Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: HUMANS - GENETICS , . Treffer: 458
2009
Fröhlich, E; Maier, E; Mack, AF; Garbe, C
Dipeptidyl peptidase II is not a marker for progression in melanoma.
J Dermatol Sci. 2009; 53(1): 68-71.
Doi: 10.1016/j.jdermsci.2008.07.014
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Gutwein, P; Schramme, A; Sinke, N; Abdel-Bakky, MS; Voss, B; Obermüller, N; Doberstein, K; Koziolek, M; Fritzsche, F; Johannsen, M; Jung, K; Schaider, H; Altevogt, P; Ludwig, A; Pfeilschifter, J; Kristiansen, G
Tumoural CXCL16 expression is a novel prognostic marker of longer survival times in renal cell cancer patients.
Eur J Cancer. 2009; 45(3): 478-489.
Doi: 10.1016/j.ejca.2008.10.023
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Mattes, D; Haas, A; Renner, W; Steinbrugger, I; El-Shabrawi, Y; Wedrich, A; Werner, C; Schmut, O; Weger, M
Analysis of three pigment epithelium-derived factor gene polymorphisms in patients with exudative age-related macular degeneration.
Mol Vis. 2009; 15: 343-348.
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2008
Bink, K; Haralambieva, E; Kremer, M; Ott, G; Beham-Schmid, C; de Leval, L; Peh, SC; Laeng, HR; Jütting, U; Hutzler, P; Quintanilla-Martinez, L; Fend, F
Primary extramedullary plasmacytoma: similarities with and differences from multiple myeloma revealed by interphase cytogenetics.
Haematologica. 2008; 93(4): 623-626.
Doi: 10.3324/haematol.12005
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Clar, H; Langsenlehner, U; Krippl, P; Renner, W; Leithner, A; Gruber, G; Hofmann, G; Yazdani-Biuki, B; Langsenlehner, T; Windhager, R
A polymorphism in the G protein beta3-subunit gene is associated with bone metastasis risk in breast cancer patients.
Breast Cancer Res Treat. 2008; 111(3):449-452
Doi: 10.1007/s10549-007-9808-0
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Olschewski, H
Dana Point: what is new in the diagnosis of pulmonary hypertension?
DEUT MED WOCHENSCHR. 2008; 133 Suppl 6(4): S180-S182.
Doi: 10.1055/s-0028-1091233
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2007
Ali, A; Christie, PT; Grigorieva, IV; Harding, B; Van Esch, H; Ahmed, SF; Bitner-Glindzicz, M; Blind, E; Bloch, C; Christin, P; Clayton, P; Gecz, J; Gilbert-Dussardier, B; Guillen-Navarro, E; Hackett, A; Halac, I; Hendy, GN; Lalloo, F; Mache, CJ; Mughal, Z; Ong, AC; Rinat, C; Shaw, N; Smithson, SF; Tolmie, J; Weill, J; Nesbit, MA; Thakker, RV
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
HUM MOL GENET. 2007; 16(3): 265-275.
Doi: 10.1093/hmg/ddl454
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Beetz, C; Zuchner, S; Ashley-Koch, A; Auer-Grumbach, M; Byrne, P; Chinnery, PF; Hutchinson, M; McDermott, CJ; Meijer, IA; Nygren, AO; Pericak-Vance, M; Pyle, A; Rouleau, GA; Schickel, J; Shaw, PJ; Deufel, T
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Hum Mutat. 2007; 28(7):739-740
Doi: 10.1002/humu.20508
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Braet, C; Stephan, H; Dobbie, IM; Togashi, DM; Ryder, AG; Földes-Papp, Z; Lowndes, N; Nasheuer, HP
Mobility and distribution of replication protein A in living cells using fluorescence correlation spectroscopy.
Exp Mol Pathol. 2007; 82(2):156-162
Doi: 10.1016/j.yexmp.2006.12.008
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Friedl, G; Schmidt, H; Rehak, I; Kostner, G; Schauenstein, K; Windhager, R
Undifferentiated human mesenchymal stem cells (hMSCs) are highly sensitive to mechanical strain: transcriptionally controlled early osteo-chondrogenic response in vitro.
Osteoarthritis Cartilage. 2007; 15(11): 1293-1300.
Doi: 10.1016/j.joca.2007.04.002
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Fröhlich, LF; Bastepe, M; Ozturk, D; Abu-Zahra, H; Jüppner, H
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.
Endocrinology. 2007; 148(6): 2925-2935.
