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]
Schreiner, E; Blatterer, J; Tichy, H; Bierbaumer, S; Hammer, S; Artl, M; Wagner, K; Speicher, M; Verheyen, S
X-linked recessive intellectual developmental disorders in females – an overlooked cause? 3 case reports from Graz.
21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik; Sept 29-30, 2022; Graz, Austria. 2022.
[Oral Communication]
Bettermann, K; Kuldeep Mehta, A; Lederer, E; Ernst, C; Kessler, SM; Kojima, K; Chen, X; Hoshida, Y; Bardeesy, N; Fuchs, B; Tanabe, KK; Müller, H; Svendova, V; Schimek, MG; Mach, M; Speicher, M; Divoky, C; Lipfert, A; Mahajan, V; Stumptner, C; Thüringer, A; Fröhlich, LF; Smole, C; Stojakovic, T; Scheideler, M; Nilsson, KPR; Kolbe, T; Rülicke, T; Longerich, T; Schirmacher, P; Magin, TM; Strnad, P; Fuchs, C; Trauner, M; Spilka, R; Kiemer, A; Teufel, A; Maass, T; Grabe, N; Müller, KM; Themanns, M; Moriggl, R; Campbell, J; Thorgeirsson, S; Pasparakis, M; Stauffer, J; Karin, M; Llovet, JM; Zatloukal, K; Denk, H; Lackner, C; Haybaeck, J
Dysbalanced keratins drive steatohepatitis-associated liver carcinogenesis
8th European Conference of Intermediate filaments in health and disease. 2013; -8th European Conference of Intermediate filaments in health and disease; SEP 18-21, 2013; Amsterdam, Netherlands.
[Poster]
Bettermann, K; Kuldeep Mehta, A; Lederer, EM; Ernst, C; Kessler, SM; Kojima, K; Cheng, X; Hoshida, Y; Bardessy, NM; Fuchs, BC; Tanabe, KK; Müller, HH; Svendova, V; Schimek, MG; Mach, M; Speicher, MR; Diwoky, C; Lipfert, A; Mahajan, V; Stumptner, C; Thüringer, A; Fröhlich, LF; Smole, C; Stojakovic, T; Scheideler, M; Nilsson, KPR; Kolbe, T; Rülicke, T; Longerich, T; Schirmacher, P; Magin, TM; Strnad, P; Fuchs, CD; Trauner, M; Spilka, R; Kiemer, AK; Teufel, A; Maass, T; Grabe, N; Müller, KM; Themanns, M; Moriggl, R; Campbell, JS; Thorgeirsson, S; Pasparakis, M; Stauffer, J; Karin, M; Llovet, JM; Zatloukal, K; Denk, H; Lackner, C; Haybaeck, J
Dysbalanced Keratins promote Steatohepatitis-associated Liver Carcinogenesis
Der Pathologe, FP 08. 2013; 34(Issue6):591-591.-Joined Annual Meeting of the Swiss and Austrian Society for Pathology; NOV 7-9, 2013; Baden, Switzerland.
[Oral Communication]
Griewank, KG; Westekemper, H; Schilling, B; Mach, M; Murali, R; Wiesner, T; Schimming, T; Grabellus, F; Metz, C; Sucker, A; Hillen, U; Speicher, M; Woodman, S; Steuhl, K; Schadendorf, D;
Oncogene and copy number analysis of a larger cohort of conjunctival melanoma.
EXP DERMATOL. 2013; 22(3):E43-E43.-40th Annual Meeting of the Association-of-Dermatological-Research; MAR 14-16, 2013; Dessau, GERMANY.
[Oral Communication]
Web of Science
Lafer, I; Geigl, JB; Mach, M; Pischler, C; Vallant, E; Speicher, MR; Wagner, K; Kroisel, PM
Microdeletion of 831 kb in a young woman leads to
haploinsufficiency of more than 30 genes at 17q including a
copy of the BRCA1-gene. Consequences for genetic and clinical
management.
http://www.gfhev.de/kongress_archiv/2013%20de/kongress/GfH-Tagung_Abstractband_2013.pdf. 2013; -24. Jahrestagung der Deutschen Gesellschaft für Humangenetik
gemeinsam mit der Österreichischen Gesellschaft für Humangenetik
und der Schweizerischen Gesellschaft für Medizinische Genetik; MAR 20-22, 2013; Dresden, GERMANY.
[Poster]
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Kroisel, PM; Geigl, JB; Mach, M; Pischler, C; Vallant, E; Speicher, MR; Wagner, K
A microdeletion of about 831 kb in a young woman causes a loss of more than 30 genes on the long arm of chromosome 17 including a copy of the BRCA1-gene. Implications for genetic counselling and clinical management.(3116F)
http://abstracts.ashg.org/cgi-bin/2012/ashg12s. 2012; -American Society of Human Genetics, Annuak Meeting; NOV 6-10, 2012; San Francisco, USA.
