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

Logo MUG-Forschungsportal

Publikationen

Suchbegriffe: MUTATION - GENETICS , . Treffer: 216

2018

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
Web of Science PubMed FullText FullText_MUG

 

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. [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Löscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Möslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV Pompe disease in Austria: clinical, genetic and epidemiological aspects.
J Neurol. 2018; 265(1):159-164 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

2017

Ammann, S; Lehmberg, K; Zur Stadt, U; Klemann, C; Bode, SFN; Speckmann, C; Janka, G; Wustrau, K; Rakhmanov, M; Fuchs, I; Hennies, HC; Ehl, S; HLH study of the GPOH Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
J Clin Immunol. 2017; 37(8):770-780
Web of Science PubMed FullText FullText_MUG

 

Chao, MP; Gentles, AJ; Chatterjee, S; Lan, F; Reinisch, A; Corces, MR; Xavy, S; Shen, J; Haag, D; Chanda, S; Sinha, R; Morganti, RM; Nishimura, T; Ameen, M; Wu, H; Wernig, M; Wu, JC; Majeti, R Human AML-iPSCs Reacquire Leukemic Properties after Differentiation and Model Clonal Variation of Disease.
Cell Stem Cell. 2017; 20(3): 329-344. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Hackenberg, A; Boltshauser, E; Gerth-Kahlert, C; Stahr, N; Azzarello-Burri, S; Plecko, B Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.
Neuropediatrics. 2017; 48(1): 57-58. (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Richtig, G; Hoeller, C; Kashofer, K; Aigelsreiter, A; Heinemann, A; Kwong, LN; Pichler, M; Richtig, E Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.
Br J Dermatol. 2017; 177(4):936-944
Web of Science PubMed FullText FullText_MUG

 

Richtig, G; Richtig, E; Kashofer, K; Koch, L; Winter, G; Hoefler, G; Pichler, M; Ehall, B; Grübler, MR; Heinemann, A; Aigelsreiter, A Testing and clinical implications for non-V600 BRAF mutations in metastatic NRASmt melanoma.
Br J Dermatol. 2017; 177(3):860-861
Web of Science PubMed FullText FullText_MUG

 

2016

Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Dernayka, L; Rauch, N; Jarboui, MA; Zebisch, A; Texier, Y; Horn, N; Romano, D; Gloeckner, CJ; Kriegsheim, Av; Ueffing, M; Kolch, W; Boldt, K Autophosphorylation on S614 inhibits the activity and the transforming potential of BRAF.
Cell Signal. 2016; 28(9):1432-1439
Web of Science PubMed FullText FullText_MUG

 

Endris, V; Stenzinger, A; Pfarr, N; Penzel, R; Möbs, M; Lenze, D; Darb-Esfahani, S; Hummel, M; Sabine-Merkelbach-Bruse, M; Jung, A; Lehmann, U; Kreipe, H; Kirchner, T; Büttner, R; Jochum, W; Höfler, G; Dietel, M; Weichert, W; Schirmacher, P NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
Virchows Arch. 2016; 468(6):697-705
Web of Science PubMed FullText FullText_MUG

 

