Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Navigation/Suche

• Forscher*innen.
• Institutionen.
• Projekte.
• Publikationen.
• Partner.
• Geldgeber.
• Ausstattung.
• Knowhow.
• Forschungsfelder.

Publikationen

Suchbegriffe: EXONS - , . Treffer: 40

2019

Pansy, K; Feichtinger, J; Ehall, B; Uhl, B; Sedej, M; Roula, D; Pursche, B; Wolf, A; Zoidl, M; Steinbauer, E; Gruber, V; Greinix, HT; Prochazka, KT; Thallinger, GG; Heinemann, A; Beham-Schmid, C; Neumeister, P; Wrodnigg, TM; Fechter, K; Deutsch, AJ The CXCR4-CXCL12-Axis Is of Prognostic Relevance in DLBCL and Its Antagonists Exert Pro-Apoptotic Effects In Vitro.
Int J Mol Sci. 2019; 20(19): Doi: 10.3390/ijms20194740 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2017

Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat. 2017; 38(3):275-278 Doi: 10.1002/humu.23162
Web of Science PubMed FullText FullText_MUG

 

Wolf, A; Frohne, A; Allen, M; Parzefall, T; Koenighofer, M; Schreiner, MM; Schoefer, C; Frei, K; Lucas, T A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.
Otol Neurotol. 2017; 38(2):173-179 Doi: 10.1097/MAO.0000000000001286
Web of Science PubMed FullText FullText_MUG

 

2016

Beheshtian, M; Izadi, N; Kriegshauser, G; Kahrizi, K; Mehr, EP; Rostami, M; Hosseini, M; Azad, M; Montajabiniat, M; Kariminejad, A; Nemeth, S; Oberkanins, C; Najmabadi, H Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
J Genet. 2016; 95(3): 667-674. Doi: 10.1007/s12041-016-0682-6 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Grenkowitz, T; Kassner, U; Wühle-Demuth, M; Salewsky, B; Rosada, A; Zemojtel, T; Hopfenmüller, W; Isermann, B; Borucki, K; Heigl, F; Laufs, U; Wagner, S; Kleber, ME; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Atherosclerosis. 2016; 253(19-20):88-93 Doi: 10.1016/j.atherosclerosis.2016.08.037
Web of Science PubMed FullText FullText_MUG

 

Matzhold, EM; Drexler, C; Wagner, T A novel ABO O allele caused by a large deletion covering two exons of the ABO gene identified in a Caucasian family showing discrepant ABO blood typing results.
Transfusion. 2016; 56(11):2739-2743 Doi: 10.1111/trf.13768
Web of Science PubMed FullText FullText_MUG

 

Ulrich, S; Posch, U; Helmberg, W; Schlenke, P HLA-A*68:02:11, a new HLA-A*68 allele identified during family HLA typing.
HLA. 2016; 88(4):197-198 Doi: 10.1111/tan.12875
Web of Science PubMed FullText FullText_MUG

 

2014

Pereira, TV; Kimura, L; Suwazono, Y; Nakagawa, H; Daimon, M; Oizumi, T; Kayama, T; Kato, T; Li, L; Chen, S; Gu, D; Renner, W; März, W; Yamada, Y; Bagos, PG; Mingroni-Netto, RC Multivariate meta-analysis of the association of G-protein beta 3 gene (GNB3) haplotypes with cardiovascular phenotypes.
Mol Biol Rep. 2014; 41(5):3113-3125 Doi: 10.1007/s11033-014-3171-0 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Polin, H; Danzer, M; Reiter, A; Brisner, M; Gaszner, W; Weinberger, J; Gabriel, C MN typing discrepancies based on GYPA-B-A hybrid.
Vox Sang. 2014; 107(4): 393-398. Doi: 10.1111/vox.12168
Web of Science PubMed FullText FullText_MUG

 

Stückler, C; Danzer, M; Raml, E; Steitzer, H; Gabriel, C Characterization of a novel HLA-A*33 allele, A*33:47, using next-generation sequencing.
Tissue Antigens. 2014; 84(4):414-415 Doi: 10.1111/tan.12386
Web of Science PubMed FullText FullText_MUG

 

2013

Auer-Grumbach, M; Bode, H; Pieber, TR; Schabhüttl, M; Fischer, D; Seidl, R; Graf, E; Wieland, T; Schuh, R; Vacariu, G; Grill, F; Timmerman, V; Strom, TM; Hornemann, T Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Eur J Med Genet. 2013; 56(5):266-269 Doi: 10.1016/j.ejmg.2013.02.002 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Eggermann, T; Spengler, S; Denecke, B; Zerres, K; Mache, CJ Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol. 2013; 79(1):78-80 Doi: 10.5414/CN106994 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Kodaganur, SG; Tontanahal, SJ; Sarda, A; Shah, MH; Bhat, V; Kumar, A Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Clin Dysmorphol. 2013; 22(2): 54-58. Doi: 10.1097/MCD.0b013e32835f9ac0
Web of Science PubMed FullText FullText_MUG

