Medizinische Universität Graz - Research portal

Go directly to the nagivation.
Go directly to the content.

Navigation/Search

Researchers.
- Curriculum.
- Publications.
- Projects.
- Patent applications/Patents.
- Presentations.
- Advised theses.
Institutions.
Projects.
Publications.
Partners.
Sponsors.
Equipment.
Knowhow.
Fields of Research.

Windpassinger Christian |

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.
Web of Science

Gattermeyer-Kell, L; Windpassinger, C; Katschnig-Winter, P; Schwingenschuh, P Young man presenting with a paroxysmal gait disorder.
20. Jahrestagung der Österreichischen Gesellschaft für Neurologie; 22. - 24. März 2023; Bregenz. 2023. [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]

Geigl, JB; Gebhart, A; Wolf, P; Wolf, I; Schreiner, E; Wagner K; Heitzer, E; Speicher, MR; Windpassinger, C Familiäre Tumorhäufung, ein seltenes Syndrom?
Syndromtag 2022; Sept 30 -Oct 01, 2022; Graz, Austria. 2022. [Oral Communication]

Kaufmann, L; Blatterer, J; Mayer, AL; Auinger, L; Pilic, J; Schaflinger, E; Khan, AS; Tatrai, B; Abbasi, SW; Zeeshan Ali, M; Abbasi, AA; Graier, W; Al Kaissi, A; 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
Med Uni Graz: DOCTORAL DAY 2022; FEB 10, 2022; Graz, AUSTRIA. 2022. [Oral Communication]

Kaufmann, L; Blatterer, J; Schaflinger, E; Khan, AS; Auinger, L; Tatrai, B; Abbasi, SW; Ali, MZ; Abbasi, AA; Al Kaissi, A; Wagner, K; Khan, MA; Windpassinger, C An exceptional biallelic N-terminal frameshift mutation in ZMPSTE24 leads to non-lethal progeria due to utilization of a downstream alternative start codon
EUR J HUM GENET. 2022; 30(SUPPL 1):182-182. [Oral Communication]
Web of Science

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]
FullText

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]
Web of Science

Lohberger, B; Stuendl, N; Kaltengegger, H; Windpassinger, C; Donohue, N; Leithner, A; Bernhart, E Histone Deacetylase Inhibitors Vorinostat and Panobinostat Induce G1 Cell Cycle Arrest and Apoptosis in multidrug resistant Sarcoma Cell Lines.
Abstracts of 19th EFORT. 2018; -19th EFORT; MAY 30 - JUN 1, 2018; Barcelona, SPAIN. [Oral Communication]

Gruber, R; Rogerson, C; Windpassinger, C; Strohal, R; Schmuth, M; Kroisel, P; Janecke, AR; Gissen, P VPS33B mutations cause ARKID syndrome affecting Rab protein interaction, collagen modification and epidermal structure
J INVEST DERMATOL. .. 2017; 137(10):S223-S223.-47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR); SEP 27-30, 2017; Salzburg, AUSTRIA. Doi: 10.1016/j.jid.2017.07.174 [Poster]
Web of Science FullText FullText_MUG

Vincent, J; Harripaul, R; Santavy, L; NcNaughton, A; Mittal, K; Vasli, N; Mikhailov, A; Henry, C; Hudson, M; Windpassinger, C; Stavropoulos, J; Carter, M; Limprasert, P; Ayub, M; Liu, XD SCREENING FOR MUTATIONS IN NON-SYNDROMIC AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY GENES IN NON-CONSANGUINEOUS INTELLECTUAL DISABILITY AND AUTISM POPULATIONS
EUR NEUROPSYCHOPHARM. .. 2017; 27: S299-S299.-23rd Annual World Congress of Psychiatric Genetics (WCPG); OCT 16-20, 2015; Toronto, CANADA. [Oral Communication]
Web of Science

Kroisel, PM; Schaller, G; Kau, T; Birnbacher, R; Speicher, MR; Windpassinger, C; Wagner, K; Schwarzbraun, T Identification of the first causative missense mutation of the GPSM2-gene in a patient with Chudley-McCullough syndrome (CMS).
ASHG Annual meeting 2016. 2016; -ASHG Annual Meeting; OCT 18-22, 2016; Vancouver, CANADA. [Poster]
FullText

