Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: MALE - GENETICS , . Treffer: 321
2015
Ebner, T; Maurer, M; Oppelt, P; Mayer, RB; Duba, HC; Costamoling, W; Shebl, O
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome.
J Assist Reprod Genet. 2015; 32(6):873-877
Doi: 10.1007/s10815-015-0486-2
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Obermayer-Pietsch, B; Trummer, C; Schwetz, V; Schweighofer, N; Pieber, T
Genetics of insulin resistance in polycystic ovary syndrome.
Curr Opin Clin Nutr Metab Care. 2015; 18(4):401-406
Doi: 10.1097/MCO.0000000000000190
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2012
Elkin, RG; Bauer, R; Schneider, WJ
The restricted ovulator chicken strain: an oviparous vertebrate model of reproductive dysfunction caused by a gene defect affecting an oocyte-specific receptor.
Anim Reprod Sci. 2012; 136(1-2):1-13
Doi: 10.1016/j.anireprosci.2012.10.002
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2009
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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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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Briganti, A; Shariat, SF; Chun, FK; Hutterer, GC; Roehrborn, CG; Gallina, A; Rigatti, P; Valiquette, L; Montorsi, F; Karakiewicz, PI
Differences in the rate of lymph node invasion in men with clinically localized prostate cancer might be related to the continent of origin.
BJU Int. 2007; 100(3):528-532
Doi: 10.1111/j.1464-410X.2007.07005.x
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Falkensammer, B; Doerler, M; Kessler, HH; Puchhammer-Stoeckl, E; Parson, W; Duftner, C; Dierich, MP; Stoiber, H
Subtype and genotypic resistance analysis of HIV-1 infected patients in Austria.
WIEN KLIN WOCHENSCHR. 2007; 119(5-6): 181-185.
Doi: 10.1007/s00508-006-0745-4
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Fiegler, H; Geigl, JB; Langer, S; Rigler, D; Porter, K; Unger, K; Carter, NP; Speicher, MR
High resolution array-CGH analysis of single cells.
Nucleic Acids Res. 2007; 35(3): e15-e15.
Doi: 10.1093/nar/gkl1030
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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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Friedl, G; Turner, RT; Evans, GL; Dobnig, H
Intermittent parathyroid hormone (PTH) treatment and age-dependent effects on rat cancellous bone and mineral metabolism.
J Orthop Res. 2007; 25(11): 1454-1464.
Doi: 10.1002/jor.20433
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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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Gugatschka, M; Hoeller, A; Fahrleitner-Pammer, A; Dobnig, H; Pietschmann, P; Kudlacek, S; Obermayer-Pietsch, B
Calcium supply, bone mineral density and genetically defined lactose maldigestion in a cohort of elderly men.
J Endocrinol Invest. 2007; 30(1): 46-51.
Doi: 10.1007/BF03347395
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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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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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Lackner, A; Raggam, RB; Stammberger, H; Beham, A; Braun, H; Kleinhappl, B; Buzina, W; Kittinger, C; Reinisch, S; Berghold, A; Freudenschuss, K; Barth, S; Marth, E
The role of interleukin-16 in eosinophilic chronic rhinosinusitis.
Eur Arch Otorhinolaryngol. 2007; 264(8): 887-893.
Doi: 10.1007/s00405-007-0300-6
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Long, SH; Berna, MJ; Thill, M; Pace, A; Pradhan, TK; Hoffmann, KM; Serrano, J; Jensen, RT
Secretin-receptor and secretin-receptor-variant expression in gastrinomas: correlation with clinical and tumoral features and secretin and calcium provocative test results.
J Clin Endocrinol Metab. 2007; 92(11): 4394-4402.
Doi: 10.1210/jc.2007-0986
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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.
(- Case Report)
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März, W; Seelhorst, U; Wellnitz, B; Tiran, B; Obermayer-Pietsch, B; Renner, W; Boehm, BO; Ritz, E; Hoffmann, MM
Alanine to serine polymorphism at position 986 of the calcium-sensing receptor associated with coronary heart disease, myocardial infarction, all-cause, and cardiovascular mortality.