Doi: 10.1210/en.2006-1298
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Gerger, A; Langsenlehner, U; Renner, W; Weitzer, W; Eder, T; Yazdani-Biuki, B; Hofmann, G; Samonigg, H; Krippl, P
A multigenic approach to predict breast cancer risk.
Breast Cancer Res Treat. 2007; 104(2):159-164
Doi: 10.1007/s10549-006-9408-4
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Grünbacher, G; Weger, W; Marx-Neuhold, E; Pilger, E; Köppel, H; Wascher, T; März, W; Renner, W
The fibrinogen gamma (FGG) 10034C>T polymorphism is associated with venous thrombosis.
Thromb Res. 2007; 121(1): 33-36.
Doi: 10.1016/j.thromres.2007.03.007
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Heitzer, E; Lassacher, A; Quehenberger, F; Kerl, H; Wolf, P
UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype.
J Invest Dermatol. 2007; 127(12): 2872-2881.
Doi: 10.1038/sj.jid.5700923
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Huppertz, B; Abe, E; Murthi, P; Nagamatsu, T; Szukiewicz, D; Salafia, C
Placental angiogenesis, maternal and fetal vessels--a workshop report.
Placenta. 2007; 28 Suppl A(4):S94-S96
Doi: 10.1016/j.placenta.2007.01.015
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Kidd, M; Modlin, IM; Pfragner, R; Eick, GN; Champaneria, MC; Chan, AK; Camp, RL; Mane, SM
Small bowel carcinoid (enterochromaffin cell) neoplasia exhibits transforming growth factor-beta1-mediated regulatory abnormalities including up-regulation of C-Myc and MTA1.
CANCER. 2007; 109(12): 2420-2431.
Doi: 10.1002/cncr.22725
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Kidd, M; Nadler, B; Mane, S; Eick, G; Malfertheiner, M; Champaneria, M; Pfragner, R; Modlin, I
GeneChip, geNorm, and gastrointestinal tumors: novel reference genes for real-time PCR.
PHYSIOL GENOMICS. 2007; 30(3): 363-370.
Doi: 10.1152/physiolgenomics.00251.2006
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Körner, H; Epanchintsev, A; Berking, C; Schuler-Thurner, B; Speicher, MR; Menssen, A; Hermeking, H
Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma.
CELL CYCLE. 2007; 6(2): 189-198.
Doi: 10.4161/cc.6.2.3733
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Kumperscak, HG; Plesnicar, BK; Zalar, B; Gradisnik, P; Seruga, T; Paschke, E
Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
Psychiatr Genet. 2007; 17(2):85-91
Doi: 10.1097/YPG.0b013e3280298280
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Mach, M; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E
Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
GENET COUNSEL. 2007; 18(1): 9-16.
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Mignon-Ravix, C; Depetris, D; Luciani, JJ; Cuoco, C; Krajewska-Walasek, M; Missirian, C; Collignon, P; Delobel, B; Croquette, MF; Moncla, A; Kroisel, PM; Mattei, MG
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Eur J Hum Genet. 2007; 15(4):432-440
Doi: 10.1038/sj.ejhg.5201775
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Miltenberger-Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer-Grumbach, M; Löscher, WN
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol. 2007; 64(7):966-970
Doi: 10.1001/archneur.64.7.966
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Nohara, A; Kawashiri, MA; Claudel, T; Mizuno, M; Tsuchida, M; Takata, M; Katsuda, S; Miwa, K; Inazu, A; Kuipers, F; Kobayashi, J; Koizumi, J; Yamagishi, M; Mabuchi, H
High frequency of a retinoid X receptor gamma gene variant in familial combined hyperlipidemia that associates with atherogenic dyslipidemia.
Arterioscler Thromb Vasc Biol. 2007; 27(4): 923-928.
Doi: 10.1161/01.ATV.0000258945.76141.8a
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Oliveira, JR; Sobrido, MJ; Spiteri, E; Hopfer, S; Meroni, G; Petek, E; Baquero, M; Geschwind, DH
Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification (Fahr's disease).
J Mol Neurosci. 2007; 33(2): 151-154.
Doi: 10.1007/s12031-007-0030-7
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Rabenau, HF; Kessler, HH; Kortenbusch, M; Steinhorst, A; Raggam, RB; Berger, A
Verification and validation of diagnostic laboratory tests in clinical virology.
J Clin Virol. 2007; 40(2): 93-98.
