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Rötzer Katharina Magdalena |

Presentations at scientific and public conferences

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, Plecko B, Roetzer KM, Uhrig S, Wagner K Familiäres Auriculo-condyläres Syndrom
27. Syndromenclub der ÖGH ; FEB 4; Salzburg, AUSTRIA. 2011. [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]
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Roetzer, KM; Plecko-Startinig ,B Mikrodeletion 10q26 mit Kleinhirnwurmhypoplasie
Syndromclub; FEB 4, 2011; Salzburg. 2011. [Oral Communication]

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]

Schwerin-Nagel A, Rötzer K, Kroisel P, Wagner K, Plecko B Microdeletion 10q26 syndrome- a rare cause for developmental retardation, strabismus and hypopülasia of cerebellum - A case report
Neuropediatrics. 2011; 42(S1):S37--37. Jahrestagung des Gesellschaft für Neuropädiatrie; 7.-10.4.2011; Garmisch-Partenkirchen. [Poster]

Kroisel, PM; Obenauf, AC; Eichwalder, B; Gruber-Sedlmayr, U; Wagner, K; Schwarzbraun, T; Speicher, MR; Auer, M; Hoffmann, EM; Rötzer, KM; Geigl, JB Molecular characterization of translocation breakpoints in two cases with either a familial or a de novo constitutional translocation co-segregating with phenotypic anomalies as an attempt to directly identify genes involved.
Medizinische Genetik2010; 22(1):174-175.-21. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik ; 2.4. März 2010; Hamburg, GERMANY. [Poster]
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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]
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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; Plecko-Startinig, B; Brunner-Krainz, M; Speicher, MR Recurrent 16p11.2-p12.2 microdeletion syndrome: narrowing the minimal critical deletion region
Medizinische Genetik2010; 22(1):-GfH-Jahrestagung; MAR 2-4, 2010; Hamburg. [Poster]

Roetzer, KM; Obenauf, AC; Plecko-Startinig, B; Brunner-Krainz, M; Speicher, MR Narrowing down the minimal critical deletion region of recurrent 16p11.2-p12.2 microdeletion syndrome
European Journal of Human Genetics2010; -European Human Genetics Conference; JUN 12-15, 2010; Gothenburg, SWEDEN. [Poster]

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]

Juch, H; Roetzer, KM Adalimumab - an indication for termination of pregnancy?.
20th annual ENTIS meeting; MAI 29-31, 2009; Florenz, ITALIEN. 2009. [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]

Roetzer, KM; Laccone, F; Krebs, A; Grill, F; Robins, S; Varga, F; Klaushofer, K; Al Kaissi, A Novel mutation in the carboxyl-terminal propeptide of the procollagen alpha 1 (I) chain in a girl with prenatal cortical hyperostosis and multiple fractures
BONE. 2009; 45: S81-S81.-ICCBH5; JUN 23-26, 2009; Cambridge, UK. Doi: 10.1016/j.bone.2009.04.106 [Poster]
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Roetzer, KM;Obenauf, AC;Schwarzbraun, T;Schoner, K;Speicher, MR; Rehder, H Complex chromosomal rearrangement in chromosome 4q causes acrofacial dysostosis and cardiovascular malformation
Abstractbook of the European Human Genetics Conference 20092009; -European Human Genetics Conference; MAY 23-26, 2009; Vienna, AUSTRIA. [Poster]

Roetzer, KM; Laccone, F; Krebs, A;Grill, F;Robins, SP; Varga, F; Klaushofer, K;Al Kaissi, A Neue Mutation im C-terminalen Propeptid des Kollagen 1A1 bei einem Mädchen mit pränataler kortikaler Hyperostose und multiplen Frakturen
8. Jahrestagung der Österreichischen Gesellschaft für Humangenetik; 26.09.2008; Innsbruck, Austria. 2008. [Oral Communication]

K.M. Roetzer, F. Varga, E. Zwettler, K. Nawrot-Wawrzyniak, J. Haller, E. Forster, K. Klaushofer Novel PHEX mutation associated with X-linked hypophosphatemic rickets
International Conference on Progress in Bone and Mineral Research; NOV 16 - 18, 2006; Vienna, AUSTRIA. 2006. [Oral Communication]

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