Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: DNA COPY NUMBER VARIATIONS - , . Treffer: 18
2017
Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat. 2017; 38(3):275-278
Doi: 10.1002/humu.23162
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Tiran, V; Stanzer, S; Heitzer, E; Meilinger, M; Rossmann, C; Lax, S; Tsybrovskyy, O; Dandachi, N; Balic, M
Genetic profiling of putative breast cancer stem cells from malignant pleural effusions.
PLoS One. 2017; 12(4):e0175223-e0175223
Doi: 10.1371/journal.pone.0175223
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2016
D'Angelo, D; Lebon, S; Chen, Q; Martin-Brevet, S; Snyder, LG; Hippolyte, L; Hanson, E; Maillard, AM; Faucett, WA; Macé, A; Pain, A; Bernier, R; Chawner, SJ; David, A; Andrieux, J; Aylward, E; Baujat, G; Caldeira, I; Conus, P; Ferrari, C; Forzano, F; Gérard, M; Goin-Kochel, RP; Grant, E; Hunter, JV; Isidor, B; Jacquette, A; Jønch, AE; Keren, B; Lacombe, D; Le Caignec, C; Martin, CL; Männik, K; Metspalu, A; Mignot, C; Mukherjee, P; Owen, MJ; Passeggeri, M; Rooryck-Thambo, C; Rosenfeld, JA; Spence, SJ; Steinman, KJ; Tjernagel, J; Van Haelst, M; Shen, Y; Draganski, B; Sherr, EH; Ledbetter, DH; van den Bree, MB; Beckmann, JS; Spiro, JE; Reymond, A; Jacquemont, S; Chung, WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry. 2016; 73(1): 20-30.
Doi: 10.1001/jamapsychiatry.2015.2123
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2015
Addis, L; Ahn, JW; Dobson, R; Dixit, A; Ogilvie, CM; Pinto, D; Vaags, AK; Coon, H; Chaste, P; Wilson, S; Parr, JR; Andrieux, J; Lenne, B; Tumer, Z; Leuzzi, V; Aubell, K; Koillinen, H; Curran, S; Marshall, CR; Scherer, SW; Strug, LJ; Collier, DA; Pal, DK
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Hum Mutat. 2015; 36(9):842-850
Doi: 10.1002/humu.22816
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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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Flicker, K; Smolle, E; Haybaeck, J; Moinfar, F
Genomic characterization of endometrial stromal sarcomas with array comparative genomic hybridization.
Exp Mol Pathol. 2015; 98(3):367-374
Doi: 10.1016/j.yexmp.2015.03.009
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Geiger, O; Hatzl, S; Kashofer, K; Hoefler, G; Wölfler, A; Sill, H; Zebisch, A
Deletion of SPRY4 is a frequent event in secondary acute myeloid leukemia.
Ann Hematol. 2015; 94(11):1923-1924
Doi: 10.1007/s00277-015-2445-5
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2014
Busam, KJ; Kutzner, H; Cerroni, L; Wiesner, T
Clinical and pathologic findings of Spitz nevi and atypical Spitz tumors with ALK fusions.
Am J Surg Pathol. 2014; 38(7):925-933
Doi: 10.1097/PAS.0000000000000187
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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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Heidary, M; Auer, M; Ulz, P; Heitzer, E; Petru, E; Gasch, C; Riethdorf, S; Mauermann, O; Lafer, I; Pristauz, G; Lax, S; Pantel, K; Geigl, JB; Speicher, MR
The dynamic range of circulating tumor DNA in metastatic breast cancer.
Breast Cancer Res. 2014; 16(4):421-421
Doi: 10.1186/s13058-014-0421-y
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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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Reinthaler, EM; Lal, D; Lebon, S; Hildebrand, MS; Dahl, HH; Regan, BM; Feucht, M; Steinböck, H; Neophytou, B; Ronen, GM; Roche, L; Gruber-Sedlmayr, U; Geldner, J; Haberlandt, E; Hoffmann, P; Herms, S; Gieger, C; Waldenberger, M; Franke, A; Wittig, M; Schoch, S; Becker, AJ; Hahn, A; Männik, K; Toliat, MR; Winterer, G; 16p11.2 European Consortium; Lerche, H; Nürnberg, P; Mefford, H; Scheffer, IE; Berkovic, SF; Beckmann, JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander, T; Jacquemont, S; Reymond, A; Zimprich, F; Neubauer, BA
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet. 2014; 23(22):6069-6080
Doi: 10.1093/hmg/ddu306
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2012
Kerl, K; Kempf, W; Kamarashev, J; Spallone, G; Braun, R; Wiesner, T; French, LE; Dummer, R
Constitutional intraepidermal ascent of melanocytes: a potential pitfall in the diagnosis of melanocytic lesions.
Arch Dermatol. 2012; 148(2):235-238
Doi: 10.1001/archdermatol.2011.2026
(- Case Report)
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Nagel, B; Gruber-Sedlmayr, U; Uhrig, S; Stöllberger, C; Klopocki, E; Finsterer, J
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
BMC Med Genet. 2012; 13(8):60-60
Doi: 10.1186/1471-2350-13-60
(- Case Report)
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Rinner, B; Gallè, B; Trajanoski, S; Fischer, C; Hatz, M; Maierhofer, T; Michelitsch, G; Moinfar, F; Stelzer, I; Pfragner, R; Guelly, C
Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.
BMC Genomics. 2012; 13(6):594-594
Doi: 10.1186/1471-2164-13-594
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2011
Aleksic, K; Lackner, C; Geigl, JB; Schwarz, M; Auer, M; Ulz, P; Fischer, M; Trajanoski, Z; Otte, M; Speicher, MR
Evolution of genomic instability in diethylnitrosamine-induced hepatocarcinogenesis in mice.
Hepatology. 2011; 53(3):895-904
Doi: 10.1002/hep.24133
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Google Scholar
Presneau, N; Shalaby, A; Ye, H; Pillay, N; Halai, D; Idowu, B; Tirabosco, R; Whitwell, D; Jacques, TS; Kindblom, LG; Brüderlein, S; Möller, P; Leithner, A; Liegl, B; Amary, FM; Athanasou, NN; Hogendoorn, PC; Mertens, F; Szuhai, K; Flanagan, AM
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study.
J Pathol. 2011; 223(3): 327-335.
Doi: 10.1002/path.2816
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2010
Roetzer, KM; Schwarzbraun, T; Obenauf, AC; Hauser, E; Speicher, MR
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A. 2010; 152A(12):3173-3178
Doi: 10.1002/ajmg.a.33750
(- Case Report)
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