Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: CHROMOSOME ABERRATIONS - , . Treffer: 76
2019
Mann, K; Petek, E; Pertl, B
Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.
Methods Mol Biol. 2019; 1885: 139-160.
Doi: 10.1007/978-1-4939-8889-1_10
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2017
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.
Doi: 10.1016/j.stem.2016.11.018
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Herold, T; Metzeler, KH; Vosberg, S; Hartmann, L; Jurinovic, V; Opatz, S; Konstandin, NP; Schneider, S; Zellmeier, E; Ksienzyk, B; Graf, A; Krebs, S; Blum, H; Cristina Sauerland, M; Büchner, T; Berdel, WE; Wörmann, BJ; Mansmann, U; Hiddemann, W; Bohlander, SK; Spiekermann, K; Greif, PA
Acute myeloid leukemia with del(9q) is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4.
Genes Chromosomes Cancer. 2017; 56(1): 75-86.
Doi: 10.1002/gcc.22418
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Holland, O; Kroneis, T; El-Heliebi, A; McDowell-Hook, M; Stone, P; Sedlmayr, P; Chamley, L
Detection of Fetal Sex, Aneuploidy and a Microdeletion from Single Placental Syncytial Nuclear Aggregates.
Fetal Diagn Ther. 2017; 41(1):32-40
Doi: 10.1159/000445112
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Mischinger, J; Guttenberg, LP; Hennenlotter, J; Gakis, G; Aufderklamm, S; Rausch, S; Neumann, E; Bedke, J; Kruck, S; Schwentner, C; Stenzl, A; Todenhöfer, T
Comparison of different concepts for interpretation of chromosomal aberrations in urothelial cells detected by fluorescence in situ hybridization.
J Cancer Res Clin Oncol. 2017; 143(4):677-685
Doi: 10.1007/s00432-016-2310-5
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Nieser, M; Henopp, T; Brix, J; Stoß, L; Sitek, B; Naboulsi, W; Anlauf, M; Schlitter, AM; Klöppel, G; Gress, T; Moll, R; Bartsch, DK; Heverhagen, AE; Knoefel, WT; Kaemmerer, D; Haybaeck, J; Fend, F; Sperveslage, J; Sipos, B
Loss of Chromosome 18 in Neuroendocrine Tumors of the Small Intestine: The Enigma Remains.
Neuroendocrinology. 2017; 104(3):302-312
Doi: 10.1159/000446917
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Redin, C; Brand, H; Collins, RL; Kammin, T; Mitchell, E; Hodge, JC; Hanscom, C; Pillalamarri, V; Seabra, CM; Abbott, MA; Abdul-Rahman, OA; Aberg, E; Adley, R; Alcaraz-Estrada, SL; Alkuraya, FS; An, Y; Anderson, MA; Antolik, C; Anyane-Yeboa, K; Atkin, JF; Bartell, T; Bernstein, JA; Beyer, E; Blumenthal, I; Bongers, EM; Brilstra, EH; Brown, CW; Brüggenwirth, HT; Callewaert, B; Chiang, C; Corning, K; Cox, H; Cuppen, E; Currall, BB; Cushing, T; David, D; Deardorff, MA; Dheedene, A; D'Hooghe, M; de Vries, BB; Earl, DL; Ferguson, HL; Fisher, H; FitzPatrick, DR; Gerrol, P; Giachino, D; Glessner, JT; Gliem, T; Grady, M; Graham, BH; Griffis, C; Gripp, KW; Gropman, AL; Hanson-Kahn, A; Harris, DJ; Hayden, MA; Hill, R; Hochstenbach, R; Hoffman, JD; Hopkin, RJ; Hubshman, MW; Innes, AM; Irons, M; Irving, M; Jacobsen, JC; Janssens, S; Jewett, T; Johnson, JP; Jongmans, MC; Kahler, SG; Koolen, DA; Korzelius, J; Kroisel, PM; Lacassie, Y; Lawless, W; Lemyre, E; Leppig, K; Levin, AV; Li, H; Li, H; Liao, EC; Lim, C; Lose, EJ; Lucente, D; Macera, MJ; Manavalan, P; Mandrile, G; Marcelis, CL; Margolin, L; Mason, T; Masser-Frye, D; McClellan, MW; Mendoza, CJ; Menten, B; Middelkamp, S; Mikami, LR; Moe, E; Mohammed, S; Mononen, T; Mortenson, ME; Moya, G; Nieuwint, AW; Ordulu, Z; Parkash, S; Pauker, SP; Pereira, S; Perrin, D; Phelan, K; Aguilar, RE; Poddighe, PJ; Pregno, G; Raskin, S; Reis, L; Rhead, W; Rita, D; Renkens, I; Roelens, F; Ruliera, J; Rump, P; Schilit, SL; Shaheen, R; Sparkes, R; Spiegel, E; Stevens, B; Stone, MR; Tagoe, J; Thakuria, JV; van Bon, BW; van de Kamp, J; van Der Burgt, I; van Essen, T; van Ravenswaaij-Arts, CM; van Roosmalen, MJ; Vergult, S; Volker-Touw, CM; Warburton, DP; Waterman, MJ; Wiley, S; Wilson, A; Yerena-de Vega, MC; Zori, RT; Levy, B; Brunner, HG; de Leeuw, N; Kloosterman, WP; Thorland, EC; Morton, CC; Gusella, JF; Talkowski, ME
