Li, MS; Redinbo, MR; Di, YP; Levin, M; Sancho-Shimizu, V A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Clin Infect Dis. 2020; 70(10):2045-2053 [OPEN ACCESS]
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Nguyen, CH; Grandits, AM; Purton, LE; Sill, H; Wieser, R All-trans retinoic acid in non-promyelocytic acute myeloid leukemia: driver lesion dependent effects on leukemic stem cells.
Cell Cycle. 2020; 1-16.
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Nicholson, AG; Sauter, JL; Nowak, AK; Kindler, HL; Gill, RR; Remy-Jardin, M; Armato, SG; Fernandez-Cuesta, L; Bueno, R; Alcala, N; Foll, M; Pass, H; Attanoos, R; Baas, P; Beasley, MB; Brcic, L; Butnor, KJ; Chirieac, LR; Churg, A; Courtiol, P; Dacic, S; De Perrot, M; Frauenfelder, T; Gibbs, A; Hirsch, FR; Hiroshima, K; Husain, A; Klebe, S; Lantuejoul, S; Moreira, A; Opitz, I; Perol, M; Roden, A; Roggli, V; Scherpereel, A; Tirode, F; Tazelaar, H; Travis, WD; Tsao, MS; van Schil, P; Vignaud, JM; Weynand, B; Lang-Lazdunski, L; Cree, I; Rusch, VW; Girard, N; Galateau-Salle, F EURACAN/IASLC Proposals for Updating the Histologic Classification of Pleural Mesothelioma: Towards a More Multidisciplinary Approach.
J Thorac Oncol. 2020; 15(1):29-49 [OPEN ACCESS]
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Passerini, L; Barzaghi, F; Curto, R; Sartirana, C; Barera, G; Tucci, F; Albarello, L; Mariani, A; Testoni, PA; Bazzigaluppi, E; Bosi, E; Lampasona, V; Neth, O; Zama, D; Hoenig, M; Schulz, A; Seidel, MG; Rabbone, I; Olek, S; Roncarolo, MG; Cicalese, MP; Aiuti, A; Bacchetta, R Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.
J Allergy Clin Immunol. 2020; 145(4):1262-1271
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Pirker, C; Bilecz, A; Grusch, M; Mohr, T; Heidenreich, B; Laszlo, V; Stockhammer, P; Lötsch-Gojo, D; Gojo, J; Gabler, L; Spiegl-Kreinecker, S; Dome, B; Steindl, A; Klikovits, T; Hoda, MA; Jakopovic, M; Samarzija, M; Mohorcic, K; Kern, I; Kiesel, B; Brcic, L; Oberndorfer, F; Müllauer, L; Klepetko, W; Schmidt, WM; Kumar, R; Hegedus, B; Berger, W Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup.
Clin Cancer Res. 2020; 26(14):3819-3830
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Popper, HH; Gruber-Mosenbacher, U; Pall, G; Mullauer, L; Hochmair, M; Krenbek, D; Brcic, L; Schmitz, K; Lamprecht, B; Eckmayr, J; Hilbe, W; Hutarew, G; Errhalt, P; Kolb, R; Pirker, R; Setinek, U; Webersinke, G; Absenger, G; Hernler, T; Rauter, M; Wasicky, R The 2020 update of the recommendations of the Austrian working group on lung pathology and oncology for the diagnostic workup of non-small cell lung cancer with focus on predictive biomarkers
MEMO-MAG EUR MED ONC. 2020;
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Roessner, A; Schoeder, V; Smolle, M; Haybäck, J [Osteoid-forming bone tumors : Morphology and current translational cell biology].
Pathologe. 2020; 41(2):123-133
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Roessner, A; Smolle, M; Haybäck, J [Giant cell tumor of bone : Morphology, molecular pathogenesis, and differential diagnosis].
Pathologe. 2020; 41(2):134-142
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Roessner, A; Smolle, M; Schoeder, V; Haybaeck, J [Cartilage tumors: morphology, genetics, and current aspects of target therapy].
