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Search Items: CGH, . hits: 60

2018

Chen, S; El-Heliebi, A; Schmid, J; Kashofer, K; Czyż, ZT; Polzer, BM; Pantel, K; Kroneis, T; Sedlmayr, P Target Cell Pre-enrichment and Whole Genome Amplification for Single Cell Downstream Characterization.
J Vis Exp. 2018; (135): [OPEN ACCESS]
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Kozlowski, P; Burkhardt, T; Gembruch, U; Gonser, M; Kähler, C; Kagan, KO; von Kaisenberg, C; Klaritsch, P; Merz, E; Steiner, H; Tercanli, S; Vetter, K; Schramm, T DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures.
Ultraschall Med. 2018; [OPEN ACCESS]
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2017

Chen, S; El-Heliebi, A; Tauber, G; Langsenlehner, T; Pötscher, M; Kashofer, K; Czyż, ZT; Polzer, B; Riethdorf, S; Kuske, A; Leitinger, G; Pantel, K; Kroneis, T; Sedlmayr, P Catch and Release: rare cell analysis from a functionalised medical wire.
Sci Rep. 2017; 7(2):43424-43424 [OPEN ACCESS]
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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
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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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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 [OPEN ACCESS]
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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 [OPEN ACCESS]
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2015

El-Heliebi, A; Chen, S; Kroneis, T Heat-Induced Fragmentation and Adapter-Assisted Whole Genome Amplification Using GenomePlex® Single-Cell Whole Genome Amplification Kit (WGA4).
Methods Mol Biol. 2015; 1347(22):101-109
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El-Heliebi, A; Chen, S; Kroneis, T Using Multiplex PCR for Assessing the Quality of Whole Genome Amplified DNA.
Methods Mol Biol. 2015; 1347(22):119-128
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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
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Kessler, SM; Laggai, S; Barghash, A; Schultheiss, CS; Lederer, E; Artl, M; Helms, V; Haybaeck, J; Kiemer, AK IMP2/p62 induces genomic instability and an aggressive hepatocellular carcinoma phenotype.
Cell Death Dis. 2015; 6(1):e1894-e1894 [OPEN ACCESS]
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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638 (- Case Report) [OPEN ACCESS]
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Kroneis, T; Chen, S; El-Heliebi, A Low-Volume On-Chip Single-Cell Whole Genome Amplification for Multiple Subsequent Analyses.
Methods Mol Biol. 2015; 1347(22):245-261
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2014

Seidel, MG; Duerr, C; Woutsas, S; Schwerin-Nagel, A; Sadeghi, K; Neesen, J; Uhrig, S; Santos-Valente, E; Pickl, WF; Schwinger, W; Urban, C; Boztug, K; Förster-Waldl, E A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet. 2014; 51(4):254-263 [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

Balic, M; Schwarzenbacher, D; Stanzer, S; Heitzer, E; Auer, M; Geigl, JB; Cote, RJ; Datar, RH; Dandachi, N Genetic and epigenetic analysis of putative breast cancer stem cell models.
BMC Cancer. 2013; 13(7):358-358 [OPEN ACCESS]
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El-Heliebi, A; Kroneis, T; Zöhrer, E; Haybaeck, J; Fischereder, K; Kampel-Kettner, K; Zigeuner, R; Pock, H; Riedl, R; Stauber, R; Geigl, JB; Huppertz, B; Sedlmayr, P; Lackner, C Are morphological criteria sufficient for the identification of circulating tumor cells in renal cancer?
J Transl Med. 2013; 11(10):214-214 [OPEN ACCESS]
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Heitzer, E; Auer, M; Gasch, C; Pichler, M; Ulz, P; Hoffmann, EM; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Lackner, C; Höfler, G; Eisner, F; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing.
Cancer Res. 2013; 73(10):2965-2975 [OPEN ACCESS]
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Mentzel, T; Wiesner, T; Cerroni, L; Hantschke, M; Kutzner, H; Rütten, A; Häberle, M; Bisceglia, M; Chibon, F; Coindre, JM Malignant dermatofibroma: clinicopathological, immunohistochemical, and molecular analysis of seven cases.
Mod Pathol. 2013; 26(2):256-267 (- Case Report) [OPEN ACCESS]
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Wackernagel, W; Tarmann, L; Mayer, C; Langmann, G; Wedrich, A; Genetic analysis of uveal melanoma by array comparative genomic hybridization before and after radiotherapy.
SPEKTRUM AUGENHEILKD. 2013; 27(6): 286-291.
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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 [OPEN ACCESS]
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Kerl, K; Palmedo, G; Wiesner, T; Mentzel, T; Rütten, A; Schärer, L; Paredes, B; Hantschke, M; Kutzner, H A proposal for improving multicolor FISH sensitivity in the diagnosis of malignant melanoma using new combined criteria.
Am J Dermatopathol. 2012; 34(6):580-585
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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 [OPEN ACCESS]
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Mathiesen, RR; Fjelldal, R; Liestl, K; Due, EU; Geigl, JB; Riethdorf, S; Borgen, E; Rye, IH; Schneider, IJ; Obenauf, AC; Mauermann, O; Nilsen, G; Christian Lingjaerde, O; Brresen-Dale, AL; Pantel, K; Speicher, MR; Naume, B; Baumbusch, LO High-resolution analyses of copy number changes in disseminated tumor cells of patients with breast cancer.
Int J Cancer. 2012; 131(4):E405-E415 [OPEN ACCESS]
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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 (- Case Report) [OPEN ACCESS]
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Neumann, O; Kesselmeier, M; Geffers, R; Pellegrino, R; Radlwimmer, B; Hoffmann, K; Ehemann, V; Schemmer, P; Schirmacher, P; Lorenzo Bermejo, J; Longerich, T Methylome analysis and integrative profiling of human HCCs identify novel protumorigenic factors.
Hepatology. 2012; 56(5):1817-1827
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Ţuţulan-Cunită, AC; Papuc, SM; Arghir, A; Rötzer, KM; Deshpande, C; Lungeanu, A; Budişteanu, M 3p interstitial deletion: novel case report and review.
J Child Neurol. 2012; 27(8):1062-1066 (- Case Report)
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2011