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]
Web of Science FullText FullText_MUG

Kroisel, PM; Speicher, MR; Windpassinger C Unusual form of congenital ichthyosiform erythroderma (CIE) in two siblings of an Austrian family. Attempts to unravel genetic basis of this disorder.
European Journal of Human Genetics. 2015; Volume 23, Supp 1: -The European Human Genetics Conference 2015; JUN 6-9, 2015; Glasgow , UK. [Poster]
FullText

Kroisel, PM; Wagner, K; Lindner, S; Gruber, H; Bergmann, C; Speicher, MR; Windpassinger, C Identification of a potential new candidate gene region for Bardet-Biedl-syndrome at chromosome 14 by homozygosity mapping in an affected offspring of a couple of Austrian extraction.
medizinische genetik 1 · 2015. 2015; -26. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik; APR 15-17, 2015; Graz, AUSTRIA. [Poster]
FullText

Lafer, I; Nagel, B; Köstenberger, M; Gamillscheg, A; Lax, S; Geigl, JB; Windpassinger, C; Speicher, MR; Schwarzbraun, T Molecular autopsies: should cardiovascular NGS-Panel testing be implemented in the workup of sudden unexplained death?
Medizinische Genetik. 2015; 27(1):79-109. 2015; -26. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik; APR 15-17, 2015; Graz, AUSTRIA. [Oral Communication]

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]

Verheyen, S; Kroisel, PM; Pfingstl, HM; Gruber-Sedlmayr, U; Sperl, M; Speicher, MR; Windpassinger, C Severe phenotype of metaphyseal dysplasia due to a novel homozygous frameshift mutation in the MMP13 gene.
European Journal of Human Genetics. Volume 23 Supplement 1.. 2015; -European Human Genetics Conference 2015; JUN 6-9, 2015; Glasgow, SCOTLAND. [Poster]

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]
FullText

Lafer, I; Gamillscheg, A; Pieske, BM; Speicher, MR; Windpassinger, C; Schwarzbraun, T Cardiovascular NGS-Panel testing: design and first experiences
European Journal of Human Genetics. 2014; -The European Human Genetics Conference 2014 ; MAI 31 - JUN 3, 2014; Mailand, Italien. [Poster]

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]
FullText

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]

Rupp VM, Khan MA, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
64th Annual Meeting of the American Society of Human Genetics. 2014; -ASHG 2014; OCT 18-22, 2014; San Diego. [Poster]

Schmid, J; Kaufmann, R; Grübler, MR; Gaksch, M; Verheyen, N; Stojakovic, T; Windpassinger, C; Pilz, S; Binder, JS; Quasthoff, S Cardiac troponin T correlates with creatine kinase in patients with hereditary myopathies.
Eur Heart J Acute Cardiovasc Care. 2014; 3(2):170-171.-ACCA Congress ; Oct 18-20, 2014; Geneva, Switzerland. [Poster]
FullText

Seidel, MG; Hirschmugl, T; Gamez-Diaz, L; Schwinger, W; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Grimbacher, B; Urban, C; Boztug, K. LONG-TERM CONTINUOUS REMISSION AFTER ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN ALPS/CVID OVERLAP SYNDROME DUE TO LIPOPOLYSACCHARIDE RESPONSIVE BEIGE-LIKE ANCHOR PROTEIN (LRBA) DEFICIENCY
Journal of Clinical Immunology. 2014; 32(2):139-515.-ESID Meeting 2014; Oct 29- Nov 01, 2014; Prague, Czech Republic. [Poster]

Seidel, MG; Hirschmugl, T; Schwinger, W; Gamez-Diaz, L; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Speicher, M; Grimbacher, B; Urban, C; Boztug, K Extended Phenotype and Allogeneic Hematopoietic Stem Cell Transplantation in Newly Identified Patients with Lipopolysaccharide Responsive Beige-like Anchor (LRBA) Deficiency
31st Annual Meeting of the API (Arbeitsgemeinschaft Pädiatrische Immunologie); May 9-11, 2014; Ittingen, Switzerland. 2014. [Oral Communication]