Pathologe. 2020; 41(2):143-152
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Sallinger, M; Tiffner, A; Schmidt, T; Bonhenry, D; Waldherr, L; Frischauf, I; Lunz, V; Derler, I; Schober, R; Schindl, R Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes
INT J MOL SCI. 2020; 21(12): 4410 [OPEN ACCESS]
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Schwarze, UY; Dobsak, T; Gruber, R; Bookstein, FL Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans.
Anat Rec (Hoboken). 2020; 303(9):2295-2308
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Sill, H; Zebisch, A; Haase, D Acute Myeloid Leukemia and Myelodysplastic Syndromes with TP53 Aberrations - a Distinct Stem Cell Disorder.
Clin Cancer Res. 2020;
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Stallinger, A; Kretschmer, N; Kleinegger, F; Brvar, L; Liegl-Atzwanger, B; Prokesch, A; Durchschein, C; Bauer, R; Deutsch, A; Rinner, B β,β-Dimethylacrylshikonin Induces Apoptosis in Melanoma Cell Lines by NOXA Upregulation.
J Nat Prod. 2020; 83(2):305-315
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Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; Farmery, JHR; Simeoni, I; Rivers, E; Maimaris, J; Penkett, CJ; Stephens, J; Deevi, SVV; Sanchis-Juan, A; Gleadall, NS; Thomas, MJ; Sargur, RB; Gordins, P; Baxendale, HE; Brown, M; Tuijnenburg, P; Worth, A; Hanson, S; Linger, RJ; Buckland, MS; Rayner-Matthews, PJ; Gilmour, KC; Samarghitean, C; Seneviratne, SL; Sansom, DM; Lynch, AG; Megy, K; Ellinghaus, E; Ellinghaus, D; Jorgensen, SF; Karlsen, TH; Stirrups, KE; Cutler, AJ; Kumararatne, DS; Chandra, A; Edgar, JDM; Herwadkar, A; Cooper, N; Grigoriadou, S; Huissoon, AP; Goddard, S; Jolles, S; Schuetz, C; Boschann, F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons, PA; Hurles, ME; Savic, S; Burns, SO; Kuijpers, TW; Turro, E; Ouwehand, WH; Thrasher, AJ; Smith, KGC Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature. 2020; 583(7814): 90-95. [OPEN ACCESS]
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Timar, J; Kashofer, K Molecular epidemiology and diagnostics of KRAS mutations in human cancer
CANCER METAST REV. 2020;
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Unseld, M; Belic, J; Pierer, K; Zhou, Q; Moser, T; Bauer, R; Piringer, G; Gerger, A; Siebenhüner, A; Speicher, M; Heitzer, E; Prager, GW A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy (RELAIS) translational biomarker phase II pilot study.
Int J Cancer. 2020;
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Weber, S; Spiegl, B; Perakis, SO; Ulz, CM; Abuja, PM; Kashofer, K; Leest, PV; Azpurua, MA; Tamminga, M; Brudzewsky, D; Rothwell, DG; Mohan, S; Sartori, A; Lampignano, R; Konigshofer, Y; Sprenger-Haussels, M; Wikman, H; Bergheim, IR; Kloten, V; Schuuring, E; Speicher, MR; Heitzer, E Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling.
Cancers (Basel). 2020; 12(6): [OPEN ACCESS]
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Wimmer, K; Schamschula, E; Wernstedt, A; Traunfellner, P; Amberger, A; Zschocke, J; Kroisel, P; Chen, YJ; Callens, T; Messiaen, L AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3 ' splice site mutations outside the canonical AG-dinucleotides
HUM MUTAT. 2020; 41(6): 1145-1156. [OPEN ACCESS]
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2019

Absenger, G Resistance to epidermal growth factor receptor tyrosine kinase inhibitors in mutated non-small cell lung cancer: new avenues and strategies to overcome resistance
MEMO-MAG EUR MED ONC. 2019; 12(2): 128-135.