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.
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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
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Zung, A; Petek, E; Ben-Zeev, B; Schwarzbraun, T; Ben-Yehoshua, SJ MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
Am J Med Genet A. 2011; 155A(10):2469-2472
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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
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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 [OPEN ACCESS]
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Jakubiczka, S; Schroder, C; Ullmann, R; Volleth, M; Ledig, S; Gilberg, E; Kroisel, P; Wieacker, P Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
SEX DEV. 2010; 4(3): 143-149. [OPEN ACCESS]
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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 (- Case Report)
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2009

Geigl, JB; Obenauf, AC; Waldispuehl-Geigl, J; Hoffmann, EM; Auer, M; Hörmann, M; Fischer, M; Trajanoski, Z; Schenk, MA; Baumbusch, LO; Speicher, MR Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays.
Nucleic Acids Res. 2009; 37(15): e105-e105. [OPEN ACCESS]
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Pfragner, R; Behmel, A; Höger, H; Beham, A; Ingolic, E; Stelzer, I; Svejda, B; Moser, VA; Obenauf, AC; Siegl, V; Haas, O; Niederle, B Establishment and characterization of three novel cell lines - P-STS, L-STS, H-STS - derived from a human metastatic midgut carcinoid.
ANTICANCER RES. 2009; 29(6): 1951-1961. [OPEN ACCESS]
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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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2008

Geigl, J; Speicher, M New methods of single-cell analysis in research and diagnostics
MED GENET. 2008; 20(4): 407-415.
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Schallmoser, K; Rohde, E; Reinisch, A; Bartmann, C; Thaler, D; Drexler, C; Obenauf, AC; Lanzer, G; Linkesch, W; Strunk, D Rapid large-scale expansion of functional mesenchymal stem cells from unmanipulated bone marrow without animal serum.
Tissue Eng Part C Methods. 2008; 14(3): 185-196.
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2007

Fiegler, H; Geigl, JB; Langer, S; Rigler, D; Porter, K; Unger, K; Carter, NP; Speicher, MR High resolution array-CGH analysis of single cells.
Nucleic Acids Res. 2007; 35(3): e15-e15. [OPEN ACCESS]
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Geigl, JB; Speicher, MR Single-cell isolation from cell suspensions and whole genome amplification from single cells to provide templates for CGH analysis.
Nat Protoc. 2007; 2(12): 3173-3184.
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Schick, B; Wemmert, S; Bechtel, U; Nicolai, P; Hofmann, T; Golabek, W; Urbschat, S Comprehensive genomic analysis identifies MDM2 and AURKA as novel amplified genes in juvenile angiofibromas.
Head Neck. 2007; 29(5):479-487
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2006

Blaukovitsch, M; Halbwedl, I; Kothmaier, H; Gogg-Kammerer, M; Popper, HH Sarcomatoid carcinomas of the lung--are these histogenetically heterogeneous tumors?
Virchows Arch. 2006; 449(4):455-461 [Oral Communication]
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Fauth, C; Gribble, SM; Porter, KM; Codina-Pascual, M; Ng, BL; Kraus, J; Uhrig, S; Leifheit, J; Haaf, T; Fiegler, H; Carter, NP; Speicher, MR Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Hum Genet. 2006; 119(1-2):145-153 (- Case Report)
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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 (- 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.
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Langer, S; Geigl, JB; Gangnus, R; Speicher, MR Sequential application of interphase-FISH and CGH to single cells.
Lab Invest. 2005; 85(4):582-592 [OPEN ACCESS]
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2004

Petzmann, S; Ullmann, R; Halbwedl, I; Popper, HH Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study.
VIRCHOWS ARCHIV. 2004; 445(2): 151-159.
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Stacher, E; Ullmann, R; Halbwedl, I; Gogg-Kammerer, M; Boccon-Gibod, L; Nicholson, AG; Sheppard, MN; Carvalho, L; Franca, MT; Macsweeney, F; Morresi-Hauf, A; Popper, HH Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: A genetic analysis.
HUM PATHOL. 2004; 35(5): 565-570.
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2003

Kraus, J; Pantel, K; Pinkel, D; Albertson, DG; Speicher, MR High-resolution genomic profiling of occult micrometastatic tumor cells.
Genes Chromosomes Cancer. 2003; 36(2):159-166
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