Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: COPY NUMBER VARIATIONS, . Treffer: 13
2023
Kashofer, K; Reich, O; Regauer, S
Acquisition of Genetic Aberrations During the Progression of High-Grade Intraepithelial Lesions/Micro-Invasive Squamous Cancers to Widely Invasive Cervical Squamous Cell Cancer.
Arch Pathol Lab Med. 2023;
Doi: 10.5858/arpa.2022-0310-OA
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Webersinke, G; Burghofer, J; Malli, T; Rammer, M; Jahn, SW; Niendorf, A; Tavassoli, FA; Moinfar, F
TERT Promoter Mutation c.-124C>T Commonly Occurs in Low-Grade Fibromatosis-like Metaplastic Breast Carcinoma.
Arch Pathol Lab Med. 2023;
Doi: 10.5858/arpa.2022-0159-OA
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2022
Brcic, I; Scheipl, S; Bergovec, M; Leithner, A; Szkandera, J; Sotlar, K; Suda, A; Smolle, MA; Kraus, T; Rosenberg, AE; Liegl-Atzwanger, B; Igrec, J
Implementation of Copy Number Variations-Based Diagnostics in Morphologically Challenging EWSR1/FUS::NFATC2 Neoplasms of the Bone and Soft Tissue.
Int J Mol Sci. 2022; 23(24):
Doi: 10.3390/ijms232416196
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Kashofer, K; Regauer, S; Reich, O; Petru, E; Winter, E
Driver gene mutations in micro-invasive cervical squamous cancers have no prognostic significance.
Gynecol Oncol. 2022; 165(1):121-128
Doi: 10.1016/j.ygyno.2022.01.020
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Regauer, S; Reich, O; Kashofer, K
HPV-negative Squamous Cell Carcinomas of the Cervix With Special Focus on Intraepithelial Precursor Lesions.
AM J SURG PATHOL. 2022; 46(2): 147-158.
Doi: 10.1097/PAS.0000000000001778
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2016
Tsang-A-Sjoe, MW; Nagelkerke, SQ; Bultink, IE; Geissler, J; Tanck, MW; Tacke, CE; Ellis, JA; Zenz, W; Bijl, M; Berden, JH; de Leeuw, K; Derksen, RH; Kuijpers, TW; Voskuyl, AE
Fc-gamma receptor polymorphisms differentially influence susceptibility to systemic lupus erythematosus and lupus nephritis.
Rheumatology (Oxford). 2016; 55(5): 939-948.
Doi: 10.1093/rheumatology/kev433
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2015
Eisenberger, T; Decker, C; Hiersche, M; Hamann, RC; Decker, E; Neuber, S; Frank, V; Bolz, HJ; Fehrenbach, H; Pape, L; Toenshoff, B; Mache, C; Latta, K; Bergmann, C
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One. 2015; 10(2):e0116680-e0116680
Doi: 10.1371/journal.pone.0116680
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2014
Egger, G; Roetzer, KM; Noor, A; Lionel, AC; Mahmood, H; Schwarzbraun, T; Boright, O; Mikhailov, A; Marshall, CR; Windpassinger, C; Petek, E; Scherer, SW; Kaschnitz, W; Vincent, JB
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics. 2014; 15(2):117-127
Doi: 10.1007/s10048-014-0394-0
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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
Doi: 10.1093/bib/bbs086
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2009
Engelhardt, KR; McGhee, S; Winkler, S; Sassi, A; Woellner, C; Lopez-Herrera, G; Chen, A; Kim, HS; Lloret, MG; Schulze, I; Ehl, S; Thiel, J; Pfeifer, D; Veelken, H; Niehues, T; Siepermann, K; Weinspach, S; Reisli, I; Keles, S; Genel, F; Kutukculer, N; Kutuculer, N; Camcioğlu, Y; Somer, A; Karakoc-Aydiner, E; Barlan, I; Gennery, A; Metin, A; Degerliyurt, A; Pietrogrande, MC; Yeganeh, M; Baz, Z; Al-Tamemi, S; Klein, C; Puck, JM; Holland, SM; McCabe, ER; Grimbacher, B; Chatila, TA
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
J ALLERGY CLIN IMMUN. 2009; 124(6): 1289-302.e4.
Doi: 10.1016/j.jaci.2009.10.038
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Liu, ZY; Obenauf, AC; Speicher, MR; Kopan, R
Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS).
GENOME RES. 2009; 19(11): 2081-2089.
Doi: 10.1101/gr.093856.109
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Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, MC; Berger, W; Carrel, T; Steinmann, B; Mátyás, G
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Hum Mutat. 2009; 30(9):1355-1364
Doi: 10.1002/humu.21058
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1999
Klein, CA; Schmidt-Kittler, O; Schardt, JA; Pantel, K; Speicher, MR; Riethmüller, G
Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells.
Proc Natl Acad Sci U S A. 1999; 96(8):4494-4499
Doi: 10.1073/pnas.96.8.4494
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