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Petek Erwin |

Presentations at scientific and public conferences

Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, W; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
EUR J HUM GENET. 2024; 32: 408-408.-56th Annual Conference of the European-Society-of-Human-Genetics (ESHG); JUN 10-13, 2023; Glasgow, SCOTLAND.
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Schaflinger, E; Petek, E; Artl, M (Interdisziplinäre) Netzwerkbildung und dezentraler Wissenstransfer durch den Masterlehrgang Medizinische Genetik am Beispiel des Verbundes Hochsteiermark
Jahrestagung der österreichischen Gesellschaft für Humangenetik; SEPT 26-28, 2024; Katschberg. 2024. [Oral Communication]

Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, WF; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
European Human Genetics Conference 2023; JUN 10-13, 2023; Glasgow, Scotland, UK. 2023. [Poster]

Kaufmann, L; Pilic, J; Mayer, AL; Auinger, L; Blatterer, J; Graier, W; Al Kaissi, A; Petek, E; Wagner, K; Malli, R; Ahmad Khan, M; Windpassinger, C Functional analysis of a biallelic N-terminal frameshift mutation in ZMPSTE24 escaping the predicted lethal phenotype
21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik; SEP 29-30, 2022; Graz, AUSTRIA. 2022. [Oral Communication]
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Petek, P; Geipel, A; Faschinbauer, F; Elefteriades, M; Cetin, E; Klaritsch, P Vom Karyotyp zum Array zum Whole Exome Sequencing.
Arlberger Sonografie Akademie; MAR 8-13, 2020; Oberlech, AUSTRIA. 2020. [Oral Communication]

Khan, MA; Blatterer, J; Ali, MZ; Baufeld, L; Petek, E; Wagner, K; Ramadani-Muja, J; Malli, R; Muzammal, M; Windpassinger, C Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disability
EUR J HUM GENET. 2019; 27: 1463-1463. [Poster]
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Bengesser, S; Reininghaus, E; Platzer, M; Fellendorf, F; Birner, A; Tropper, B; Lackner, N; Kapfhammer, HP; Petek, E; Heilbronner, U; Schulze, T; Schnalzenberger, M; Fuchs, R; Waha, A; Waha, A EPIGENETIC ANALYSIS OF THE CLOCK GENE ARNTL IN BIPOLAR DISORDER
EUR NEUROPSYCHOPHARM. 2017; 27: S153-S154.-23rd Annual World Congress of Psychiatric Genetics (WCPG); OCT 16-20, 2015; Toronto, CANADA. [Poster]
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Bengesser, S; Lackner, N; Birner, A; Reininghaus, B; Heilbronner, U; Fuchs, R; Allard, N; Wallner-Liebmann, S; Rieger, A; Queissner, R; Filic, K; Fellendorf, F; Petek, E; Windpassinger, C; Schorkhuber, C; Gigler, C; Gatkowsky, K; Macheiner, T; Kainzbauer, N; Reininghaus, E Is the Molecular Clock Ticking Differently in Bipolar Disorder?
EUR PSYCHIAT. 2015; 30: Doi: 10.1016/S0924-9338(15)30441-7 [Poster]
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Bengesser, SA; Reininghaus, EZ; Platzer, M; Fellendorf, F; Birner, A; Tropper, B; Lackner, N; Kapfhammer, HP; Petek, E; Heilbronner, U; Schulze, TG; Schnalzenberger, M; Fuchs, R; Waha, A; Waha A Epigenetic Analysis of the Clock gene ARNTL in Bipolar Disorder
WCPG 2015; OCT 16-20, 2015; TORONTO. 2015. [Poster]
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Ebner, T; Shebl, O; Tritscher, K; Oppelt, P; Duba, HC; Maurer, M; Schappacher-Tilp, G; Petek, E; Mayer, RB Qualitative and quantitative grading of human blastocysts and its association with live-birth rate and neonatal outcome
HUM REPROD. . 2015; 30: 44-45.-31st Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE); JUN 14-17, 2015; Lisbon, PORTUGAL. [Oral Communication]
Web of Science

Schenk, M; Geigl, JB; Wenninger, J; Mächler, E; Windpassinger, C; Petek, P; Speicher, MR Neuigkeiten aus der Reproduktionsmedizin
Reproduktionsmedizin und Genetik ; June 16, 2015; F.R.E.D. GmbH Am Sendergrund 11 8143 Dobl, Austria. 2015. [Oral Communication]