Huemer, M; Mulder-Bleile, R; Burda, P; Froese, DS; Suormala, T; Zeev, BB; Chinnery, PF; Dionisi-Vici, C; Dobbelaere, D; Gökcay, G; Demirkol, M; Häberle, J; Lossos, A; Mengel, E; Morris, AA; Niezen-Koning, KE; Plecko, B; Parini, R; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Taddeucci, G; Trejo-Gabriel-Galán, JM; Trefz, F; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeman, J; Baumgartner, MR; Fowler, B Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis. 2016; 39(1): 115-124. [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Mlecnik, B; Bindea, G; Angell, HK; Maby, P; Angelova, M; Tougeron, D; Church, SE; Lafontaine, L; Fischer, M; Fredriksen, T; Sasso, M; Bilocq, AM; Kirilovsky, A; Obenauf, AC; Hamieh, M; Berger, A; Bruneval, P; Tuech, JJ; Sabourin, JC; Le Pessot, F; Mauillon, J; Rafii, A; Laurent-Puig, P; Speicher, MR; Trajanoski, Z; Michel, P; Sesboüe, R; Frebourg, T; Pagès, F; Valge-Archer, V; Latouche, JB; Galon, J Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability.
Immunity. 2016; 44(3):698-711 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Mlecnik, B; Bindea, G; Kirilovsky, A; Angell, HK; Obenauf, AC; Tosolini, M; Church, SE; Maby, P; Vasaturo, A; Angelova, M; Fredriksen, T; Mauger, S; Waldner, M; Berger, A; Speicher, MR; Pagès, F; Valge-Archer, V; Galon, J The tumor microenvironment and Immunoscore are critical determinants of dissemination to distant metastasis.
Sci Transl Med. 2016; 8(327):327ra26-327ra26
Web of Science PubMed FullText FullText_MUG

 

St John, EP; Simen, BB; Turenchalk, GS; Braverman, MS; Abbate, I; Aerssens, J; Bouchez, O; Gabriel, C; Izopet, J; Meixenberger, K; Di Giallonardo, F; Schlapbach, R; Paredes, R; Sakwa, J; Schmitz-Agheguian, GG; Thielen, A; Victor, M; Metzner, KJ; Däumer, MP; 454 HIV-1 Alpha Study Group A Follow-Up of the Multicenter Collaborative Study on HIV-1 Drug Resistance and Tropism Testing Using 454 Ultra Deep Pyrosequencing.
PLoS One. 2016; 11(1):e0146687-e0146687 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Tuller, F; Holzer, H; Schanda, K; Aboulenein-Djamshidian, F; Höftberger, R; Khalil, M; Seifert-Held, T; Leutmezer, F; Berger, T; Reindl, M Characterization of the binding pattern of human aquaporin-4 autoantibodies in patients with neuromyelitis optica spectrum disorders.
J Neuroinflammation. 2016; 13(1):176-176 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Weerakkody, RA; Vandrovcova, J; Kanonidou, C; Mueller, M; Gampawar, P; Ibrahim, Y; Norsworthy, P; Biggs, J; Abdullah, A; Ross, D; Black, HA; Ferguson, D; Cheshire, NJ; Kazkaz, H; Grahame, R; Ghali, N; Vandersteen, A; Pope, FM; Aitman, TJ Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genet Med. 2016; 18(11):1119-1127
Web of Science PubMed FullText FullText_MUG

 

Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016; 9(2):130-135 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

2015

Aoude, LG; Heitzer, E; Johansson, P; Gartside, M; Wadt, K; Pritchard, AL; Palmer, JM; Symmons, J; Gerdes, AM; Montgomery, GW; Martin, NG; Tomlinson, I; Kearsey, S; Hayward, NK POLE mutations in families predisposed to cutaneous melanoma.
Fam Cancer. 2015; 14(4):621-628
Web of Science PubMed FullText FullText_MUG

 

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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Kaczirek, K; Ciuleanu, TE; Vrbanec, D; Marton, E; Messinger, D; Liegl-Atzwanger, B; Wrba, F; Knittelfelder, R; Lindner, E; Zielinski, CC; Streubel, B; Brodowicz, T FOLFOX4 Plus Cetuximab for Patients With Previously Untreated Metastatic Colorectal Cancer According to Tumor RAS and BRAF Mutation Status: Updated Analysis of the CECOG/CORE 1.2.002 Study.
Clin Colorectal Cancer. 2015; 14(2):91-98
Web of Science PubMed FullText FullText_MUG

 

Reinthaler, EM; Dejanovic, B; Lal, D; Semtner, M; Merkler, Y; Reinhold, A; Pittrich, DA; Hotzy, C; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Neophytou, B; Geldner, J; Haberlandt, E; Muhle, H; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Altmüller, J; Kawalia, A; Toliat, MR; EuroEPINOMICS Consortium; Nürnberg, P; Lerche, H; Nothnagel, M; Thiele, H; Sander, T; Meier, JC; Schwarz, G; Neubauer, BA; Zimprich, F Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015; 77(6):972-986
Web of Science PubMed FullText FullText_MUG