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Ahmed, J; Windpassinger, C; Salim, M; Wiener, M; Petek, E; Schaflinger, E; Taj, S; Hussain, S; Abbas, S; Abbas, M; Younis, I; Muhammad, N; Khan, S; Khan, MA Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
J Pak Med Assoc. 2019; 69(12): 1812-1816. [OPEN ACCESS]
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Arriga, R; Caratelli, S; Lanzilli, G; Ottaviani, A; Cenciarelli, C; Sconocchia, T; Spagnoli, GC; Iezzi, G; Roselli, M; Lauro, D; Coppola, A; Dotti, G; Ferrone, S; Sconocchia, G CD16-158-valine chimeric receptor T cells overcome the resistance of KRAS-mutated colorectal carcinoma cells to cetuximab.
INT J CANCER. 2019; 14(8):
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Bollerslev, J; Schalin-Jantti, C; Rejnmark, L; Siggelkow, H; Morreau, H; Thakker, RV; Sitges-Serra, A; Cetani, F; Marcocci, C; PARAT Workshop Group MANAGEMENT OF ENDOCRINE DISEASE: Unmet therapeutic, educational and scientific needs in parathyroid disorders.
EUR J ENDOCRINOL. 2019; 181(3): P1-P19. [OPEN ACCESS]
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Brcic, I; Kashofer, K; Skone, D; Liegl-Atzwanger, B KIT mutation in a naïve succinate dehydrogenase-deficient gastric GIST.
Genes Chromosomes Cancer. 2019; 58(11):798-803 [OPEN ACCESS]
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Brcic, L; Kuchler, C; Eidenhammer, S; Pabst, D; Quehenberger, F; Gazdar, AF; Popper, H Comparison of four DLL3 antibodies performance in high grade neuroendocrine lung tumor samples and cell cultures.
Diagn Pathol. 2019; 14(1): 47-47. [OPEN ACCESS]
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Carreño Gutiérrez, H; Colanesi, S; Cooper, B; Reichmann, F; Young, AMJ; Kelsh, RN; Norton, WHJ Endothelin neurotransmitter signalling controls zebrafish social behaviour.
Sci Rep. 2019; 9(1): 3040-3040. [OPEN ACCESS]
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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. [OPEN ACCESS]
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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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Ferenci, P; Stremmel, W; Członkowska, A; Szalay, F; Viveiros, A; Stättermayer, AF; Bruha, R; Houwen, R; Pop, TL; Stauber, R; Gschwantler, M; Pfeiffenberger, J; Yurdaydin, C; Aigner, E; Steindl-Munda, P; Dienes, HP; Zoller, H; Weiss, KH Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
Hepatology. 2019; 69(4):1464-1476 [OPEN ACCESS]
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Fotoulaki, M; Giza, S; Jirsa, M; Grammatikopoulos, T; Miquel, R; Hytiroglou, P; Tsitouridis, I; Knisely, AS Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations.
PEDIATRICS. 2019; 143(5):
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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 [OPEN ACCESS]
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Geissler, K; Jäger, E; Barna, A; Gurbisz, M; Marschon, R; Graf, T; Graf, E; Borjan, B; Jilch, R; Geissler, C; Hoermann, G; Esterbauer, H; Schwarzinger, I; Nösslinger, T; Pfeilstöcker, M; Tüchler, H; Reisner, R; Sliwa, T; Keil, F; Bettelheim, P; Machherndl-Spandl, S; Doleschal, B; Zach, O; Weltermann, A; Heibl, S; Thaler, J; Zebisch, A; Sill, H; Stauder, R; Webersinke, G; Petzer, A; Kusec, R; Ulsperger, E; Schneeweiss, B; Berger, J; Öhler, L; Germing, U; Sperr, WR; Knöbl, P; Jäger, U; Valent, P The Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) : A representative and useful real-life data source for further biomedical research.
Wien Klin Wochenschr. 2019; 131(17-18):410-418 [OPEN ACCESS]
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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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