Shebl, O; Oppelt, P; Sifferlinger, I; Habelsberger, A; Mayer, R; Petek, E; Ebner, T Ova Morphology and Quality in Eendometriosis Patients in the Context of an ART
GEBURTSH FRAUENHEILK. . 2015; 75(7): Doi: 10.1055/s-0035-1558389 [Oral Communication]
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Bengesser SA, Lackner N, Reininghaus EZ,Reininghaus B, Birner A, Fellendorf F, Platzer M, Filic K, Queissner R, Rieger A, Painold A, Petek E,Fuchs R, Windpassinger C, Kapfhammer HP, Wallner-Liebmann SJ Endoplasmatic Reticulum Stress and Bipolar Disorder
Proceedings des 22.World Congress of Psychiatric Genetics 2014. 2014; -World Congress of Psychiatric Genetics Copenhagen 2014; OCT 12-16; Copenhagen. [Poster]

Kroisel, P.M.1, R. Birnbacher2, K. Wagner1 , E. Petek1, S. Quasthoff3, M. R. Speicher1, C. Windpassinger1 Identification of potential causative gene loci for an autosomal recessive novel syndrome with brain anomalies, vision impairment and distinct facial dysmorphism.
Medizinische Genetik. 2014; Tagungsband: -25. Jahrestagung der Deutschen Gesellschaft für Humangenetik (GfH) gemeinsam mit der Österreichischen Gesellschaft für Humangenetik (ÖGH) und der Schweizerischen Gesellschaft für Medizinische Genetik (SGMG); MAR 19-21, 2014; Essen, GERMANY. [Poster]
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P.M. Kroisel1, V. Rupp1, R. Birnbacher2, C. Liechtenstein2, E. Petek1, M. R. Speicher1, C. Windpassinger1 In a consanguineous family with two patients showing a novel autosomal recessive inherited syndrome another patient with an unlinked autosomal nonsyndromic form of mental retardation was identified.
European Journalof Human Genetics . 2014; Volume 22 Supplement: 186--The European Human Genetics Conference 2014; May 31 - June 3, 2014; Milan, ITALY. [Poster]
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Rieger A, Lackner N, Weiss E, Birner A,Petek E, Windpassinger C,Heilbronner U, Kapfhammer HP, Platzer M, Fellendorf FT, Reininghaus EZ, Bengesser SA, Weiss E Genetics in bipolar disorder – associations with cognition and obesity.
Proceedings of the XXIInd World Congress of Psychiatric Genetics 2014. 2014; -XXIInd World Congress of Psychiatric Genetics; OCT 12-16; COPENHAGEN. [Poster]

Schenk, M; Wenninger, J; Petek, E; Bauer M Evaluation of the first five years of the postgraduate master course "Clinical Embryology"
Grazer Konferenz der Lehre; APRIL 3-5, 2014; Salzburg, AUSTRIA. 2014. [Poster]
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Kroisel, PM; Plecko, B; Gruber-Sedlmayr, U; Petek, E; Wagner, K; Speicher, MR A de novo 8/22 translocation with a 275 kb subtelomeric 8q microdeletion in a female patient is associated with multiple but stable white matter lesions and early onset of bilateral hearing loss.
Medizinische Genetik Abstractband. 2013; su: -24. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik; MAR 20-23. 2013; Dresden, GERMANY. [Poster]
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Windpassinger, C; Noor, A; Fröhlich-Reiterer, E; Gruber-Sedlmayr, U; Wagner, K; Petek, E; Vincent, JB; Kroisel, PM A new homozygous frame shift mutation of the leptin receptor- (LEPR)-gene identified by SNP array analysis is causing an early onset of a severe form of generalized obesity that is also associated with intellectual disability and general psychomotor retardation.
https://www.eshg.org/programme2013.0.html https://www.eshg.org/abstracts2013.0.html. 2013; -European Human Genetics Conference 2013; JUN 8-11, 2013; Paris, FRANCE. [Poster]
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Bengesser, S; Reininghaus, B; Kapfhammer, HP; Leopold, S; Birner, A; Lackner, N; Painold, A; Petek, E; Reininghaus, EZ Genetics of Bipolar Disorder
World Congress on Psychiatric Genetics, Confronting the Complexity of Brain and Behaviour; Oct 14-18, 2012; Hamburg, Germany. 2012. [Poster]
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Bengesser, S; Reininghaus, B; Kapfhammer, HP; Leopold, S; Birner, A; Lackner, N; Painold, A; Petek, E; Reininghaus, EZ Genetics of Bipolar Disorder
Abstractband. 2012; -World Congress on Psychiatric Genetics, Confronting the Complexity of Brain and Behaviour ; Oct 14-18, 2012; Hamburg, Germany. [Poster]