 

Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066 Doi: 10.1093/hmg/ddt056 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Niklas, N; Pröll, J; Danzer, M; Stabentheiner, S; Hofer, K; Gabriel, C Routine performance and errors of 454 HLA exon sequencing in diagnostics.
BMC Bioinformatics. 2013; 14(2):176-176 Doi: 10.1186/1471-2105-14-176 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2012

Dufke, C; Schlipf, N; Schule, R; Bonin, M; Auer-Grumbach, M; Stevanin, G; Depienne, C; Kassubek, J; Klebe, S; Klimpe, S; Klopstock, T; Otto, S; Poths, S; Seibel, A; Stolze, H; Gal, A; Schols, L; Bauer, P; A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
NEUROGENETICS. 2012; 13(3): 215-227. Doi: 10.1007/s10048-012-0329-6
Web of Science PubMed FullText FullText_MUG

 

Fantur, KM; Wrodnigg, TM; Stütz, AE; Pabst, BM; Paschke, E Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
J Inherit Metab Dis. 2012; 35(3):495-503 Doi: 10.1007/s10545-011-9409-2
Web of Science PubMed FullText FullText_MUG

 

Rinner, B; Gallè, B; Trajanoski, S; Fischer, C; Hatz, M; Maierhofer, T; Michelitsch, G; Moinfar, F; Stelzer, I; Pfragner, R; Guelly, C Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.
BMC Genomics. 2012; 13(6):594-594 Doi: 10.1186/1471-2164-13-594 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2011

Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105 Doi: 10.1016/j.ajhg.2010.12.003 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

Sarkozy, A; Windpassinger, C; Hudson, J; Dougan, CF; Lecky, B; Hilton-Jones, D; Eagle, M; Charlton, R; Barresi, R; Lochmüller, H; Bushby, K; Straub, V Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Eur J Hum Genet. 2011; 19(10): 1038-1044. Doi: 10.1038/ejhg.2011.84 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Schmidt, H; Zeginigg, M; Wiltgen, M; Freudenberger, P; Petrovic, K; Cavalieri, M; Gider, P; Enzinger, C; Fornage, M; Debette, S; Rotter, JI; Ikram, MA; Launer, LJ; Schmidt, R; CHARGE consortium Neurology working group Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.
Brain. 2011; 134(Pt 11): 3384-3397. Doi: 10.1093/brain/awr252 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2010

Kong, SW; Hu, YW; Ho, JWK; Ikeda, S; Polster, S; John, R; Hall, JL; Bisping, E; Pieske, B; dos Remedios, CG; Pu, WT Heart Failure-Associated Changes in RNA Splicing of Sarcomere Genes
Circ Cardiovasc Genet. 2010; 3(2):138-146 Doi: 10.1161/CIRCGENETICS.109.904698 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2009

Eckl, KM; de Juanes, S; Kurtenbach, J; Nätebus, M; Lugassy, J; Oji, V; Traupe, H; Preil, ML; Martínez, F; Smolle, J; Harel, A; Krieg, P; Sprecher, E; Hennies, HC Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
J Invest Dermatol. 2009; 129(6):1421-1428 Doi: 10.1038/jid.2008.409 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

Müssig, K; Staiger, H; Machicao, F; Kirchhoff, K; Guthoff, M; Schäfer, SA; Kantartzis, K; Silbernagel, G; Stefan, N; Holst, JJ; Gallwitz, B; Häring, HU; Fritsche, A Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion.
Diabetes. 2009; 58(7):1715-1720 Doi: 10.2337/db08-1589 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Ulrich, S; Sorantin, S; Posch, U; Helmberg, W; Lanzer, G A new HLA-A*26 variant, A*2637 identified by haplotype-specific extraction and sequencing-based typing.
TISSUE ANTIGEN. 2009; 73(3): 275-276. Doi: 10.1111/j.1399-0039.2008.01202.x
Web of Science PubMed FullText FullText_MUG

 

2007

Polin, H; Danzer, M; Hofer, K; Gassner, W; Gabriel, C Effective molecular RHD typing strategy for blood donations.
Transfusion. 2007; 47(8): 1350-1355. Doi: 10.1111/j.1537-2995.2007.01278.x
Web of Science PubMed FullText FullText_MUG

 

2006

Bundschu, K; Gattenlohner, S; Knobeloch, KP; Walter, U; Schuh, K Tissue-specific Spred-2 promoter activity characterized by a gene trap approach.
Gene Expr Patterns. 2006; 6(3):247-255 Doi: 10.1016/j.modgep.2005.08.003
Web of Science PubMed FullText FullText_MUG

 

Coen, K; Pareyson, D; Auer-Grumbach, M; Buyse, G; Goemans, N; Claeys, KG; Verpoorten, N; Laura, M; Scaioli, V; Salmhofer, W; Pieber, TR; Nelis, E; De Jonghe, P; Timmerman, V Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
NEUROLOGY. 2006; 66(5): 748-751. Doi: 10.1212/01.wnl.0000201191.57519.47
Web of Science PubMed FullText FullText_MUG Google Scholar

