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

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Publikationen

Suchbegriffe: CHROMOSOMES, HUMAN, PAIR 17 - GENETICS , . Treffer: 16

2017

Singer, CF; Tan, YY; Fitzal, F; Steger, GG; Egle, D; Reiner, A; Rudas, M; Moinfar, F; Gruber, C; Petru, E; Bartsch, R; Tendl, KA; Fuchs, D; Seifert, M; Exner, R; Balic, M; Bago-Horvath, Z; Filipits, M; Gnant, M; Austrian Breast and Colorectal Cancer Study Group Pathological Complete Response to Neoadjuvant Trastuzumab Is Dependent on HER2/CEP17 Ratio in HER2-Amplified Early Breast Cancer.
Clin Cancer Res. 2017; 23(14):3676-3683 Doi: 10.1158/1078-0432.CCR-16-2373 [OPEN ACCESS]
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2016

Gellner, V; Tomazic, PV; Lohberger, B; Meditz, K; Heitzer, E; Mokry, M; Koele, W; Leithner, A; Liegl-Atzwanger, B; Rinner, B Establishment of clival chordoma cell line MUG-CC1 and lymphoblastoid cells as a model for potential new treatment strategies.
Sci Rep. 2016; 6(7):24195-24195 Doi: 10.1038/srep24195 [OPEN ACCESS]
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2014

Al Kaissi, A; Ganger, R; Rötzer, KM; Klaushofer, K; Grill, F A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
Am J Med Genet A. 2014; 164A(9):2338-2343 Doi: 10.1002/ajmg.a.36614 (- Case Report)
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2012

Freudenberger, P; Schmidt, R; Schmidt, H Genetics of age-related white matter lesions from linkage to genome wide association studies.
J Neurol Sci. 2012; 322(1-2):82-86 Doi: 10.1016/j.jns.2012.06.016 [OPEN ACCESS]
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Ikram, MA; Fornage, M; Smith, AV; Seshadri, S; Schmidt, R; Debette, S; Vrooman, HA; Sigurdsson, S; Ropele, S; Taal, HR; Mook-Kanamori, DO; Coker, LH; Longstreth, WT; Niessen, WJ; DeStefano, AL; Beiser, A; Zijdenbos, AP; Struchalin, M; Jack, CR; Rivadeneira, F; Uitterlinden, AG; Knopman, DS; Hartikainen, AL; Pennell, CE; Thiering, E; Steegers, EA; Hakonarson, H; Heinrich, J; Palmer, LJ; Jarvelin, MR; McCarthy, MI; Grant, SF; St Pourcain, B; Timpson, NJ; Smith, GD; Sovio, U; Early Growth Genetics Consortium; Nalls, MA; Au, R; Hofman, A; Gudnason, H; van der Lugt, A; Harris, TB; Meeks, WM; Vernooij, MW; van Buchem, MA; Catellier, D; Jaddoe, VW; Gudnason, V; Windham, BG; Wolf, PA; van Duijn, CM; Mosley, TH; Schmidt, H; Launer, LJ; Breteler, MM; DeCarli, C; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium Common variants at 6q22 and 17q21 are associated with intracranial volume.
Nat Genet. 2012; 44(5):539-544 Doi: 10.1038/ng.2245 [OPEN ACCESS]
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2011