Birner, A; Bengesser, S; Petek, E; Reininghaus, B; Painold, AM; Lackner, N; Leopold, N; Hecht, H; Unterweger, R; Kapfhammer, HP; Reininghaus, EZ Genetics and epigenetics of bipolar disorder
Abstractband DGPPN 2012. 2012; -DGPPN Kongress; NOV 21-24, 2012; Berlin, Deutschland. [Poster]

Kroneis, T; Geigl, JB; El-Heliebi, A; Petek, E; Sedlmayr, P Combined molecular genetic and cytogenetic analysis at the single cell level
Reproduktive BioMedicine Online. 2012; 24(2):70-71.-11th International Conference on Preimplantation Genetic Diagnosis; MAY 17-19, 2012; Bregenz, AUSTRIA. [Poster]

Kroisel, PM; Rauter, L; Wagner, K; Schwarzbraun, T; Petek, E; Windpassinger, C; Mach, M; Rötzer, KM; Speicher, MR Clinical characterization of a patient with a de novo microdeletion 3p14.1-p13 of about 5.6 Mb and comparison with a previously reported case with similar chromosomal breakpoints
Medizinische Genetik2011; -Medizinische Genetik 2011, 22. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik GERMANY. ; MAR 16-18, 2011; Regensburg, GERMANY. [Poster]
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Reininghaus Bernd, Reininghaus Eva , Hecht Karen, Stebbegg Bernadette, Windpassinger Christian, Petek Erwin 50.GENETIC CHANGES ON BIPOLAR AFFECTIVE DISORDER- SPECIFICS OF GENETIC VARIANTS ON PATIENTS WITH BIPOLAR AFFECTIVE DISORDER AND THEIR RELATIVES IN COMPARISON WITH THE NORMAL POPULATION
Acta clinica croatica. 2011; -51st INPC Pula 2011; 15.-17.06.2011; Pula (Croatia). [Poster]

Sedlmayr, P; Kroneis, T; Petek, E Verification of microchimerism on the single cell level.
Jahrestagung der österreichischen Gesellschaft für Allergologie und Immunologie; SEPT 15-17, 2011; Graz, AUSTRIA. 2011. [Oral Communication]

Kroneis, T; Hartmann, M; Dohr, G; Petek, E; Sedlmayr, P Verification of the genetic identity of microchimeric cells
9. Österreichischer Histologentag; DEC 10-11, 2010; Vienna, AUSTRIA. 2010. [Oral Communication]

Sedlmayr, P; Kroneis, T; Petek, E Microchimerism: implications for immunology and prenatal diagnosis
AMER J REPROD IMMUNOL. 2010; 64: 6-6.-. 2nd International Conference on Reproductive Immunology; NOV 28 - DEC 2, 2010; Shanghai. CHINA. [Keynote lecture]
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Sedlmayr, P; Kroneis, T; Petek, E Microchimerism. Implications for immunology and prenatal diagnosis
Seminar; NOV 29, 2010; Wuxi, CHINA. 2010. [Oral Communication]

Sedlmayr, P; Petek, E; Kroneis, T Single cell analysis for non-invasive prenatal diagnosis.
Proceedings of the 1st Central-Eastern European Symposium on Free Nucleic Acids in Non-Invasive Prenatal Diagnosis. 2010; 22-28.-1st Central-Eastern European Symposium on Free Nucleic Acids in Non-Invasive Prenatal Diagnosis; MARCH 19, 2010; Budapest, HUNGARY. (ISBN: 978-963-9129-73-3 ) [Oral Communication]

Sedlmayr, P; Kroneis, T; Petek, E Automatic retrieval and verification of identity of fetal microchimeric cells
12th International Symposium for the Immunology of Reproduction; JUNE 25-27, 2009; Varna, BULGARIA. 2009. [Oral Communication]

Kroneis, T; Alunni-Fabbroni, M; Johannes, T; Kofler, K; Walcher, W; Dohr, G; Petek, E; Sedlmayr, P Merging of Sample Processing, Semi-automated Detection, and Molecular Genetic Analysis for Process-like Single-cell Analysis.
Abstractband des Workshops (2008 erhältlich)2008; -Safe PHD Student Workshop/Non Invasive Prenatal Diagnosis; Feb 24-25, 2008; Bologna, ITALY. [Oral Communication]