Doi: 10.1016/j.jcv.2007.07.009
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Renner, W; Hoffmann, MM; Grünbacher, G; Winkelmann, BR; Boehm, BO; März, W
G-protein beta3 subunit (GNB3) gene polymorphisms and cardiovascular disease: the Ludwigshafen Risk and Cardiovascular Health (LURIC) study.
Atherosclerosis. 2007; 192(1):108-112
Doi: 10.1016/j.atherosclerosis.2006.07.001
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Roetzer, KM; Varga, F; Zwettler, E; Nawrot-Wawrzyniak, K; Haller, J; Forster, E; Klaushofer, K
Novel PHEX mutation associated with hypophosphatemic rickets
NEPHRON PHYSIOL. 2007; 106(1): 8-12.
Doi: 10.1159/000101487
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Rohde, E; Bartmann, C; Schallmoser, K; Reinisch, A; Lanzer, G; Linkesch, W; Guelly, C; Strunk, D
Immune cells mimic the morphology of endothelial progenitor colonies in vitro.
Stem Cells. 2007; 25(7): 1746-1752.
Doi: 10.1634/stemcells.2006-0833
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Schick, B; Wemmert, S; Bechtel, U; Nicolai, P; Hofmann, T; Golabek, W; Urbschat, S
Comprehensive genomic analysis identifies MDM2 and AURKA as novel amplified genes in juvenile angiofibromas.
Head Neck. 2007; 29(5):479-487
Doi: 10.1002/hed.20535
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Schwarzbraun, T; Ofner, L; Gillessen-Kaesbach, G; Schaperdoth, B; Preisegger, KH; Windpassinger, C; Wagner, K; Petek, E; Kroisel, PM
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Am J Med Genet A. 2007; 143(6): 619-624.
Doi: 10.1002/ajmg.a.31627
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Seil, I; Frei, C; Sültmann, H; Knauer, SK; Engels, K; Jäger, E; Zatloukal, K; Pfreundschuh, M; Knuth, A; Tseng-Chen, Y; Jungbluth, AA; Stauber, RH; Jäger, D
The differentiation antigen NY-BR-1 is a potential target for antibody-based therapies in breast cancer.
INT J CANCER. 2007; 120(12): 2635-2642.
Doi: 10.1002/ijc.22620
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Steenkiste, A; Valdes, AM; Feolo, M; Hoffman, D; Concannon, P; Noble, J; Schoch, G; Hansen, J; Helmberg, W; Dorman, JS; Thomson, G; Pugliese, A; 13th IHWS 1 Diabetes Component participating investigators
14th International HLA and Immunogenetics Workshop: report on the HLA component of type 1 diabetes.
Tissue Antigens. 2007; 69 Suppl 1(5):214-225
Doi: 10.1111/j.1399-0039.2006.00772.x
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Uhrig, S; Schlembach, D; Waldispuehl-Geigl, J; Schaffer, W; Geigl, J; Klopocki, E; Mundlos, S; Speicher, MR
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Am J Hum Genet. 2007; 81(4): 866-868.
Doi: 10.1086/521338
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Urban, C; Weinhäusel, A; Fritsch, P; Sovinz, P; Weinhandl, G; Lackner, H; Moritz, A; Haas, OA
Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).
J Pediatr Endocrinol Metab. 2007; 20(2): 247-252.
Doi: 10.1515/JPEM.2007.20.2.247
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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 (NBS) due to maternal isodisomy of chromosome 8.
Am J Med Genet A. 2007; 143(1): 92-94.
Doi: 10.1002/ajmg.a.31540
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Weger, M; Renner, W; Steinbrugger, I; Köfer, K; Wedrich, A; Groselj-Strele, A; El-Shabrawi, Y; Schmut, O; Haas, A
Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a Central European population.
Mol Vis. 2007; 13(4): 1274-1279.
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Weger, W; Hofer, A; Wolf, P; El-Shabrawi, Y; Renner, W; Kerl, H; Salmhofer, W
The angiotensin-converting enzyme insertion/deletion and the endothelin -134 3A/4A gene polymorphisms in patients with chronic plaque psoriasis.
Exp Dermatol. 2007; 16(12): 993-998.
Doi: 10.1111/j.1600-0625.2007.00620.x
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Zebisch, A; Czernilofsky, AP; Keri, G; Smigelskaite, J; Sill, H; Troppmair, J
Signaling through RAS-RAF-MEK-ERK: from basics to bedside.
Curr Med Chem. 2007; 14(5): 601-623.
