Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Wagner Klaus |
Präsentationen bei wissenschaftlichen und nicht-wissenschaftlichen Veranstaltungen
Blatterer, J; Hammer, S; Bierbaumer, S; Husic, R; Schmid, J; Schreiner, E; Tichy, H; Wagner, K; Verheyen, S
The zebra among horses - COPA syndrome as a potentially underdiagnosed autoimmune disorder
EUR J HUM GENET. 2024; 32: 1035-1035.
[Poster]
Web of Science
FullText
Blatterer, J; Hammer, S; Wagner, K; Tichy, H; Schreiner, E; Spiegl, B; Bierbaumer, S; Smogavec, M; Lehner, R; Madritsch, S; Stadlmann, V; Hofer, M; Gerykova Bujalkova, M; Riepl, N; Umlauf, E; Mühlegger, B; Burkhard, S; Maurer, E; Schneebauer, E; Gröbner, E; Witsch-Baumgartner, M; Rötzer, K; Uyanik, G; Nagy, D; Maurer, M; Bader, I; Mayr, J; Ebner, S; Bogner, B; Pleyers, A; Kranewitter, W; Malli, T; Webersinke, G; Zschocke, J; Laccone, F; Verheyen, S
Austrian Exome meetings – a nationwide competence sharing initiative
15th International Symposium on Variants in the Genome; MAY 13-15, 2024; Povoa de Varzim, PORTUGAL. 2024.
[Poster]
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
Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Kuehberger, S; Tichy, H; Wagner, K; Verheyen, S
Phenotype expansion of SAMD9L-associated Ataxia-Pancytopenia Syndrome
EUR J HUM GENET. 2024; 32: 1039-1040.
[Poster]
Web of Science
FullText
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]
Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Speicher, M; Tichy, H; Wagner, K; Verheyen, S
Zusatzbefunde in der WES-HPO-Auswertung 2019-2023 am Grazer Institut für Humangenetik.
22. Jahrestagung der Österreichischen Gesellschaft für Humangenetik
; Sep 29, 2023; Wien, Österreich. 2023.
[Oral Communication]
Schreiner, E; Blatterer, J; Bierbaumer, S; Hammer, S; Schwerin-Nagel, A; Tichy, H; Wagner, K; Speicher, M; Verheyen, S
NXN-related Robinow-syndrome – Expansion of the clinical and genetic spectrum.
34. Jahrestagung der Deutschen Gesellschaft für Humangenetik e.V. ; Mar 15-17, 2023; Kassel, Germany. 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
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]
Gocmen, SU; Wagner, K; Gokce, S
Cystic Fibrosis Transmembrane Conductance Regulator Gene Variations in Coding and Noncoding Regions in Congenital Bilateral Absence of the Vas Deferens Dependent Infertility.
BIOPHYS J. 2020; 118(3):588A-588A.-64th Annual Meeting of the Biophysical-Society; FEB 15-19, 2020; San Diego, CA.
[Poster]
Web of Science
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
Kroisel, PM; El Shabrawi-Caelen, L; Schwarzbraun, T; Speicher, M; Laccone, F; Wagner, K
A young patient of disproportionate short stature suffering of glaucoma was diagnosed to have Weill-Marchesani 4 syndrome by WES however the cause of his additional progeroid phenotype is still unclear.
Medizinische Genetik. 2019; 31: -30. GfH Jahrestagung; MAR 6-8, 2019; Weimar, GERMANY.
[Poster]
FullText
Kroisel, PM; Häusler, M; Klaritsch, P; Wagner, K
In a prenatal setting we successfully applied targeted DNA sequencing to detect rare disease causing gene mutations in two families with strongly increased nuchal translucency bisides very severe additional fetal anomalies
siehe unten. 2017; -European Human Genetic Conference; MAY 27-30, 2017; Copenhagen, DENMARK.
[Poster]
FullText
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
Kroisel, PM; Verheyen, S; Wagner, K; Speicher, MR; Schwerin-Nagel, A; Liehr, T
Constitutional inverted insertion in a healthy parent as a pathogenetic cause for recurrent duplications in offsprings.
medizinische genetik. 2016; -GfH Jahrestagung 2016; MAR 16-18, 2016; Lübeck, GERMANY.
[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
Kroisel PM1, Auer M1, Roetzer KM2, Birnbacher R3, Wagner K1, Speicher MR1, Mehrjouy MM4, Bak M4, Geigl JB1, Tommerup N4.
Application of array painting and next generation mate-pair sequencing (MPS) for improved mapping of chromosomal breakpoints in a familial translocation segregating with a particular phenotype
American Journal of Human Genetics. 2014; -American Society of Human Genetics Meeting 20014; OCT 18-22,2014; San Diego, USA.
[Poster]
FullText
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
Kroisel, PM; Pichler, U; Kuchernig, D; Mach, M; Pischler, C; Schwarzbraun, T; Wagner, K; Speicher, MR
West syndrome, general psychomotor retardation and dysmorphic features in a female patient due to a 2.92 Mb microdeletion leading to a haploinsufficiency of the CDKL5 gene and several additional flanking genes
https://www.eshg.org/programme2013.0.html
www.nature.com/ejhg. 2013; -European Human Genetics Conference 2013; JUN 8-11, 2013; Paris, FRANCE.
[Poster]
FullText
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]
FullText
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]
FullText
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
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]
FullText
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]
FullText
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]
FullText
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]
FullText
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]
FullText
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]
FullText
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
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]
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]
Kroisel, PM; Obenauf, AC; Kortschak, A; Wagner, K; Schwarzbraun, T; Speicher, MR
Microdeletion of the FBXO11-gene and the MSH6-gene at 2p16.3 is likely to cause a distinct microcephaly, mental retardation, facial dysmorphism syndrome associated with an increased risk for intestinal cancer.