Kroneis, T; Alunni-Fabbroni, M; Petek, E; Dohr, G; Sedlmayr, P Nicht-invasive Pränataldiagnostik auf Basis einzelner Zellen.
24. Jahrestagung der Österreichischen Gesellschaft für Reproduktionsmedizin und Endokrinologie; OCT 9-11, 2008; Graz, AUSTRIA. 2008. [Oral Communication]

Kroneis, T; Geigl, JB; Alunni-Fabbroni, M; Hartmann, P; Johannes, T; Guetta, E; Abo-Gutstein, L; Coata, G; Petek, E; Sedlmayr, P Low-volume on-chip single cell analysis using whole genome amplification and DNA fingerprinting in non-invasive prenatal diagnosis and beyond
SAFE Final PhD Student Workshop ; Oct 25, 2008; Vienna, AUSTRIA. 2008. [Oral Communication]

Kroneis, T; Geigl, JB; Waldispühl-Geigl, J; Alunni-Fabbroni, M; Petek, E; Dohr, G; Sedlmayr P Towards contamination-free rare cell diagnosis.
SAFE Final General Assembly Meeting; MAY 29-30, 2008; Tarragona, SPAIN. 2008. [Oral Communication]

Kroneis, T; Johannes T, Alunni-Fabbroni, M; Kofler, K; Petek, E; Dohr, G; Sedlmayr P DNA fingerprinting analysis of single cells via automated detection, laser microdissection, and low-volume on-slide PCR.
Life Sciences 2008; SEP 22-24, 2008; Graz, AUSTRIA. 2008. [Poster]

Kroneis, Th; Geigl, J;Waldispühl-Geigl, J; Alunni-Fabbroni, M; Petek, E; Walcher, W; Dohr, G; Sedlmayr, P;, 2008 Contamination-free Analysis of Single Cells in Cell-based Non-invasive Prenatal Diagnosis
European Journal of Human Genetics, suppl. 2 2008; 16: -The European Human Genetics Conference 2008; May 31-3, 2008; Barcelona, SPAIN. [Oral Communication]

Quasthoff, S; Windpassinger C; Schoser B; Hochmeister S; Straub V; Lohberger B; Petek E; Schwarzbraun T; Wagner K, Löscher WN; Lochmüller H; Farra N; Ofner L; Mikhailov A; Vincent JB FHL1 Gene mutation associated myopathy: a novel class of inherited myopathies.
. 2008; 255(2): 33-33. [Oral Communication]
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Kroneis, T; Geigl, JB; Kofler, K; Petek, E; Walcher, W; Dohr, G; Sedlmayr P Nicht-invasive Pränataldiagnostik auf Basis fötaler Zellen.
8. Tagung: Zellbiologie, Histologie und Embryologie; OKT 5-6, 2007; Graz, AUSTRIA. 2007. [Oral Communication]

Kroepfl, Th; Plecko, B; Schwarzbraun, Th; Kroisl, P; Petek, E Mental retardation in a girl with a subtelomeric 20q deletion and loss of myelin transcription factor 1 (MYT 1)
Neuropediatrics. 37: 184--jahrestagung der Gesellschaft fuer Neuropaediatrie; 20.- 23. Sept. 2006; Mannheim, Deutschland. [Poster]

Kroneis, T; Kofler, K; Havlicek, T; Schmied, R; Johannes, T; Petek, E; Sedlmayr, P Single fetal cell based approach in non-invasive prenatal diagnostics
Am. J. Reprod. Immunol.. 56(1):47-48.-4th European Congress of Reproductive Immunology; July 5 9; Graz. [Poster]

Vincent, J; Marsha, C; Noor, A; Windpassinger, C; Horike, S; Choufani, S; Stachowiak, B; Skaug, J; Sloman, L; Kroisel, P; Petek, E; Roberts, W; Scherer, S Molecular analysis of 8 autism patients with cytogenetic abnormalities
AM J MED GENET PART B. 714-714. [Poster]
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Emberger, W; Sodia, S; Pfragner, R; Regauer, S; Reich, O; Zierler, H; Petek, E; Wagner, K Cytogenetic and molecular cytogenetic characterization of an Endometrial Stomal Sarkoma presenting a t(10;17)(q22;p13) translocation.
europ j human genet 2005; 13(1):208-208.-European Human Genetics Conference 2005; MAY 7-10, 2005; Prague, Czech Republic. [Poster]

Sodia, S; Emberger, W; Zierler, H; Kroisel, PM; Petek, E; Hojas, S; Wagner, K Cytogenetic and molecular cytogenetic characterisation of t(4;12) involving the ETV6 gene with a novel translocation partner on chromosome 4 in a case of acute myeloid leukaemia.
europ j human genet 2005; 13(1):209-209.-European Human Genetics Conference; MAY 7-10, 2005; Prague, Czech Republic. [Poster]