Doi: 10.2174/092986707780059670
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2006
Auer-Grumbach, M; Mauko, B; Auer-Grumbach, P; Pieber, TR
Molecular genetics of hereditary sensory neuropathies.
NEUROMOL MED. 2006; 8(1-2): 147-158.
Doi: 10.1385/NMM:8:1:147
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Bandbon Balenga, NA; Thalhamer, J; Weiss, R
Bicistronic expression plasmid encoding allergen and anti-IgE single chain variable fragment antibody as a novel DNA vaccine for allergy therapy and prevention.
Med Hypotheses. 2006; 67(1): 71-74.
Doi: 10.1016/j.mehy.2005.12.044
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Beetz, C; Nygren, AO; Schickel, J; Auer-Grumbach, M; Bürk, K; Heide, G; Kassubek, J; Klimpe, S; Klopstock, T; Kreuz, F; Otto, S; Schüle, R; Schöls, L; Sperfeld, AD; Witte, OW; Deufel, T
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
Neurology. 2006; 67(11):1926-1930
Doi: 10.1212/01.wnl.0000244413.49258.f5
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Brücher, BL; Geddert, H; Langner, C; Höfler, H; Fink, U; Siewert, JR; Sarbia, M
Hypermethylation of hMLH1, HPP1, p14(ARF), p16(INK4A) and APC in primary adenocarcinomas of the small bowel.
Int J Cancer. 2006; 119(6): 1298-1302.
Doi: 10.1002/ijc.21990
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Burwick, RM; Ramsay, PP; Haines, JL; Hauser, SL; Oksenberg, JR; Pericak-Vance, MA; Schmidt, S; Compston, A; Sawcer, S; Cittadella, R; Savettieri, G; Quattrone, A; Polman, CH; Uitdehaag, BM; Zwemmer, JN; Hawkins, CP; Ollier, WE; Weatherby, S; Enzinger, C; Fazekas, F; Schmidt, H; Schmidt, R; Hillert, J; Masterman, T; Hogh, P; Niino, M; Kikuchi, S; Maciel, P; Santos, M; Rio, ME; Kwiecinski, H; Zakrzewska-Pniewska, B; Evangelou, N; Palace, J; Barcellos, LF
APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers.
NEUROLOGY. 2006; 66(9): 1373-1383.
Doi: 10.1212/01.wnl.0000210531.19498.3f
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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
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El-Shabrawi, Y; Wegscheider, BJ; Weger, M; Renner, W; Posch, U; Ulrich, S; Ardjomand, N; Hermann, J
Polymorphisms within the tumor necrosis factor-alpha promoter region in patients with HLA-B27-associated uveitis: association with susceptibility and clinical manifestations.
OPHTHALMOLOGY. 2006; 113(4): 695-700.
Doi: 10.1016/j.ophtha.2006.01.004
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Fargnoli, MC; Argenziano, G; Zalaudek, I; Peris, K
High- and low-penetrance cutaneous melanoma susceptibility genes.
EXPERT REV ANTICANCER THER. 2006; 6: 657-670.
Doi: 10.1586/14737140.6.5.657
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Fauth, C; Gribble, SM; Porter, KM; Codina-Pascual, M; Ng, BL; Kraus, J; Uhrig, S; Leifheit, J; Haaf, T; Fiegler, H; Carter, NP; Speicher, MR
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Hum Genet. 2006; 119(1-2):145-153
Doi: 10.1007/s00439-005-0103-z
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Fazekas, F; Enzinger, C; Ropele, S; Schmidt, H; Schmidt, R; Strasser-Fuchs, S
The impact of our genes: consequences of the apolipoprotein E polymorphism in Alzheimer disease and multiple sclerosis.
J NEUROL SCI. 2006; 245(1-2): 35-39.
Doi: 10.1016/j.jns.2005.08.018
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Grammer, TB; Renner, W; von Karger, S; Boehm, BO; Winkelmann, BR; Maerz, W
The angiotensin-I converting enzyme I/D polymorphism is not associated with type 2 diabetes in individuals undergoing coronary angiography. (The Ludwigshafen Risk and Cardiovascular Health Study).
Mol Genet Metab. 2006; 88(4):378-383
Doi: 10.1016/j.ymgme.2006.01.008
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Ivkovic, A; Pascher, A; Hudetz, D; Jelic, M; Haspl, M; Windhager, R; Pecina, M
Current concepts in gene therapy of the musculoskeletal system.
Acta Chir Orthop Traumatol Cech. 2006; 73(2): 115-122.
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