 

Roos, A; Weis, J; Korinthenberg, R; Fehrenbach, H; Häusler, M; Züchner, S; Mache, C; Hubmann, H; Auer-Grumbach, M; Senderek, J Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
J Peripher Nerv Syst. 2015; 20(1):52-59 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Zopf, A; Raim, R; Danzer, M; Niklas, N; Spilka, R; Pröll, J; Gabriel, C; Nechansky, A; Roucka, M Introduction of the hybcell-based compact sequencing technology and comparison to state-of-the-art methodologies for KRAS mutation detection.
Biotechniques. 2015; 58(3):126-134 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2014

Karimi, E; Karkhane, AA; Yakhchali, B; Shamsara, M; Aminzadeh, S; Torktaz, I; Hosseini, M; Safari, Z Study of the effect of F17A mutation on characteristics of Bacillus thermocatenulatus lipase expressed in Pichia pastoris using in silico and experimental methods.
Biotechnol Appl Biochem. 2014; 61(3): 264-273.
Web of Science PubMed FullText FullText_MUG

 

Lee, W; Teckie, S; Wiesner, T; Ran, L; Prieto Granada, CN; Lin, M; Zhu, S; Cao, Z; Liang, Y; Sboner, A; Tap, WD; Fletcher, JA; Huberman, KH; Qin, LX; Viale, A; Singer, S; Zheng, D; Berger, MF; Chen, Y; Antonescu, CR; Chi, P PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.
Nat Genet. 2014; 46(11): 1227-1232. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Löffler, T; Flunkert, S; Havas, D; Schweinzer, C; Uger, M; Windisch, M; Steyrer, E; Hutter-Paier, B Neuroinflammation and related neuropathologies in APPSL mice: further value of this in vivo model of Alzheimer's disease.
J Neuroinflammation. 2014; 11(7):84-84 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; Varadkar, SM; Zuberi, S; McWilliam, R; Stödberg, T; Plecko, B; Baumgartner, MR; Maier, O; Calvert, S; Riney, K; Wolf, NI; Livingston, JH; Bala, P; Morel, CF; Feillet, F; Raimondi, F; Del Giudice, E; Chong, WK; Pitt, M; Clayton, PT Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain. 2014; 137(Pt 5): 1350-1360. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Pircher, A; Manzl, C; Fiegl, M; Popper, H; Pirker, R; Hilbe, W Overcoming resistance to first generation EGFR TKIs with cetuximab in combination with chemotherapy in an EGFR mutated advanced stage NSCLC patient.
Lung Cancer. 2014; 83(3): 408-410. (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Rao, S; Tortola, L; Perlot, T; Wirnsberger, G; Novatchkova, M; Nitsch, R; Sykacek, P; Frank, L; Schramek, D; Komnenovic, V; Sigl, V; Aumayr, K; Schmauss, G; Fellner, N; Handschuh, S; Glösmann, M; Pasierbek, P; Schlederer, M; Resch, GP; Ma, Y; Yang, H; Popper, H; Kenner, L; Kroemer, G; Penninger, JM A dual role for autophagy in a murine model of lung cancer.
Nat Commun. 2014; 5(5):3056-3056 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Shah, MH; Bhat, V; Shetty, JS; Kumar, A Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Mol Vis. 2014; 20(4):790-796 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central

 

