Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: FEMALE - GENETICS , . Treffer: 223
2015
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Web of Science
PubMed
FullText
FullText_MUG
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.
[OPEN ACCESS]
Web of Science
PubMed
Google Scholar
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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.
[OPEN ACCESS]
Web of Science
PubMed
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
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
Obermayer-Pietsch, B
Genetics of osteoporosis.
Wien Med Wochenschr. 2006; 156(5-6): 162-167.
Doi: 10.1007/s10354-005-0249-2
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
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
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Schneider, J; Ruschhaupt, M; Buness, A; Asslaber, M; Regitnig, P; Zatloukal, K; Schippinger, W; Ploner, F; Poustka, A; Sültmann, H
Identification and meta-analysis of a small gene expression signature for the diagnosis of estrogen receptor status in invasive ductal breast cancer.
Int J Cancer. 2006; 119(12):2974-2979
Doi: 10.1002/ijc.22234
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Tarpey, P; Thomas, S; Sarvananthan, N; Mallya, U; Lisgo, S; Talbot, CJ; Roberts, EO; Awan, M; Surendran, M; McLean, RJ; Reinecke, RD; Langmann, A; Lindner, S; Koch, M; Jain, S; Woodruff, G; Gale, RP; Degg, C; Droutsas, K; Asproudis, I; Zubcov, AA; Pieh, C; Veal, CD; Machado, RD; Backhouse, OC; Baumber, L; Constantinescu, CS; Brodsky, MC; Hunter, DG; Hertle, RW; Read, RJ; Edkins, S; O'Meara, S; Parker, A; Stevens, C; Teague, J; Wooster, R; Futreal, PA; Trembath, RC; Stratton, MR; Raymond, FL; Gottlob, I
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
NAT GENET. 2006; 38(11): 1242-1244.
Doi: 10.1038/ng1893
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Todt, I; Hennies, HC; Küster, W; Smolle, J; Rademacher, G; Mutze, S; Basta, D; Eisenschenk, A; Ernst, A
Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
Audiol Neurootol. 2006; 11(4):242-248
Doi: 10.1159/000093110
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
2005
Drexler, C; Glock, B; Vadon, M; Staudacher, E; Dauber, EM; Ulrich, S; Reisacher, RB; Mayr, WR; Lanzer, G; Wagner, T
Tetragametic chimerism detected in a healthy woman with mixed-field agglutination reactions in ABO blood grouping.
TRANSFUSION. 2005; 45(5): 698-703.
Doi: 10.1111/j.1537-2995.2005.04304.x
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Einspieler, C; Kerr, AM; Prechtl, HF
Is the early development of girls with Rett disorder really normal?
PEDIAT RES. 2005; 57(5 Pt 1): 696-700.
Doi: 10.1203/01.PDR.0000155945.94249.0A
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Halbwedl, I; Ullmann, R; Kremser, ML; Man, YG; Isadi-Moud, N; Lax, S; Denk, H; Popper, HH; Tavassoli, FA; Moinfar, F
Chromosomal alterations in low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma as detected by comparative genomic hybridization.
GYNECOL ONCOL. 2005; 97: 582-587.
Doi: 10.1016/j.ygyno.2005.01.002
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
Harrison, RE; Berger, R; Haworth, SG; Tulloh, R; Mache, CJ; Morrell, NW; Aldred, MA; Trembath, RC
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.
CIRCULATION. 2005; 111(4): 435-441.
Doi: 10.1161/01.CIR.0000153798.78540.87
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Hrzenjak, A; Moinfar, F; Tavassoli, FA; Strohmeier, B; Kremser, ML; Zatloukal, K; Denk, H
JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue.
J MOL DIAGN. 2005; 7(3): 388-395.
Doi: 10.1016/S1525-1578(10)60568-5
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
Langsenlehner, U; Hofmann, G; Samonigg, H; Krippl, P; Renner, W; Clar, H
Cyclin D1 genotype and breast cancer metastasis.
CANCER EPIDEM BIOMARKER PREV. 2005; 14: 1844-1845.
Doi: 10.1158/1055-9965.EPI-05-0204
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Quehenberger, F; Vasen, HF; van Houwelingen, HC
Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.
J Med Genet. 2005; 42(6):491-496
Doi: 10.1136/jmg.2004.024299
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
Reich, O; Regauer, S
Endometrial stromal sarcoma--observational evidence of a genetic background?
Eur J Gynaecol Oncol. 2005; 26(3):288-290
Web of Science
PubMed
Roze, E; Paschke, E; Lopez, N; Eck, T; Yoshida, K; Maurel-Ollivier, A; Doummar, D; Caillaud, C; Galanaud, D; Billette de Villemeur, T; Vidailhet, M; Roubergue, A
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Mov Disord. 2005; 20(10):1366-1369
Doi: 10.1002/mds.20593
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Singer, G; Schalamon, J; Ainoedhofer, H; Petek, E; Kroisel, PM; Höllwarth, ME
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
J PEDIAT SURG. 2005; 40(11): e47-e50.
Doi: 10.1016/j.jpedsurg.2005.07.048
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Weger, M; Renner, W; Steinbrugger, I; Cichocki, L; Temmel, W; Stanger, O; El-Shabrawi, Y; Lechner, H; Schmut, O; Haas, A
Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.
OPHTHALMOLOGY. 2005; 112(11): 1910-1915.
Doi: 10.1016/j.ophtha.2005.05.019
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
Weitere 50 Treffer anzeigen