J Clin Endocrinol Metab. 2007; 92(6):2363-2369
Doi: 10.1210/jc.2006-0071
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Mensah, AK; De Luca, V; Stachowiak, B; Noor, A; Windpassinger, C; Lam, ST; Kennedy, JL; Scherer, SW; Lo, IF; Vincent, JB
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Schizophr Res. 2007; 95(1-3):228-235
Doi: 10.1016/j.schres.2007.06.011
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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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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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Rohkamm, B; Reilly, MM; Lochmuller, H; Schlotter-Weigel, B; Barisic, N; Schols, L; Laura, M; Janecke, AR; Miltenberger-Miltenyi, G; John, E; Fischer, C; Grill, F; Wakeling, W; Davis, M; Pieber, TR; Auer-Grumbach, M; Nicholson, G; Pareyson, D
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
J NEUROL SCI. 2007; 263(1-2): 100-106.
Doi: 10.1016/j.jns.2007.06.047
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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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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, M; Steinbrugger, I; El-Shabrawi, Y; Wegscheider, BJ; Weger, W; Renner, W; Schmut, O; Haas, A
Haplotype-tagging interleukin-10 promoter polymorphism is associated with reduced risk of retinal artery occlusion.
Mol Vis. 2007; 13(7): 549-552.
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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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2006
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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Codina-Pascual, M; Navarro, J; Oliver-Bonet, M; Kraus, J; Speicher, MR; Arango, O; Egozcue, J; Benet, J
Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes.
Hum Reprod. 2006; 21(6): 1490-1497.
Doi: 10.1093/humrep/del028
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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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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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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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Laimer, M; Klausegger, A; Aberer, W; Oender, K; Steinhuber, M; Lanschuetzer, CM; Wally, V; Hintner, H; Bauer, JW
Haploinsufficiency due to deletion within the 3'-UTR of C1-INH-gene associated with hereditary angioedema.
GENET MED. 2006; 8: 249-254.
Doi: 10.1097/01.gim.0000214302.90076.fa
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Loew, M; Hoffmann, MM; Hahmann, H; Maerz, W; Brenner, H; Rothenbacher, D
Genotype combinations of plasminogen activator inhibitor-1 and angiotensin-converting enzyme genes and risk for early onset of coronary heart disease.
Eur J Cardiovasc Prev Rehabil. 2006; 13(3):449-456
Doi: 10.1097/00149831-200606000-00023
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Mayr, C; Speicher, MR; Kofler, DM; Buhmann, R; Strehl, J; Busch, R; Hallek, M; Wendtner, CM
Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia.
Blood. 2006; 107(2):742-751
Doi: 10.1182/blood-2005-05-2093
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Obermayer-Pietsch, B
Genetics of osteoporosis.
Wien Med Wochenschr. 2006; 156(5-6): 162-167.
Doi: 10.1007/s10354-005-0249-2
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Ofner, L; Raedle, J; Windpassinger, C; Schwarzbraun, T; Kroisel, PM; Wagner, K; Petek, E
Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
J HUM GENET. 2006; 51(2): 141-146.
Doi: 10.1007/s10038-005-0333-x
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Olaussen, KA; Dunant, A; Fouret, P; Brambilla, E; André, F; Haddad, V; Taranchon, E; Filipits, M; Pirker, R; Popper, HH; Stahel, R; Sabatier, L; Pignon, JP; Tursz, T; Le Chevalier, T; Soria, JC; IALT Bio Investigators
DNA repair by ERCC1 in non-small-cell lung cancer and cisplatin-based adjuvant chemotherapy.
N ENGL J MED. 2006; 355: 983-991.
Doi: 10.1056/NEJMoa060570
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Petru, E; Moinfar, F; Graf, S
Regulation of the E2F family: a further step in understanding ovarian cancer biology.
Cancer Biol Ther. 2006; 5(7):777-778
Doi: 10.4161/cbt.5.7.3020
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