Seidel, MG; Hirschmugl, T; Schwinger, W; Gamez-Diaz, L; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Speicher, M; Grimbacher, B; Urban, C; Boztug, K Long-Term Continuous Remission After Allogeneic Hematopoietic Stem Cell Transplantation in ALPS/CVID Overlap Syndrome Due to Lipopolysaccharide Responsive Beige-Like Anchor Protein (LRBA) Deficiency
J CLIN IMMUNOL. 2014; 34: S226-S227.-16th Biennial Meeting of the European-Society-for-Immunodeficiencies; OCT 29-NOV 01, 2014; Prague, CZECH REPUBLIC. [Oral Communication]
Web of Science

Windpassinger, C 24 Chromosomen- Analyse - was ist machbar?
27. EFA Tagung; 22.3.2014; Villach, Austria. 2014. [Oral Communication]

Kroisel, PM; Plecko, B; Brunner-Krainz, M; Speicher, MR; Windpassinger, C Lobar holoprosencephaly (HPE) associated with additional clinical anomalies in two daughters of a consanguineous couple. Comparison of SNP-array analysis results as an attempt to search for a potential causative candidate gene
Meeting abstracts http://www.ashg.org/2013meeting/abstracts/fulltext/index.shtml. 2013; -The 63rd Annual Meeting of the American Society of Human Genetics ; OCT 22-26, 2013; Boston, USA. [Poster]
FullText

Rupp, V; Ahmad Khan, M; Orpinell, M; Nürnberg, P; Steinmetz, MO, Speicher, MR; Enzinger, C; Gönczy, P.; Windpassinger, C. Mutation eines neuen Mikrozephalie Gens in einer konsanguinen, pakistanischen Familie führt zur Störung der Zentriolenduplikation
13.Tagung der Österreichischen Gesellschaft für Humangenetik; SEPT 26, 2013; Innsbruck, AUSTRIA. 2013. [Oral Communication]

Schaller, S; Windpassinger, C; Rupp, V; Kroisel, PM; Birnbacher, R Autosomal rezessive Form eines Dysmorphiesyndroms mit multiplen Fehlbildungen bei zwei Mitgliedern einer konsanguinen türkischen Familie
www.paediatrie 2013.at. 2013; -51. Jahrestagung der Österreichischen Gesellschaft für Kinder- und Jugendheilkunde; SEP 25-28, 2013; Innsbruck, AUSTRIA. [Poster]

Tongsook, C; Bernkopf, M; Windpassinger, C; Macheroux, P Exploration of the function of human methyltransferase like 23 (METTL23)
FEBS J. 2013; 280: 97-97. [Poster]
Web of Science

Windpassinger C FHL1: Cases from Austria
Neuromuscular Disorders . 2013; -FHL1 related myopathies: towards an FHL1 related myopathy consortium; June 7-9; Naarden, Netherlands. [Oral Communication]

Windpassinger, C; Kroisel, PM; Rupp, V; Speicher, MR; Birnbacher, R Eine neuartige, syndromale Form von mentaler Retardierung mit spezifischen Dysmorphien in einer konsanguiner Konstellation ist assoziiert mit einer homozgoten Splice-Site Mutation in einem Gen der Kinesin-Familie
http://www.oegh.at/. 2013; -ÖGH Jahrestagung 2013; SEP 26, 2013; Innsbruck, AUSTRIA. [Oral Communication]

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]
FullText

Binder, J; Weidemann, F; Beer, M; Machann, W; Niemann, M; Plank, G; Lafer, I; Quasthoff, S; Stojakovic, T; Windpassinger, C SPONGIOUS HYPERTROPHIC CARDIOMYOPATHY: A NOVEL PHENOTYPE OF HYPERTROPHIC CARDIOMYOPATHY IN PATIENTS WITH MUTATIONS IN THE FOUR-AND-A-HALF LIM-DOMAIN 1 GENE.
J AM COLL CARDIOL. 2012; 59(13):E1579-E1579.-61st Annual Scientific Session and Expo of the American College of Cardiology (ACC); MAR 24-27, 2012; Chicago, IL, USA. Doi: 10.1016/S0735-1097(12)61580-0 [Poster]
Web of Science FullText FullText_MUG