Thorwarth, A; Schnittert-Hübener, S; Schrumpf, P; Müller, I; Jyrch, S; Dame, C; Biebermann, H; Kleinau, G; Katchanov, J; Schuelke, M; Ebert, G; Steininger, A; Bönnemann, C; Brockmann, K; Christen, HJ; Crock, P; deZegher, F; Griese, M; Hewitt, J; Ivarsson, S; Hübner, C; Kapelari, K; Plecko, B; Rating, D; Stoeva, I; Ropers, HH; Grüters, A; Ullmann, R; Krude, H Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
J Med Genet. 2014; 51(6): 375-387. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Toelle, SP; Wille, D; Schmitt, B; Scheer, I; Thöny, B; Plecko, B Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.
Epileptic Disord. 2014; 16(1): 88-92. (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Vytrva, N; Stacher, E; Regitnig, P; Zinke-Cerwenka, W; Hojas, S; Hubmann, E; Porwit, A; Bjorkholm, M; Hoefler, G; Beham-Schmid, C Megakaryocytic morphology and clinical parameters in essential thrombocythemia, polycythemia vera, and primary myelofibrosis with and without JAK2 V617F.
Arch Pathol Lab Med. 2014; 138(9):1203-1209 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2013

Buxhofer-Ausch, V; Ausch, C; Zeillinger, R; Oberkanins, C; Dandachi, N; Reiner-Concin, A; Kriegshäuser, G Duplex reverse-hybridization assay for the simultaneous detection of KRAS/BRAF mutations in FFPE-extracted genomic DNA from colorectal cancer specimens.
Dis Markers. 2013; 34(3):171-177 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Erdmann, J; Stark, K; Esslinger, UB; Rumpf, PM; Koesling, D; de Wit, C; Kaiser, FJ; Braunholz, D; Medack, A; Fischer, M; Zimmermann, ME; Tennstedt, S; Graf, E; Eck, S; Aherrahrou, Z; Nahrstaedt, J; Willenborg, C; Bruse, P; Brænne, I; Nöthen, MM; Hofmann, P; Braund, PS; Mergia, E; Reinhard, W; Burgdorf, C; Schreiber, S; Balmforth, AJ; Hall, AS; Bertram, L; Steinhagen-Thiessen, E; Li, SC; März, W; Reilly, M; Kathiresan, S; McPherson, R; Walter, U; CARDIoGRAM; Ott, J; Samani, NJ; Strom, TM; Meitinger, T; Hengstenberg, C; Schunkert, H Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Nature. 2013; 504(7480):432-436
Web of Science PubMed FullText FullText_MUG

 

Flunkert, S; Hierzer, M; Löffler, T; Rabl, R; Neddens, J; Duller, S; Schofield, EL; Ward, MA; Posch, M; Jungwirth, H; Windisch, M; Hutter-Paier, B Elevated levels of soluble total and hyperphosphorylated tau result in early behavioral deficits and distinct changes in brain pathology in a new tau transgenic mouse model.
Neurodegener Dis. 2013; 11(4):194-205
Web of Science PubMed FullText FullText_MUG

 

Kasperaviciute, D; Catarino, CB; Matarin, M; Leu, C; Novy, J; Tostevin, A; Leal, B; Hessel, EV; Hallmann, K; Hildebrand, MS; Dahl, HH; Ryten, M; Trabzuni, D; Ramasamy, A; Alhusaini, S; Doherty, CP; Dorn, T; Hansen, J; Krämer, G; Steinhoff, BJ; Zumsteg, D; Duncan, S; Kälviäinen, RK; Eriksson, KJ; Kantanen, AM; Pandolfo, M; Gruber-Sedlmayr, U; Schlachter, K; Reinthaler, EM; Stogmann, E; Zimprich, F; Théâtre, E; Smith, C; O'Brien, TJ; Meng Tan, K; Petrovski, S; Robbiano, A; Paravidino, R; Zara, F; Striano, P; Sperling, MR; Buono, RJ; Hakonarson, H; Chaves, J; Costa, PP; Silva, BM; da Silva, AM; de Graan, PN; Koeleman, BP; Becker, A; Schoch, S; von Lehe, M; Reif, PS; Rosenow, F; Becker, F; Weber, Y; Lerche, H; Rössler, K; Buchfelder, M; Hamer, HM; Kobow, K; Coras, R; Blumcke, I; Scheffer, IE; Berkovic, SF; Weale, ME; UK Brain Expression Consortium; Delanty, N; Depondt, C; Cavalleri, GL; Kunz, WS; Sisodiya, SM Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain. 2013; 136(Pt 10):3140-3150 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Richtig, E; Schrama, D; Ugurel, S; Fried, I; Niederkorn, A; Massone, C; Becker, JC BRAF mutation analysis of only one single metastatic lesion can restrict the treatment of melanoma - a case report.
Br J Dermatol. 2013; 168(2):428-430 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