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet. 2017; 49(1):36-45
Doi: 10.1038/ng.3720
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2016
Bettermann, K; Mehta, AK; Hofer, EM; Wohlrab, C; Golob-Schwarzl, N; Svendova, V; Schimek, MG; Stumptner, C; Thüringer, A; Speicher, MR; Lackner, C; Zatloukal, K; Denk, H; Haybaeck, J
Keratin 18-deficiency results in steatohepatitis and liver tumors in old mice: A model of steatohepatitis-associated liver carcinogenesis.
Oncotarget. 2016; 7(45):73309-73322
Doi: 10.18632/oncotarget.12325
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Bogen, D; Brunner, C; Walder, D; Ziegler, A; Abbasi, R; Ladenstein, RL; Noguera, R; Martinsson, T; Amann, G; Schilling, FH; Ussowicz, M; Benesch, M; Ambros, PF; Ambros, IM
The genetic tumor background is an important determinant for heterogeneous MYCN-amplified neuroblastoma.
Int J Cancer. 2016; 139(1):153-163
Doi: 10.1002/ijc.30050
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Gandolfi, G; Longo, C; Moscarella, E; Zalaudek, I; Sancisi, V; Raucci, M; Manzotti, G; Gugnoni, M; Piana, S; Argenziano, G; Ciarrocchi, A
The extent of whole-genome copy number alterations predicts aggressive features in primary melanomas.
Pigment Cell Melanoma Res. 2016; 29(2):163-175
Doi: 10.1111/pcmr.12436
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Liegl-Atzwanger, B; Heitzer, E; Flicker, K; Müller, S; Ulz, P; Saglam, O; Tavassoli, F; Devouassoux-Shisheboran, M; Geigl, J; Moinfar, F
Exploring chromosomal abnormalities and genetic changes in uterine smooth muscle tumors.
Mod Pathol. 2016; 29(10):1262-1277
Doi: 10.1038/modpathol.2016.107
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Nersesyan, A; Fenech, M; Bolognesi, C; Mišík, M; Setayesh, T; Wultsch, G; Bonassi, S; Thomas, P; Knasmüller, S
Use of the lymphocyte cytokinesis-block micronucleus assay in occupational biomonitoring of genome damage caused by in vivo exposure to chemical genotoxins: Past, present and future.
Mutat Res. 2016; 770(Pt A):1-11
Doi: 10.1016/j.mrrev.2016.05.003
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Schatorjé, E; van der Flier, M; Seppänen, M; Browning, M; Morsheimer, M; Henriet, S; Neves, JF; Vinh, DC; Alsina, L; Grumach, A; Soler-Palacin, P; Boyce, T; Celmeli, F; Goudouris, E; Hayman, G; Herriot, R; Förster-Waldl, E; Seidel, M; Simons, A; de Vries, E
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Orphanet J Rare Dis. 2016; 11(1):110-110
Doi: 10.1186/s13023-016-0492-1
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Ulz, P; Belic, J; Graf, R; Auer, M; Lafer, I; Fischereder, K; Webersinke, G; Pummer, K; Augustin, H; Pichler, M; Hoefler, G; Bauernhofer, T; Geigl, JB; Heitzer, E; Speicher, MR
Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer.
Nat Commun. 2016; 7(15):12008-12008
Doi: 10.1038/ncomms12008
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Vosberg, S; Herold, T; Hartmann, L; Neumann, M; Opatz, S; Metzeler, KH; Schneider, S; Graf, A; Krebs, S; Blum, H; Baldus, CD; Hiddemann, W; Spiekermann, K; Bohlander, SK; Mansmann, U; Greif, PA
Close correlation of copy number aberrations detected by next-generation sequencing with results from routine cytogenetics in acute myeloid leukemia.