Machann, W; Binder, J; Weidemann, F; Schoser, B; Schmidt, A; Bisping, E; Quasthoff, S; Vincent, JB; Pieske, B; Windpassinger, C; Beer, M Spongiöse hypertrophe Kardiomyopathie: ein neues erscheinungsbild der hypertrophen Kardiomyopathie bei Patienten mit FHL1-Mutation.
93. Deutscher Röntgenkongress; MAY 16-19, 2012; Hamburg, GERMANY. 2012. [Oral Communication]

Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H, Bastian, BC; Speicher, MR Germline mutations in BAP1 predispose to melanocytic tumors.
Experimental Dermatology. 2012; 21(3):e22--39th Annual Meeting of the Arbeitsgemeinschaft Dermatologische Forschung (ADF); March 01-03, 2012; Marburg, Germany. [Poster]
Web of Science

Binder, J; Weidemann, F; Schoser, B; Beer, M; Schmidt, A; Bisping, E; Lafer, I; Quasthoff, S; Vincent, JB; Pieske, B; Windpassinger, C A Novel Type of Hypertrophic Cardiomyopathy in Patients with C-Terminal Mutations in the Four-and-a-Half LIM-domain 1 Gene: Clinical Presentation and Prognostic Implications.
European Heart Journal. 2011; 32: 27-27.-ESC Congress 2011; AUG 27 - 31, 2011; Paris, FRANCE. [Oral Communication]

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]
FullText

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]

Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W, Wolf, I; Becker, JC; Loy, S; Viale, A; Lash, AE; Pirun, M; Socci N; Ruetten, A; Palmedo, G; Ott, A; Abramson, D; Offit, K; Cerroni, L; Kutzner, H; Bastian, BC; Speicher, MR Germline mutations in BAP1 predispose to melanocytic nevi and melanoma.
Proceedings Supplements2011; -AACR 102nd Annual Meeting; APR 2-6, 2011; Orlando, FL, USA. [Poster]

Windpassinger, C; Poparic, I; Schreibmayer, W; Gorischek, A; Gorischek, A; Miedl, H; Desoye, G; Hochmeister, S; Binder, J; Quasthoff, S; Mächler, H; Wagner, K; Schoser, B; Malle, E Mutations in FHL1 impair expression and functionality of Kv1.5 in XMPMA patient myoblasts.
European Journal of Human Genetics. 2011; 19(2):410-410.-European Human Genetics conference 2011; May 28 - 31, 2011; Amsterdam. [Poster]

Kroisel, PM; Obenauf, AC; Windpassinger, C; Pfeifer, D; Wagner, K; Roetzer, KM; Schwarzbraun, T; Speicher, MR; Woellner, C; Beitzke, M; Grimbacher, B Dubowitz-Syndrome associated with Hyper-IgE-Syndrome in a female patient. No evidence thus far for a common genetic basis.
European Journal of Human Genetics2010; 57(3):123-123.-European Human Genetics Conference 2010; June 12 - 15, 2010; Gothenburg, SWEDEN. [Poster]
FullText

Kroisel PM, Windpassinger C, Fröhlich-Reiterer E Sehr ausgeprägte autosomal rezessiv vererbte Stoffwechselstörung mit frühem postnatalen Onset
26. Syndromenclub der ÖGH ; JUN 25; Salzburg, AUSTRIA. 2010. [Oral Communication]

Poparic, I; Gorischek A; Wagner,V; Wagner,K; Windpassinger,C; Schreibmayer, W FOUR AND A HALF LIM DOMAIN 1 (FHL1) VARIANTS REDUCE CONDUCTIVITY OF THE KCNA5 CHANNEL.
Biophysical Society 54th Annual Meeting; February 20-24, 2010; San Francisco, CA, USA. 2010. [Poster]