Medizinische Genetik
medgen2009; 21(1):149-149.-GFH-Tagung; APR 1-3, 2009; Aachen, GERMANY.
[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 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]
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]
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]
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]
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]
Auer-Grumbach, M; Fischer, C; Duong, N; Huebner, A; John, E; Wagner, K; Speicher, M; Wehnert, M
LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?
NEUROMUSCULAR DISORD. 2007; 17(9-10):799-799.
Doi: 10.1016/j.nmd.2007.06.129
[Poster]
Web of Science
FullText
FullText_MUG
Obenauf, AC; Uhrig, S; Schwarzbraun, T; Geigl, JB; Wagner, K; Speicher, MR
One year array-CGH in clinical genetics and research.
Abstractbook zur Jahrestagung der Österreichischen Gesellschaft für Humangenetik, 20072007; -Jahrestagung der Österreichischen Gesellschaft für Humangenetik; September 28, 2007; Graz, AUSTRIA.
[Oral Communication]
Obenauf, AC; Uhrig, S; Schwarzbraun, T; Wagner, K; Speicher, MR
Array-CGH for the identification of constitutional copy number changes
DECIPHER Symposium; MAY 16-18, 2007; Cambridge, United Kingdom. 2007.
[Oral Communication]
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]
Varon, R; Müer, A; Wagner, K; Zierler, H; Sodia, S; Rauter, L; Petek, E; Tönnies, H; Neitzel, H; Sperling, K; Kroisel, PM
Nijmegen breakage syndrome due to maternal isodisomy of chromosome 8.
Medizinische Genetik2006; 18(1):107-107.-GFH, Tagung Halle2006; Mar 8-11, 2006; Halle, GERMANY.
[Poster]
Emberger, W; Regauer, S; Sodial, S; Reich, O; Zierler, H; Wagner, K; Pfragner, R
Endometrial stromal sarcoma: cytogenetic and molecular cytogenetic analyses
EUR J CELL BIOL 2005 84: 17-17.
Web of Science
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]
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]
Proukakis, C; Crosby, AH; Auer-Grumbach, M; Wagner, K; Reid, E; Patton, MA; Warner, TT
Screening of the spastin gene in autosomal dominant hereditary spastic paraplegia reveals seven novel mutations
J NEUROL NEUROSURG PSYCHIAT 2003 74: 406-407.
Web of Science
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]
Devolder-Irobi, JI; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Plecko, B; Wagner, K; Kennerson, M; Nicholson, G; Zhu, D; Hartung, HP; Timmerman, V; De-Jonghe, P
Autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) and distal hereditary motor neuropathy (distal HMN) with pyramidal tract signs
EUR J HUMAN GENET 2002 10: 214-215.
Web of Science
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.
Web of Science
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
Ruiz-Casares, E; Tumer, Z; Bugge, M; Henriques-Gil, N; Rodriguez, L; Lopez, F; Kroisel, P; Wagner, K; Lundsteen, C; Kalscheuer, V; Tommerup, N
Mapping of chromosomal breakpoints associated with orofacial clefts.
EUR J HUMAN GENET 2002 10: 161-162.
Web of Science
Sodia, S; Emberger, W; Rauter, L; Petek, E; Zierler, H; Wagner, K; Kroisel, PM
Constitutional mosaicism for a partial trisomy 8 in a patient with a Chromosome Breakage Syndrome
EUR J HUMAN GENET 2002 10: 130-130.
Web of Science
Timmerman, V; Verhoeven, K; Coen, K; Verpoorten, N; Auer-Grumbach, M; Kwon, JM; FitzPatrick, D; De Vriendt, E; Jacobs, A; Van Gerwen, V; Wagner, K; Hartung, HP; De Jonghe, P
Mutations in the small GTPase late endosomal protein RAB7 are associated with Charcot-Marie-Tooth type 2B neuropathy.
AMER J HUM GENET 2002 71: 544-544.
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
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]
Verhoeven, K; De Vriendt, E; De Jonghe, P; Auer-Grumbach, M; Kwon, J; Wagner, K; Hartung, HP; Timmerman, V
Ulcero-mutilating peripheral neuropathies: genetic linkage study and mutation analysis of candidate genes.
AMER J HUM GENET 2000 67: 325-325.
Web of Science
Emberger, W; Petek, E; Kroisel, PM; Trojovsky, A; Zierler, H; Wagner, K
Phenotype correlation of two patients with partial trisomy 1(q41-qter) combined with partial monosomy 8(p23.3-pter) respectively partial monosomy 5(p13.3-pter)
CYTOGENET CELL GENET 1999 85: 147-147.
Web of Science
Petek, E; Holinski-Feder, E; Reyniers, E; Schoepen, I; Meitinger, T; Kooy, RF; Zierler, H; Wagner, K; Kroisel, P
Familial cryptic reciprocal translocation leading to a high incidence of unbalanced telomeric partial trisomy and monosomy
CYTOGENET CELL GENET 1999 85: 161-161.
Web of Science
Trojovsky, A; Zierler, H; Häusler, M; Emberger, W; Kroisel, PM; Wagner, K
Chromosomal abnormalities found in prenatal diagnosis
CYTOGENET CELL GENET 1999 85: 60-60.
Web of Science
WAGNER, K; KROISEL, PM; ROSENKRANZ, W
PREPARATIVE IN-SITU HYBRIDIZATION (PREP-ISH) OF A CDNA LIBRARY CORRESPONDING TO SUBREGIONS OF CHROMOSOME 7P
CYTOGENET CELL GENET 1995 71: 24-24.
Web of Science