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

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Publikationen

Suchbegriffe: GERM-LINE MUTATION - , . Treffer: 22

2017

Zeimet, AG; Mori, H; Petru, E; Polterauer, S; Reinthaller, A; Schauer, C; Scholl-Firon, T; Singer, C; Wimmer, K; Zschocke, J; Marth, C AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS).
ARCH GYNECOL OBSTET. 2017; 296(1): 123-127. [OPEN ACCESS]
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2016

Mangum, R; Varga, E; Boué, DR; Capper, D; Benesch, M; Leonard, J; Osorio, DS; Pierson, CR; Zumberge, N; Sahm, F; Schrimpf, D; Pfister, SM; Finlay, JL SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.
Childs Nerv Syst. 2016; 32(12):2439-2446 (- Case Report)
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2015

Guardoli, D; Argenziano, G; Ponti, G; Nasti, S; Zalaudek, I; Moscarella, E; Lallas, A; Piana, S; Specchio, F; Martinuzzi, C; Raucci, M; Pellacani, G; Longo, C A novel CYLD germline mutation in Brooke-Spiegler syndrome.
J Eur Acad Dermatol Venereol. 2015; 29(3):457-462 (- Case Report)
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Kargl, S; Meissl, M; Pumberger, W Early postnatal diagnosis of Costello syndrome.
Klin Padiatr. 2015; 227(1): 45-47.
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2014

Niklas, N; Pröll, J; Weinberger, J; Zopf, A; Wiesinger, K; Krismer, K; Bettelheim, P; Gabriel, C Qualifying high-throughput immune repertoire sequencing.
Cell Immunol. 2014; 288(1-2): 31-38.
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Rensing-Ehl, A; Völkl, S; Speckmann, C; Lorenz, MR; Ritter, J; Janda, A; Abinun, M; Pircher, H; Bengsch, B; Thimme, R; Fuchs, I; Ammann, S; Allgäuer, A; Kentouche, K; Cant, A; Hambleton, S; Bettoni da Cunha, C; Huetker, S; Kühnle, I; Pekrun, A; Seidel, MG; Hummel, M; Mackensen, A; Schwarz, K; Ehl, S Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.
Blood. 2014; 124(6):851-860 [OPEN ACCESS]
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Yeh, I; Mully, TW; Wiesner, T; Vemula, SS; Mirza, SA; Sparatta, AJ; McCalmont, TH; Bastian, BC; LeBoit, PE Ambiguous melanocytic tumors with loss of 3p21.
Am J Surg Pathol. 2014; 38(8): 1088-1095. [OPEN ACCESS]
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2013

Busam, KJ; Wanna, M; Wiesner, T Multiple epithelioid Spitz nevi or tumors with loss of BAP1 expression: a clue to a hereditary tumor syndrome.
JAMA Dermatol. 2013; 149(3): 335-339. (- Case Report) [OPEN ACCESS]
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2012

Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet. 2012; 49(7):422-428
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Wiesner, T; Fried, I; Ulz, P; Stacher, E; Popper, H; Murali, R; Kutzner, H; Lax, S; Smolle-Jüttner, F; Geigl, JB; Speicher, MR Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations.
J Clin Oncol. 2012; 30(32):e337-e340 (- Case Report) [OPEN ACCESS]
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2011

Gerger, A; Zhang, W; Yang, D; Bohanes, P; Ning, Y; Winder, T; LaBonte, MJ; Wilson, PM; Benhaim, L; Paez, D; El-Khoueiry, R; El-Khoueiry, A; Kahn, M; Lenz, HJ Common cancer stem cell gene variants predict colon cancer recurrence.
Clin Cancer Res. 2011; 17(21):6934-6943 [OPEN ACCESS]
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Tatton-Brown, K; Hanks, S; Ruark, E; Zachariou, A; Duarte, Sdel V; Ramsay, E; Snape, K; Murray, A; Perdeaux, ER; Seal, S; Loveday, C; Banka, S; Clericuzio, C; Flinter, F; Magee, A; McConnell, V; Patton, M; Raith, W; Rankin, J; Splitt, M; Strenger, V; Taylor, C; Wheeler, P; Temple, KI; Cole, T; Childhood Overgrowth Collaboration; Douglas, J; Rahman, N Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget. 2011; 2(12):1127-1133 [OPEN ACCESS]
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Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H; Bastian, BC; Speicher, MR Germline mutations in BAP1 predispose to melanocytic tumors.
Nat Genet. 2011; 43(10):1018-1021 [OPEN ACCESS]
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2010

Knechtel, G; Hofmann, G; Gerger, A; Renner, W; Langsenlehner, T; Szkandera, J; Wolf, G; Samonigg, H; Krippl, P; Langsenlehner, U Analysis of common germline polymorphisms as prognostic factors in patients with lymph node-positive breast cancer.
J Cancer Res Clin Oncol. 2010; 136(12):1813-1819
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Wolf, EM; Geigl, JB; Svrcek, M; Vieth, M; Langner, C Hereditary gastric cancer].
Pathologe. 2010; 31(6):423-429
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2009

Zebisch, A; Haller, M; Hiden, K; Goebel, T; Hoefler, G; Troppmair, J; Sill, H Loss of RAF kinase inhibitor protein is a somatic event in the pathogenesis of therapy-related acute myeloid leukemias with C-RAF germline mutations.
Leukemia. 2009; 23(6): 1049-1053. [OPEN ACCESS]
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2008

Hoffmann, KM; Moser, A; Lohse, P; Winkler, A; Binder, B; Sovinz, P; Lackner, H; Schwinger, W; Benesch, M; Urban, C Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.
Blood. 2008; 112(5): 1655-1657. [OPEN ACCESS]
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2007

Figl, A; Thirumaran, RK; Ugurel, S; Gast, A; Hemminki, K; Kumar, R; Schadendorf, D Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants.
Arch Dermatol. 2007; 143(4):495-499 (- Case Report) [OPEN ACCESS]
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Riedl, CC; Ponhold, L; Flory, D; Weber, M; Kroiss, R; Wagner, T; Fuchsjager, M; Helbich, TH Magnetic resonance imaging of the breast improves detection of invasive cancer, preinvasive cancer, and premalignant lesions during surveillance of women at high risk for breast cancer
CLIN CANCER RES. 2007; 13(20): 6144-6152. [OPEN ACCESS]
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2002

Maschek, W; Pichler, R; Rieger, R; Weinhäusel, A; Berg, J A new identified germline mutation of the RET proto-oncogene responsible for familial medullary thyroid carcinoma in co-existence with a hyperfunctioning autonomous nodule.
Clin Endocrinol (Oxf). 2002; 56(6):823-823 (- Case Report)
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2000

Buiting, K; Färber, C; Kroisel, P; Wagner, K; Brueton, L; Robertson, ME; Lich, C; Horsthemke, B Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Clin Genet. 2000; 58(4):284-290
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1998

Fargnoli, MC; Chimenti, S; Keller, G; Soyer, HP; Dal Pozzo, V; Höfler, H; Peris, K CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.
J Invest Dermatol. 1998; 111(6):1202-1206 [OPEN ACCESS]
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