Poparic, I; Gorischek, A; Wagner, V; Wagner, K; Schreibmayer, W; Windpassinger, C FHL1, possible regulator of potassium channels involved in cardiac excitability
CBCS/ESC Summer School on Cardiovascular Sciences: "From Basic Mechanisms to Clinical Application"; JUL 5-9, 2009; Nice, FRANCE. 2009. [Poster]

Windpassinger, C Oligodontia with short stature is caused by mutation in the gene encoding latent TGF-ß Binding Protein, LTBP3
9. TAGUNG DER ÖSTERREICHISCHEN GESELLSCHAFT FÜR HUMANGENETIK; SEP 25, 2009; Linz. 2009. [Oral Communication]
FullText

Jud, D; Schwarzbraun. T; Binder, J; Prokesch, A; Windpassinger, C; Wagner, K. BSCL2 and its possible function in adipogenesis
European Journal of Human Genetics - Supllement 2. 2008; 16: 241--European Congress of Human Genetics; MAY 31-JUNE 3, 2008; Barcelona, Spain. [Poster]

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]
Web of Science

Quasthoff, S; Windpassinger, C; Schoser, B; Straub, V; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, WN; Wagner, K; Lochmüller, H; Budka, H; Vincent, JB Mutation im FHL1 Gen verursacht eine neue X-chromosomale Myopathie mit charakteristischen Phänotyp durch Atrophie der Posturalmuskulatur
6. Jahrestagung der Österreichischen Gesellschaft für Neurologie (ÖGN); FEB 6-9, 2008; Innsbruck, AUSTRIA. 2008. [Poster]

Sarkozy, A; Bushby, K; Hilton-Jones, D; Dougan, CF; Lochmuller, H; Windpassinger, C; Straub, V Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene
NEUROMUSCULAR DISORD. 2008; 18(9-10):819-819.-13th International Congress of the World-Muscle-Society; SEP 29-OCT 02, 2008; Newcastle upon Tyne, ENGLAND. Doi: 10.1016/j.nmd.2008.06.327 [Poster]
Web of Science FullText FullText_MUG

Quasthoff, S; Schoser, B; Straub, V; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Mikhailov, A; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, WN; Wagner,K; Lochmüller, H; Vincent, JB; Windpassinger, C A novel X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutation in FHL1
World muscle Society meeting; 17.10.-20.10 2007; Taormina, Italien. 2007. [Oral Communication]

Windpassinger, C; Schoser, B; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, W; Wagner,K; Lochmüller, H; Vincent, JB; Quasthoff, S Mutations in FHL1 cause a novel X-linked myopathy with specific/unique clinical features.
57th Annual Meeting of the American Society of Human Genetics ; OCT 23- 27, 2007; San Diego, Ca, USA. 2007. [Poster]

Jud, D; Ofner, L; Schwarzbraun, T; Petek, E; Wagner, K; Windpassinger, C siRNA knock-down in 3T3-L1 Zellen.
-Jahrestagung der Österreichische Gesellschaft für Humangenetik; SEP 29, 2006; Vienna, Austria. [Oral Communication]

Jud, D; Ofner, L; Schwarzbraun, T; Weiss, S; Petek, E; Wagner, K; Windpassinger, C Expression analysis of mutant seipin in CHO cells.
Jahrestagung der Deutschen Gesellschaft für Humangenetik 2005 ; MAR 9-12, 2005; Halle / Saale, GERMANY. 2006. [Poster]

Jud, D; Schwarzbraun, T; Ofner, L; Petek, E; Wagner, K; Windpassinger, C Effects of BSCL2 knock down in preadipocytes differentiation.
Jahrestagung der Deutschen Gesellschaft für Humangenetik 2006; MAR 8-11, 2006; Heidelberg, GERMANY. 2006. [Poster]

Jud, D; Schwarzbraun, T; Ofner, L; Petek, E; Wagner, K; Windpassinger; C Funktionelle Studien zur Expression und Lokalisation von Seipin.
5. Symposium der Tom-Wahlig-Stiftung im Rahmen der 50. Jahrestagung der Deutschen Gesellschaft für Klinische Neurophysiologie (DGKN) 2006; MAR 24-26, 2006; Bad Nauheim, GERMANY. 2006. [Oral Communication]