Emberger, W; Regauer, S; Windpassinger, C; Petek, E; Sodia, S; Reich, O; Pfragner, R; Zierler, H; Wagner, K Detection of T439I mutation of BRAF in sinunasal maligant melanoma.
European Human Genetics Conference; 2004. [Poster]

Sedlmayr, P; Hennerbichler, S; Schulz, E; Petek, E; Pertl, B; Wintersteiger, R; Kroisel, P; Dohr, G Non-invasive prenatal diagnostics using slide-based cytometry
CYTOMETRY PART A 2004 60A: 200-200.
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Emberger, W; Sodia, S; Pfragner, R; Regauer, S; Reich, O; Petek, E; Windpassinger, C; Zierler, H; Kroisel, PM Cytogenetic Characterization of Vulva-Melanomas.
Medizinische Genetik (medgen). 2003; 15. Jahrgang/ 2003(3):38-38.-Tagung der Deutschen Gesellschaft für Humangenetik (ÖGH); MAY 11 - 14, 2003; GERMANY. [Poster]

Emberger, W; Sodia, S; Pfragner, R; Regauer, S; Reich, O; Petek, E; Windpassinger, C, Zierler, H, Kroisel, PM; Wagner, K Cytogenetic Characterization of Vulva-Melanomas.
Medizinische Genetik. 2003; 15. Jahrgang(3):338-338.-14. Jahrestagung der Deutschen Gesellschaft für Humangenetik & mit Österreichische Gesellschaft für Humangenetik & Schweizerische Gesellschaft für Medizinische Genetik. 10. Workshop für Neurogenetik der Deutschen Gesellschaft für Neurogenetik e.V. 16. Tumorzytogenetrische Arbeitstagung; SEP 3, 2003; GERMANY. [Poster]

Schwarzbraun, T; Windpassinger, C; Ledinegg, M; Ofner, L; Kroisel, PM; Wagner, K; Petek, E Cloning, genomic organisation and expression pattern of a human tuberin-homology gene, the tuberin-like protein 1 gene (TULIP1), and its murine homologue.
Jahrestagung der Deutsche Gesellschaft für Humangenetik; Marburg, Germany. 2003. [Poster]

Schwarzbraun, T; Windpassinger, C; Ofner, L; Kroisel, PM; Wagner, K; Petek, E Molekulare Charakterisierung von 4 Deletionen bei Patienten mit Greig-Syndrom.
ÖGH-Jahrestagung ; Innsbruck, AUSTRIA. 2003. [Oral Communication]

Emberger, W; Olipitz, W; Sodia, S; Petek, E; Zierler, H; Kroisel, PM; Wagner, K Blast crisis in Philadelphia negative CML: Clinical findings and molecular cytogenetic characterization of a 47,XX,+i(11)(q10) cell line.
EUR J HUMAN GENET 2002 10: 105-106.
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Hennerbichler, S; Petek, E; Pertl, B; Dohr, G; Wintersteiger, R; Kroisel, P; Sedlmayr, P Applicability of laser scanning cytometry for detection and relocation of fetal erythroblasts in peripheral blood from pregnant women
CYTOMETRY 2002 SUPPL: 99-99.
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Kroisel, PM; Windpassinger, C; Zierler, H; Wagner, K; Petek, E Constitutional microdeletion del(22)(q12.1q12.3) including the NF2 gene region.
EUR J HUMAN GENET 2002 10: 133-133.
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Regauer, S; Behmel, A; Sale, S, Emberger, W, Petek, E; Pfragner, R Cell Culture of a sinonasal malignant melanoma (SM)
European Society of Pathology; May 19-21, 2002; Baveno, Italy. 2002. [Poster]

Sodia, S; Petek, E; Emberger, W; Zierler, H; Wagener, K; Kroisel, PM Partial monosomy 13q associated with anophthalmia due to a familial transolcation (9;13)(p24.3;q31.3)
europ j human genet 2001; 9(1):156-157.-10th International congress of Human Genetics; MAY 15-19, 2001; Vienna, Austria. [Poster]

Vincent, JB; Petek, E; Thevarkunnel, S; Cheung, J; Scherer, SW Analysis of the gene RAY1(FAM4A1/ST7)at a translocation breakpoint region on 7q31.3 in an autism patient reveals a complex multigene system.
AMER J HUM GENET 2001 69: 577-577.
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