Genes Chromosomes Cancer. 2016; 55(7): 553-567.
Doi: 10.1002/gcc.22359
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Wiesner, T; Kutzner, H; Cerroni, L; Mihm, MC; Busam, KJ; Murali, R
Genomic aberrations in spitzoid melanocytic tumours and their implications for diagnosis, prognosis and therapy.
Pathology. 2016; 48(2):113-131
Doi: 10.1016/j.pathol.2015.12.007
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2015
Schmid, M; Klaritsch, P; Arzt, W; Burkhardt, T; Duba, HC; Häusler, M; Hafner, E; Lang, U; Pertl, B; Speicher, M; Steiner, H; Tercanli, S; Merz, E; Heling, KS; Eiben, B
Cell-Free DNA Testing for Fetal Chromosomal Anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT).
Ultraschall Med. 2015; 36(5):507-510
Doi: 10.1055/s-0035-1553804
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Wiesner, T; Kutzner, H
Morphological and genetic aspects of Spitz tumors].
Pathologe. 2015; 36(1): 37-43.
Doi: 10.1007/s00292-014-1984-1
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2014
Best, KE; Addor, MC; Arriola, L; Balku, E; Barisic, I; Bianchi, F; Calzolari, E; Curran, R; Doray, B; Draper, E; Garne, E; Gatt, M; Haeusler, M; Bergman, J; Khoshnood, B; Klungsoyr, K; Martos, C; Materna-Kiryluk, A; Matias Dias, C; McDonnell, B; Mullaney, C; Nelen, V; O'Mahony, M; Queisser-Luft, A; Randrianaivo, H; Rissmann, A; Rounding, C; Sipek, A; Thompson, R; Tucker, D; Wellesley, D; Zymak-Zakutnia, N; Rankin, J
Hirschsprung's disease prevalence in Europe: a register based study.
Birth Defects Res A Clin Mol Teratol. 2014; 100(9):695-702
Doi: 10.1002/bdra.23269
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2013
Grinschgl, I; Mannweiler, S; Holzapfel-Bauer, M; Pferschy, U; Hoefler, G; Guertl, B
The role of morphology in combination with ploidy analysis in characterizing early gestational abortion.
Virchows Arch. 2013; 462(2):175-182
Doi: 10.1007/s00428-012-1350-8
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Kerl, K; Leo, S; Hesse, R; Hesse, B; Gabriela, P; Requena, L; Wiesner, T; Kutzner, H
Two-dimensional visualization of multicolor FISH-generated data as a helpful tool for the analysis and understanding of cytogenetic and chromosomal alterations in melanocytic lesions.
Am J Dermatopathol. 2013; 35(2):151-158
Doi: 10.1097/DAD.0b013e318265fd08
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2012
Flicker, K; Ulz, P; Höger, H; Zeitlhofer, P; Haas, OA; Behmel, A; Buchinger, W; Scheuba, C; Niederle, B; Pfragner, R; Speicher, MR
High-resolution analysis of alterations in medullary thyroid carcinoma genomes.
Int J Cancer. 2012; 131(2):E66-E73
Doi: 10.1002/ijc.26494
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Kutzner, H; Metzler, G; Argenyi, Z; Requena, L; Palmedo, G; Mentzel, T; Rütten, A; Hantschke, M; Paredes, BE; Schärer, L; Hesse, B; El-Shabrawi-Caelen, L; Shabrawi-Caelen, LE; Fried, I; Kerl, H; Lorenzo, C; Murali, R; Wiesner, T
Histological and genetic evidence for a variant of superficial spreading melanoma composed predominantly of large nests.
Mod Pathol. 2012; 25(6):838-845
Doi: 10.1038/modpathol.2012.35
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Spengler, S; Begemann, M; Ortiz Brüchle, N; Baudis, M; Denecke, B; Kroisel, PM; Oehl-Jaschkowitz, B; Schulze, B; Raabe-Meyer, G; Spaich, C; Blümel, P; Jauch, A; Moog, U; Zerres, K; Eggermann, T
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features.
J Pediatr. 2012; 161(5):933-942
Doi: 10.1016/j.jpeds.2012.04.045
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Wellesley, D; Dolk, H; Boyd, PA; Greenlees, R; Haeusler, M; Nelen, V; Garne, E; Khoshnood, B; Doray, B; Rissmann, A; Mullaney, C; Calzolari, E; Bakker, M; Salvador, J; Addor, MC; Draper, E; Rankin, J; Tucker, D
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
Eur J Hum Genet. 2012; 20(5): 521-526.