 

Juppner, H; Linglart, A; Frohlich, LF; Bastepe, M Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus
ANN N Y ACAD SCI. 2006; 1068(10): 250-255. Doi: 10.1196/annals.1346.029 [Oral Communication]
Web of Science PubMed FullText FullText_MUG

 

2005

Item, CB; Turhani, D; Thurnher, D; Yerit, K; Sinko, K; Wittwer, G; Adeyemo, WL; Frei, K; Erginel-Unaltuna, N; Watzinger, F; Ewers, R Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
Int J Mol Med. 2005; 15(2):247-251 Doi: 10.3892/ijmm.15.2.247 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Stolle, K; Schnoor, M; Fuellen, G; Spitzer, M; Engel, T; Spener, F; Cullen, P; Lorkowski, S Cloning, cellular localization, genomic organization, and tissue-specific expression of the TGFbeta1-inducible SMAP-5 gene.
Gene. 2005; 351(6-7):119-130 Doi: 10.1016/j.gene.2005.03.012
Web of Science PubMed FullText FullText_MUG Google Scholar

 

2003

Bastepe, M; Fröhlich, LF; Hendy, GN; Indridason, OS; Josse, RG; Koshiyama, H; Körkkö, J; Nakamoto, JM; Rosenbloom, AL; Slyper, AH; Sugimoto, T; Tsatsoulis, A; Crawford, JD; Jüppner, H Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
J Clin Invest. 2003; 112(8): 1255-1263. Doi: 10.1172/JCI19159 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2001

Legler, TJ; Maas, JH; Köhler, M; Wagner, T; Daniels, GL; Perco, P; Panzer, S RHD sequencing: a new tool for decision making on transfusion therapy and provision of Rh prophylaxis.
Transfus Med. 2001; 11(5):383-388 Doi: 10.1046%2Fj.1365-3148.2001.00327.x
Web of Science PubMed FullText FullText_MUG

 

1999

de Campo, A; Toplak, H; Wascher, TC; Schallmoser, K; Friehs, A; Schmidt, H; Kostner, GM Evaluation of a newly discovered LDL receptor mutation (exon 10, GAC>AAC, D271N, FH Graz-1) in familial hypercholesterolemia-- a familystudy
ACTA MED AUST 1999 26: 20-25.
Web of Science PubMed Google Scholar

 

Yao, Z; Volgger, A; Helmberg, W; Keller, E; Fan, LA; Chandanayingyong, D; Albert, ED Definition of new alleles of MIC-A using sequencing-based typing.
Eur J Immunogenet. 1999; 26(2-3):225-232 Doi: 10.1046%2Fj.1365-2370.1999.00094.x
Web of Science PubMed FullText FullText_MUG

 

1998

Nagl, UO; Erdel, M; Bergmann, F; Oehl, B; Scandella, E; Musante, L; Galietta, LJ; Gschwentner, M; Fürst, J; Schmarda, A; Hofer, S; Utermann, G; Deetjen, P; Paulmichl, M Characterization of the human gene coding for the swelling-dependent chloride channel ICln at position 11q13.5-14.1 (CLNS1A) and further characterization of the chromosome 6 (CLNS1B) localization.
Gene. 1998; 209(1-2):59-63 Doi: 10.1016/S0378-1119(98)00002-X
Web of Science PubMed FullText FullText_MUG

 

Schaider, H; Soyer, HP; Heider, KH; Hofmann-Wellenhof, R; Zatloukal, K; Smolle, J; Kerl, H CD44 and variants in melanocytic skin neoplasms.
J Cutan Pathol. 1998; 25(4):199-203 Doi: 10.1111/j.1600-0560.1998.tb01719.x
Web of Science PubMed FullText FullText_MUG Google Scholar

 

1995

Steyrer, E; Haubenwallner, S; Hörl, G; Giessauf, W; Kostner, GM; Zechner, R A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency.
HUM GENET. 1995; 96: 105-109. Doi: 10.1007%2FBF00214196
Web of Science PubMed FullText FullText_MUG Google Scholar

 

1994

Zoubek, A; Pfleiderer, C; Salzer-Kuntschik, M; Amann, G; Windhager, R; Fink, FM; Koscielniak, E; Delattre, O; Strehl, S; Ambros, PF Variability of EWS chimaeric transcripts in Ewing tumours: a comparison of clinical and molecular data.
Br J Cancer. 1994; 70(5):908-913 Doi: 10.1038/bjc.1994.419 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

1993

Haubenwallner, S; Hörl, G; Shachter, NS; Presta, E; Fried, SK; Höfler, G; Kostner, GM; Breslow, JL; Zechner, R A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
GENOMICS. 1993; 18(2): 392-396. Doi: 10.1006/geno.1993.1481
Web of Science PubMed FullText FullText_MUG Google Scholar

 

↑ Seitenanfang / Navigation

© Med Uni Graz • Impressum