Ofner, L; Schwarzbraun, T; Windpassinger, C; Malli, R; Graier, WF; Petek, E; Jud, D; Kroisel, PM; Wagner, K; BSCL2 Mutationen und der ER stress.
2006; -Jahrestagung der österreichischen Gesellschaft für Humangenetik; Sept, 2006; Vienna, AUSTRIA. [Oral Communication]

Ofner, L; Schwarzbraun, T; Windpassinger, C; Malli, R; Graier, WF; Petek, E; Jud, D; Kroisel; PM; Wagner, K BSCL2 Mutanten und der ER Stress
Tagung der Österreichischen Gesellschaft für Humangenetik; Sept 29, 2006; Vienna, AUSTRIA. 2006. [Oral Communication]

Ofner, L; Windpassinger, C; Malli, R; Graier, WF; Petek, E; Schwarzbraun, T; Jud, D; Kroisel, PM; Wagner, K; The possible role of calcium in the pathophysiology of BSCL2
GfH Tagungsband 2005. 2006; -GFH, Tagung Halle; MÄRZ 9-12 2005; Halle, GERMANY. [Oral Communication]

Ofner, L; Windpassinger, C; Malli, R; Graier, WF; Schwarzbraun, T; Jud, D; Wagner, K BSCL2 missense mutations provoke ER Stress and ensue apoptosis
18. Jahrestagung der Deutschen Gesellschaft für Humangenetik; März 7 - 10, 2007; Bonn, Germany. 2006. [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]
Web of Science

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]

Zebisch, A; Staber, PB; Fischereder, K; Bodner, C; Hiden, K; Linkesch, W; Auner, HW; Emberger, W; Windpassinger, C; Schimek, MG; Hoefler, G; Troppmair, J; Sill, H Two novel activating germline mutations of the C-RAF proto-oncogene predisposing to solid tbmors and therapy-related acute myeloid leukemia.
BLOOD 2004 104: 920A-920A. Doi: 10.1182/blood.V104.11.3370.3370
Web of Science FullText FullText_MUG

Zebisch, A; Staber, PB; Fischereder, K; Bodner, C; Hiden, K; Linkesch, W; Auner, HW; Windpassinger, C; Höfler, G; Sill, H; C-RAF mutations in therapy-related acute myeloid leukemia.
Onkologie. 2004; 27: 118-118. [Poster]

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]

Roschitz, B; Auer-Grumbach, M; Brunner-Krainz, M; Quathoff, S; Windpassinger, C; Plecko, B Familial, juvenile amyotrophic lateral sclerosis- case report in a 16 year old patient
Neuropediatrics2003; 33(6):A66--29th annual meeting of the society for Neuropediatrics; FEBv 13-15; 2003; Vienna, AUSTRIA. [Poster]

Roschitz, B; Auer-Grumbach, M; Brunner-Krainz, M; Simbrunner, J; Windpassinger, C; Plecko, B Fulminanter Verlauf einer juvenilen familiären amyotrophen Lateralsklerose bei einem 16 jährigen Patienten
Abstractband2003; -41. Jahrestagung der Österr. Gesellschaft für Kinder- und Jugendheilkunde; OKT 1-4, 2003; Salzburg, AUSTRIA. [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]

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.
Web of Science

Petek, E; Windpassinger, C; Scherer, SW; Wagner, K; Kroisel, PM Molecular genetic delineation of de novo 7p11-p14 deletions in Greig syndrome
EUR J HUMAN GENET 2002 10: 121-121.
Web of Science

Windpassinger, C; Wagner, K; Scherer, SW; Kroisel, PM; Petek, E Refined molecular characterisation of a de novo t(5;18)(q33;q12) associated with Rett-like syndrome and autism
EUR J HUMAN GENET 2002 10: 219-220.
Web of Science

Kroisel, PM; Wagner, K; Kolozsvari, D; Windpassinger, C; Scherer, SW; Petek, E Identification of disease causing genes in 7p11-p14 deleted in patients with Greig syndrome and additional clinical features.
AMER J HUM GENET 2001 69: 285-285.
Web of Science

↑ Top of page / Navigation