2012

Fried, I; Bodner, C; Pichler, MM; Lind, K; Beham-Schmid, C; Quehenberger, F; Sperr, WR; Linkesch, W; Sill, H; Wölfler, A Frequency, onset and clinical impact of somatic DNMT3A mutations in therapy-related and secondary acute myeloid leukemia.
Haematologica. 2012; 97(2):246-250 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Fried, I; Wölfler, A; Quehenberger, F; Hoefler, G; Sill, H; Zebisch, A Mutations inDNMT3A and loss of RKIP are independent events in acute monocytic leukemia.
Haematologica. 2012; 97(12):1936-1937 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Gianakopoulos, PJ; Zhang, Y; Pencea, N; Orlic-Milacic, M; Mittal, K; Windpassinger, C; White, SJ; Kroisel, PM; Chow, EW; Saunders, CJ; Minassian, BA; Vincent, JB Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(2): 210-216.
Web of Science PubMed FullText FullText_MUG

 

Hafner, C; Houben, R; Baeurle, A; Ritter, C; Schrama, D; Landthaler, M; Becker, JC Activation of the PI3K/AKT pathway in Merkel cell carcinoma.
PLoS One. 2012; 7(2):e31255-e31255 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Huppke, P; Brendel, C; Kalscheuer, V; Korenke, GC; Marquardt, I; Freisinger, P; Christodoulou, J; Hillebrand, M; Pitelet, G; Wilson, C; Gruber-Sedlmayr, U; Ullmann, R; Haas, S; Elpeleg, O; Nürnberg, G; Nürnberg, P; Dad, S; Mller, LB; Kaler, SG; Gärtner, J Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
AM J HUM GENET. 2012; 90(1): 61-68. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Leonardis, L; Auer-Grumbach, M; Papić, L; Zidar, J The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
Eur J Neurol. 2012; 19(7):992-998
Web of Science PubMed FullText FullText_MUG

 

Schwetz, V; Uhrig, S; Spuller, E; Deutschmann, A; Högenauer, C Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
Eur J Gastroenterol Hepatol. 2012; 24(8):988-994
Web of Science PubMed FullText FullText_MUG

 

2011

Fong, CY; Rolfs, A; Schwarzbraun, T; Klein, C; O'Callaghan, FJ Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Eur J Paediatr Neurol. 2011; 15(3):271-275 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Houben, R; Hesbacher, S; Schmid, CP; Kauczok, CS; Flohr, U; Haferkamp, S; Müller, CS; Schrama, D; Wischhusen, J; Becker, JC High-level expression of wild-type p53 in melanoma cells is frequently associated with inactivity in p53 reporter gene assays.
PLoS One. 2011; 6(7):e22096-e22096 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Hurst, JA; Jenkins, D; Vasudevan, PC; Kirchhoff, M; Skovby, F; Rieubland, C; Gallati, S; Rittinger, O; Kroisel, PM; Johnson, D; Biesecker, LG; Wilkie, AO Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Eur J Hum Genet. 2011; 19(7): 757-762. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BB; Esko, T; Fernandez, BA; Fernández-Aranda, F; Fernández-Real, JM; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Männik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Villatoro Gomez, S; Walha, F; Wu, BL; Yu, Y; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, JS; Elliott, P; Faas, BH; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, NV; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, FJ; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AI; Beckmann, JS; Froguel, P Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature. 2011; 478(7367):97-102 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Weitere 50 Treffer anzeigen
© Med Uni Graz Impressum