Doi: 10.1038/ejhg.2011.246
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2011
Alpha Scientists in Reproductive Medicine and ESHRE Special Interest Group of Embryology
The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting.
Hum Reprod. 2011; 26(6):1270-1283
Doi: 10.1093/humrep/der037
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Kroneis, T; Geigl, JB; El-Heliebi, A; Auer, M; Ulz, P; Schwarzbraun, T; Dohr, G; Sedlmayr, P
Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification.
Clin Chem. 2011; 57(7):1032-1041
Doi: 10.1373/clinchem.2011.162131
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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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Stacher, E; Boldt, V; Leibl, S; Halbwedl, I; Popper, HH; Ullmann, R; Tavassoli, FA; Moinfar, F
Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast.
Histopathology. 2011; 59(3):549-555
Doi: 10.1111/j.1365-2559.2011.03918.x
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Vergier, B; Prochazkova-Carlotti, M; de la Fouchardière, A; Cerroni, L; Massi, D; De Giorgi, V; Bailly, C; Wesselmann, U; Karlseladze, A; Avril, MF; Jouary, T; Merlio, JP
Fluorescence in situ hybridization, a diagnostic aid in ambiguous melanocytic tumors: European study of 113 cases.
Mod Pathol. 2011; 24(5):613-623
Doi: 10.1038/modpathol.2010.228
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2010
Boldt, V; Stacher, E; Halbwedl, I; Popper, H; Hultschig, C; Moinfar, F; Ullmann, R; Tavassoli, FA
Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade 3) within the sequence of breast carcinoma progression.
Genes Chromosomes Cancer. 2010; 49(5):463-470
Doi: 10.1002/gcc.20756
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Furthner, D; Biebl, A; Weinzettel, R; Schmitt, K; Lahr, G; Ebetsberger, G; Rittinger, O; Schulz, AS
Osteopetrosis due to homozygous chloride channel ClCN7 mutation mimicking metabolic disease with haematological and neurological impairment.
Klin Padiatr. 2010; 222(3):180-183
Doi: 10.1055/s-0029-1233492
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Gaiser, T; Kutzner, H; Palmedo, G; Siegelin, MD; Wiesner, T; Bruckner, T; Hartschuh, W; Enk, AH; Becker, MR
Classifying ambiguous melanocytic lesions with FISH and correlation with clinical long-term follow up.
Mod Pathol. 2010; 23(3):413-419
Doi: 10.1038/modpathol.2009.177
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Hartmann, S; Gesk, S; Scholtysik, R; Kreuz, M; Bug, S; Vater, I; Doring, C; Cogliatti, S; Parrens, M; Merlio, JP; Kwiecinska, A; Porwit, A; Piccaluga, PP; Pileri, S; Hoefler, G; Kuppers, R; Siebert, R; Hansmann, ML
High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus.
BRIT J HAEMATOL. 2010; 148(3): 402-412.
Doi: 10.1111/j.1365-2141.2009.07956.x
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Lemez, P; Attarbaschi, A; Béné, MC; Bertrand, Y; Castoldi, G; Forestier, E; Garand, R; Haas, OA; Kagialis-Girard, S; Ludwig, WD; Matutes, E; Mejstríková, E; Pages, MP; Pickl, W; Porwit, A; Orfao, A; Schabath, R; Starı, J; Strobl, H; Talmant, P; van't Veer, MB; Zemanová, Z; European Group for the Immunological Characterization of Leukemias (EGIL)
Childhood near-tetraploid acute lymphoblastic leukemia: an EGIL study on 36 cases.
Eur J Haematol. 2010; 85(4):300-308
Doi: 10.1111/j.1600-0609.2010.01493.x
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Wagner, W; Bork, S; Lepperdinger, G; Joussen, S; Ma, N; Strunk, D; Koch, C
How to track cellular aging of mesenchymal stromal cells?
AGING-US. 2010; 2(4): 224-230.
Doi: 10.18632/aging.100136
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Weber, A; Boger, R; Vick, B; Urbanik, T; Haybaeck, J; Zoller, S; Teufel, A; Krammer, PH; Opferman, JT; Galle, PR; Schuchmann, M; Heikenwalder, M; Schulze-Bergkamen, H
Hepatocyte-specific deletion of the antiapoptotic protein myeloid cell leukemia-1 triggers proliferation and hepatocarcinogenesis in mice.