[Poster]
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Kroisel, PM; Roetzer, KM; Mach, M; Speicher, MR; Kortschak, A; Kaschnitz, W; Auer, M; Geigl, JB; Wagner, K
A de novo balanced translocation that affects chromosomal bands Xp21.2 and 11q13.1 is associated with an autism spectrum disorder.
http://www.abstractsonline.com/Plan/SSResults.aspx. 2012; -European Human Genetics Conference; JUNE 23 - 26; Nürnberg, GERMANY.
[Poster]
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Kroisel PM, Geigl JB, Auer M, Mach M, Vallant E, Obenauf AM, Rötzer KM, Wagner K, Speicher MR, Gruber-Sedlmayr U, Kortschak A, Liechtenstein C, Birnbacher R
Array Painting-eine neue Methode zur exakten Bruchpunktbestimmung bei balanzierten Translokationen
s.u.. 2011; -ÖGH Jahrestagung 2011; SEP 30,2011; Salzburg/AUSTRIA.
[Oral Communication]
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Kroisel PM, Mach M, Vallant E, Rötzer KM, Obenauf AM, Wagner K, Speicher MR, Häusler M
The Graz Experience - over 1000 postnatal and several prenatal aCGH analyses.
Increasing evidence for a new microdeletion syndrome affecting band 3p13 with non recurrent chromosomal breakpoints.
DECIPHER SYMPOSION 2011
s.u.. 2011; -DECIPHER Symposion 2011; MAY 23-25, 2011; Cambridge/UK.
[Oral Communication]
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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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Roetzer, KM; Schwerin-Nagel, A; Kroisel, PM; Mach, M; Vallant, EM; Wagner, K; Speicher, MR; Plecko-Startinig, B
Vermis hypoplasia as part of a contiguous gene syndrome in a girl with microdeletion 10q26
European Journal of Human Genetics. 2011; -European Human Genetics Conference; MAY 28-31, 2011; Amsterdam, THE NETHERLANDS.
[Poster]
Roetzer, KM; Kortschak, A; Mach, M; Vallant, EM; Wagner, K; Tschepper, P; Ulz, P; Speicher, MR; Emberger, W
Deletions/Duplikations-Mosaik 6q bei einem Mädchen mit Entwicklungsretardierung und Dysmorphien, das mit Array-CGH nicht identifizierbar war
ÖGH-Jahrestagung; SEP 24, 2010; Vienna, AUSTRIA. 2010.
[Oral Communication]
Roetzer, KM; Obenauf, AC; Schwarzbraun, T; Uhrig, S; Emberger, W; Sodia, S; Mach, M; Vallant, E; Hauser, E; Wagner, K; Kroisel, PM; Speicher, MR
Array-CGH for the identification of constitutional copy number changes
DECIPHER Symposium; MAY 19-21, 2010; Cambridge, GREAT BRITAIN. 2010.
[Oral Communication]
Obenauf, AC; Schwarzbraun, T; Roetzer, KM; Mach, M; Vallant, E; Kroisel, PM; Uhrig, S; Geigl, JB; Wagner, K; Speicher, MR
Array-CGH for the identification of constitutional copy number changes.
Abstractbook of the European Human Genetics Conference 2009; -European Human Genetics Conference; May 23-26, 2009; Vienna, Austria.
[Poster]
Obenauf, AC; Schwarzbraun, T; Roetzer, KM; Mach, M; Vallant, E; Kroisel, PM; Uhrig, S; Geigl, JB; Wagner, K; Speicher, MR,
Array CGH for the Identification of of constitutional copy number changes
Tagung der österreichischen Gesellschaft für Humangenetik; 2009.
[Oral Communication]
Geigl, JB; Obenauf AC; Waldispühl-Geigl J; Mach M; Langer S; Kastelic D; Hörmann M; Schenk MA; Speicher MR
High-resolution aneuploidy screening by array-CGH identifies polar bodies with unbalanced translocation chromosomes and their mode of meiotic segregation
Konferenzband DGH2008; -19. Jahrestagung Deutsche Gesellschaft für Humangenetik; Apr 8-10, 2008; Hannover, Germany.
[Oral Communication]
Obenauf, AC; Schwarzbraun, T; Kroisel, PM; Uhrig, S; Mach, M; Vallant, EM; Geigl, JB, Wagner, K; Speicher, MR
Array CGH for the identification of constitutional copy number changes
Medizinische Genetik. 2008; -Tagung der Gesellschaft für Humangenetik; APRIL 8-10,2008 ; Hannover.
[Poster]
Obenauf, AC; Schwarzbraun, T; Kroisel, PM; Uhrig, S; Mach, M; Vallant, EM; Geigl, JB, Wagner, K; Speicher, MR
Array CGH for the identification of constitutional copy number changes.
DECIPHER Abstractbook2008; -DECIPHER meeting; MAY 19-21; 2008; Cambridge, UK.
[Poster]