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

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Publikationen

Suchbegriffe: GERMLINE MUTATION, . Treffer: 39

2020

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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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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2018

Kindler, O; Quehenberger, F; Benesch, M; Seidel, MG The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.
Curr Opin Pediatr. 2018; 30(6):855-863
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2017

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]
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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

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
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Arbeithuber, B; Betancourt, AJ; Ebner, T; Tiemann-Boege, I Crossovers are associated with mutation and biased gene conversion at recombination hotspots.
Proc Natl Acad Sci U S A. 2015; 112(7):2109-2114 [OPEN ACCESS]
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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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Langner, C Serrated and non-serrated precursor lesions of colorectal cancer.
Dig Dis. 2015; 33(1):28-37
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Marth, C; Hubalek, M; Petru, E; Polterauer, S; Reinthaller, A; Schauer, C; Scholl-Firon, T; Singer, CF; Zschocke, J; Zeimet, AG AGO Austria recommendations for genetic testing of patients with ovarian cancer.
Wien Klin Wochenschr. 2015; 127(15-16):652-654 [OPEN ACCESS]
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Singer, CF; Tea, MK; Pristauz, G; Hubalek, M; Rappaport, C; Riedl, CC; Helbich, TH Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families.
Wien Klin Wochenschr. 2015; 127(23-24):981-986
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2014

Arzt, L; Quehenberger, F; Halbwedl, I; Mairinger, T; Popper, HH BAP1 protein is a progression factor in malignant pleural mesothelioma.
Pathol Oncol Res. 2014; 20(1):145-151
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Heidenreich, B; Nagore, E; Rachakonda, PS; Garcia-Casado, Z; Requena, C; Traves, V; Becker, J; Soufir, N; Hemminki, K; Kumar, R Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.
Nat Commun. 2014; 5(5):3401-3401 [OPEN ACCESS]
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Pabinger, S; Dander, A; Fischer, M; Snajder, R; Sperk, M; Efremova, M; Krabichler, B; Speicher, MR; Zschocke, J; Trajanoski, Z A survey of tools for variant analysis of next-generation genome sequencing data.
Brief Bioinform. 2014; 15(2):256-278 [OPEN ACCESS]
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Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014; 5(10):5191-5191 [OPEN ACCESS]
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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]
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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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Murali, R; Wiesner, T; Scolyer, RA Tumours associated with BAP1 mutations.
Pathology. 2013; 45(2):116-126
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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; Murali, R; Fried, I; Cerroni, L; Busam, K; Kutzner, H; Bastian, BC A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression.
Am J Surg Pathol. 2012; 36(6):818-830 [OPEN ACCESS]
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2011

Janeway, KA; Kim, SY; Lodish, M; Nosé, V; Rustin, P; Gaal, J; Dahia, PL; Liegl, B; Ball, ER; Raygada, M; Lai, AH; Kelly, L; Hornick, JL; NIH Pediatric and Wild-Type GIST Clinic; O'Sullivan, M; de Krijger, RR; Dinjens, WN; Demetri, GD; Antonescu, CR; Fletcher, JA; Helman, L; Stratakis, CA Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
Proc Natl Acad Sci U S A. 2011; 108(1): 314-318. [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

Guertl, B; Leuschner, I; Guelly, C; Ebner, B; Kronberger, C; Hoefler, G Is Predisposition for Nephroblastoma Linked to Polymorphisms of the WTX Gene?
Pathol Oncol Res. 2010; 16(2):189-191
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Timmermann, B; Kerick, M; Roehr, C; Fischer, A; Isau, M; Boerno, ST; Wunderlich, A; Barmeyer, C; Seemann, P; Koenig, J; Lappe, M; Kuss, AW; Garshasbi, M; Bertram, L; Trappe, K; Werber, M; Herrmann, BG; Zatloukal, K; Lehrach, H; Schweiger, MR Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis
PLOS ONE. 2010; 5(12): e15661-e15661. [OPEN ACCESS]
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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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Yao, L; Barontini, M; Niederle, B; Jech, M; Pfragner, R; Dahia, PL Mutations of the Metabolic Genes IDH1, IDH2, and SDHAF2 Are Not Major Determinants of the Pseudohypoxic Phenotype of Sporadic Pheochromocytomas and Paragangliomas.
J Clin Endocrinol Metab. 2010; 95(3): 1469-1472. [OPEN ACCESS]
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2009

Kraemer, S; Rothe, K; Pfaeffle, R; Fuehrer-Sakel, D; Till, H; Muensterer, OJ; Activating TSH-Receptor Mutation (Met453Thr) as a Cause of Adenomatous Non-Autoimmune Hyperthyroidism in a 3 Year-old Boy.
J Pediatr Endocrinol Metab. 2009; 22(3):269-274 (- Case Report)
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Ruttenstock, E; Puri, P A meta-analysis of clinical outcome in patients with total intestinal aganglionosis.
Pediatr Surg Int. 2009; 25(10): 833-839.
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Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. (- Case Report) [OPEN ACCESS]
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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

Ralmer, N; Hoefler, G; Hogenauer, C; Lackner, C; Steinke, V; Sengteller, M; Friedl, W; Aretz, S; Propping, P; Mangold, E; Walldorf, C Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
AM J MED GENET PART A. 2008; 146A(10): 1314-1319. (- Case Report)
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2007

Ali, A; Christie, PT; Grigorieva, IV; Harding, B; Van Esch, H; Ahmed, SF; Bitner-Glindzicz, M; Blind, E; Bloch, C; Christin, P; Clayton, P; Gecz, J; Gilbert-Dussardier, B; Guillen-Navarro, E; Hackett, A; Halac, I; Hendy, GN; Lalloo, F; Mache, CJ; Mughal, Z; Ong, AC; Rinat, C; Shaw, N; Smithson, SF; Tolmie, J; Weill, J; Nesbit, MA; Thakker, RV Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
HUM MOL GENET. 2007; 16(3): 265-275. [OPEN ACCESS]
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2005

Quehenberger, F; Vasen, HF; van Houwelingen, HC Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.
J Med Genet. 2005; 42(6):491-496 [OPEN ACCESS]
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2004

Hendriks, YM; Wagner, A; Morreau, H; Menko, F; Stormorken, A; Quehenberger, F; Sandkuijl, L; Møller, P; Genuardi, M; Van Houwelingen, H; Tops, C; Van Puijenbroek, M; Verkuijlen, P; Kenter, G; Van Mil, A; Meijers-Heijboer, H; Tan, GB; Breuning, MH; Fodde, R; Wijnen, JT; Bröcker-Vriends, AH; Vasen, H Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Gastroenterology. 2004; 127(1):17-25
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2003

Solari, V; Ennis, S; Yoneda, A; Wong, L; Messineo, A; Höllwarth, ME; Green, A; Puri, P Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
J PEDIAT SURG 2003 38: 497-501.
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2002

Sodha, N; Bullock, S; Taylor, R; Mitchell, G; Guertl-Lackner, B; Williams, RD; Bevan, S; Bishop, K; McGuire, S; Houlston, RS; Eeles, RA CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.
Br J Cancer. 2002; 87(12): 1445-1448. [OPEN ACCESS]
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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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1995

Eng, C; Mulligan, LM; Smith, DP; Healey, CS; Frilling, A; Raue, F; Neumann, HP; Pfragner, R; Behmel, A; Lorenzo, MJ Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma.
Genes Chromosomes Cancer. 1995; 12(3):209-212
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