Hepatology. 2010; 51(4):1226-1236
Doi: 10.1002/hep.23479
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Wiesner, T; Obenauf, AC; Cota, C; Fried, I; Speicher, MR; Cerroni, L
Alterations of the cell-cycle inhibitors p27(KIP1) and p16(INK4a) are frequent in blastic plasmacytoid dendritic cell neoplasms.
J Invest Dermatol. 2010; 130(4):1152-1157
Doi: 10.1038/jid.2009.369
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2009
Haybaeck, J; Zeller, N; Wolf, MJ; Weber, A; Wagner, U; Kurrer, MO; Bremer, J; Iezzi, G; Graf, R; Clavien, PA; Thimme, R; Blum, H; Nedospasov, SA; Zatloukal, K; Ramzan, M; Ciesek, S; Pietschmann, T; Marche, PN; Karin, M; Kopf, M; Browning, JL; Aguzzi, A; Heikenwalder, M
A lymphotoxin-driven pathway to hepatocellular carcinoma.
CANCER CELL. 2009; 16(4): 295-308.
Doi: 10.1016/j.ccr.2009.08.021
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Kramer, A; Gattenlohner, S; Neben, K
CUP syndrome: molecular pathogenesis and biology
Pathologe. 2009; 30(2):117-124
Doi: 10.1007/s00292-008-1114-z
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2008
Bink, K; Haralambieva, E; Kremer, M; Ott, G; Beham-Schmid, C; de Leval, L; Peh, SC; Laeng, HR; Jütting, U; Hutzler, P; Quintanilla-Martinez, L; Fend, F
Primary extramedullary plasmacytoma: similarities with and differences from multiple myeloma revealed by interphase cytogenetics.
Haematologica. 2008; 93(4): 623-626.
Doi: 10.3324/haematol.12005
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Boehm, BO; Möller, P; Högel, J; Winkelmann, BR; Renner, W; Rosinger, S; Seelhorst, U; Wellnitz, B; März, W; Melzner, J; Brüderlein, S
Lymphocytes of type 2 diabetic women carry a high load of stable chromosomal aberrations: a novel risk factor for disease-related early death.
Diabetes. 2008; 57(11): 2950-2957.
Doi: 10.2337/db08-0274
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Schule, R; Kremer, BPH; Kassubek, J; Auer-Grumbach, M; Kostic, V; Klopstock, T; Klimpe, S; Otto, S; Boesch, S; van de Warrenburg, BP; Schols, L
SPG10 is a rare cause of spastic paraplegia in European families.
J Neurol Neurosurg Psychiatry. 2008; 79(5):584-587
Doi: 10.1136/jnnp.2007.137596
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Stolte, T; Hosel, V; Mueller, J; Speicher, M
Modeling clonal expansion from M-FISH experiments.
J COMPUT BIOLOGY. 2008; 15(2): 221-230.
Doi: 10.1089/cmb.2007.0076
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2007
Rolle, U; Linse, B; Glasow, S; Sandig, KR; Richter, T; Till, H
Duodenal atresia in an infant with triple-X syndrome: A new associated malformation in 47,XXX
Birth Defects Res A Clin Mol Teratol. 2007; 79(8):612-613
Doi: 10.1002/bdra.20371
(- Case Report)
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Takata, M; Lin, J; Takayanagi, S; Suzuki, T; Ansai, S; Kimura, T; Cerroni, L; Saida, T
Genetic and epigenetic alterations in the differential diagnosis of malignant melanoma and spitzoid lesion.
Br J Dermatol. 2007; 156(6): 1287-1294.
Doi: 10.1111/j.1365-2133.2007.07924.x
(- Case Report)
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Ugurel, S
Targeted therapy of dermatofibrosarcoma with imatinib.
J Dtsch Dermatol Ges. 2007; 5(3):261-261
Doi: 10.1111/j.1610-0387.2007.07009.x
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Uhrig, S; Geigl, JB; Speicher, MR
Genetic counseling in multiple pregnancies
Gynakol Geburtshilfliche Rundsch. 2007; 47(1): 9-13.
Doi: 10.1159/000098120
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2006
Schwarzbraun, T; Ullmann, R; Schubert, M; Ledinegg, M; Ofner, L; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res. 2006; 115(1):84-89
Doi: 10.1159/000094804
(- Case Report)
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2005
Halbwedl, I; Ullmann, R; Kremser, ML; Man, YG; Isadi-Moud, N; Lax, S; Denk, H; Popper, HH; Tavassoli, FA; Moinfar, F
Chromosomal alterations in low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma as detected by comparative genomic hybridization.
GYNECOL ONCOL. 2005; 97: 582-587.
Doi: 10.1016/j.ygyno.2005.01.002
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