Fornage, M; Debette, S; Bis, JC; Schmidt, H; Ikram, MA; Dufouil, C; Sigurdsson, S; Lumley, T; DeStefano, AL; Fazekas, F; Vrooman, HA; Shibata, DK; Maillard, P; Zijdenbos, A; Smith, AV; Gudnason, H; de Boer, R; Cushman, M; Mazoyer, B; Heiss, G; Vernooij, MW; Enzinger, C; Glazer, NL; Beiser, A; Knopman, DS; Cavalieri, M; Niessen, WJ; Harris, TB; Petrovic, K; Lopez, OL; Au, R; Lambert, JC; Hofman, A; Gottesman, RF; Garcia, M; Heckbert, SR; Atwood, LD; Catellier, DJ; Uitterlinden, AG; Yang, Q; Smith, NL; Aspelund, T; Romero, JR; Rice, K; Taylor, KD; Nalls, MA; Rotter, JI; Sharrett, R; van Duijn, CM; Amouyel, P; Wolf, PA; Gudnason, V; van der Lugt, A; Boerwinkle, E; Psaty, BM; Seshadri, S; Tzourio, C; Breteler, MM; Mosley, TH; Schmidt, R; Longstreth, WT; DeCarli, C; Launer, LJ Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium.
Ann Neurol. 2011; 69(6): 928-939. Doi: 10.1002/ana.22403 [OPEN ACCESS]
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2010

Jakubiczka, S; Schroder, C; Ullmann, R; Volleth, M; Ledig, S; Gilberg, E; Kroisel, P; Wieacker, P Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
SEX DEV. 2010; 4(3): 143-149. Doi: 10.1159/000302403 [OPEN ACCESS]
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2009

Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344. Doi: 10.1136/jmg.2008.064972 (- Case Report) [OPEN ACCESS]
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2008

Merkel, O; Heyder, C; Asslaber, D; Hamacher, F; Tinhofer, I; Holler, C; Stöcher, M; Prokesch, A; Papak, C; Scheideler, M; Trajanoski, Z; Greil, R Arsenic trioxide induces apoptosis preferentially in B-CLL cells of patients with unfavourable prognostic factors including del17p13.
J Mol Med (Berl). 2008; 86(5): 541-552. Doi: 10.1007/s00109-008-0314-6
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2006

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]
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2003

Häberle, J; Schmidt, E; Pauli, S; Kreuder, JG; Plecko, B; Galler, A; Wermuth, B; Harms, E; Koch, HG Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Hum Mutat. 2003; 21(6):593-597 Doi: 10.1002/humu.10216
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2002

Martin, CL; Waggoner, DJ; Wong, A; Uhrig, S; Roseberry, JA; Hedrick, JF; Pack, SD; Russell, K; Zackai, E; Dobyns, WB; Ledbetter, DH Molecular rulers for calibrating phenotypic effects of telomere imbalance.
J Med Genet. 2002; 39(10):734-740 Doi: 10.1136/jmg.39.10.734 (- Case Report) [OPEN ACCESS]
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2000

Moinfar, F; Man, YG; Arnould, L; Bratthauer, GL; Ratschek, M; Tavassoli, FA Concurrent and independent genetic alterations in the stromal and epithelial cells of mammary carcinoma: implications for tumorigenesis.
Cancer Res. 2000; 60(9):2562-2566 [OPEN ACCESS]
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Moinfar, F; Man, YG; Bratthauer, GL; Ratschek, M; Tavassoli, FA Genetic abnormalities in mammary ductal intraepithelial neoplasia-flat type (clinging ductal carcinoma in situ): a simulator of normal mammary epithelium.
Cancer. 2000; 88(9):2072-2081 Doi: 10.1002%2F%28SICI%291097-0142%2820000501%2988%3A9%3C2072%3A%3AAID-CNCR13%3E3.0.CO%3B2-H [OPEN ACCESS]
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1999

Auer-Grumbach, M; Wagner, K; Payer, F; Hartung, HP Proximal Charcot-Marie-Tooth syndrome with duplication on chromosome 17p11.2.
Ann N Y Acad Sci. 1999; 883(1):469-471 Doi: 10.1111/j.1749-6632.1999.tb08613.x (- Case Report)
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1998

Auer-Grumbach, M; Strasser-Fuchs, S; Wagner, K; Körner, E; Fazekas, F Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
J Neurol Sci. 1998; 154(1):72-75 Doi: 10.1016/S0022-510X(97)00218-9 (- Case Report)
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