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

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Publikationen

Suchbegriffe: MOLECULAR SEQUENCE DATA - GENETICS , . Treffer: 66

2007

Körmöczi, GF; Wagner, T; Jungbauer, C; Vadon, M; Ahrens, N; Moll, W; Mühlbacher, A; Ozgül-Gülce, S; Kleinrath, T; Kilga-Nogler, S; Schönitzer, D; Gassner, C Genetic diversity of KELnull and KELel: a nationwide Austrian survey.
Transfusion. 2007; 47(4): 703-714. Doi: 10.1111/j.1537-2995.2007.01174.x
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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 [OPEN ACCESS]
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2006

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]
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Wakula, P; Beullens, M; van Eynde, A; Ceulemans, H; Stalmans, W; Bollen, M The translation initiation factor eIF2beta is an interactor of protein phosphatase-1.
Biochem J. 2006; 400(2): 377-383. Doi: 10.1042/BJ20060758 [OPEN ACCESS]
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2005

Casarosa, P; Waldhoer, M; LiWang, PJ; Vischer, HF; Kledal, T; Timmerman, H; Schwartz, TW; Smit, MJ; Leurs, R CC and CX3C chemokines differentially interact with the N terminus of the human cytomegalovirus-encoded US28 receptor.
J BIOL CHEM. 2005; 280: 3275-3285. Doi: 10.1074/jbc.M407536200 [OPEN ACCESS]
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Hosseini-Maaf, B; Irshaid, NM; Hellberg, A; Wagner, T; Levene, C; Hustinx, H; Steffensen, R; Chester, MA; Olsson, ML New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
Transfusion. 2005; 45(1):70-81 Doi: 10.1111/j.1537-2995.2005.04195.x
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2004

Chen, YZ; Bennett, CL; Huynh, HM; Blair, IP; Puls, I; Irobi, J; Dierick, I; Abel, A; Kennerson, ML; Rabin, BA; Nicholson, GA; Auer-Grumbach, M; Wagner, K; De Jonghe, P; Griffin, JW; Fischbeck, KH; Timmerman, V; Cornblath, DR; Chance, PF DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Am J Hum Genet. 2004; 74(6):1128-1135 Doi: 10.1086/421054 [OPEN ACCESS]
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Evgrafov, OV; Mersiyanova, I; Irobi, J; Van Den Bosch, L; Dierick, I; Leung, CL; Schagina, O; Verpoorten, N; Van Impe, K; Fedotov, V; Dadali, E; Auer-Grumbach, M; Windpassinger, C; Wagner, K; Mitrovic, Z; Hilton-Jones, D; Talbot, K; Martin, JJ; Vasserman, N; Tverskaya, S; Polyakov, A; Liem, RK; Gettemans, J; Robberecht, W; De Jonghe, P; Timmerman, V Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet. 2004; 36(6):602-606 Doi: 10.1038/ng1354 [OPEN ACCESS]
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Koehler, R; Grünig, E; Pauciulo, MW; Hoeper, MM; Olschewski, H; Wilkens, H; Halank, M; Winkler, J; Ewert, R; Bremer, H; Kreuscher, S; Janssen, B; Nichols, WC Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.
J Med Genet. 2004; 41(12):e127-e127 Doi: 10.1136/jmg.2004.023101 [OPEN ACCESS]
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Raghunath, M; Tontsidou, L; Oji, V; Aufenvenne, K; Schürmeyer-Horst, F; Jayakumar, A; Ständer, H; Smolle, J; Clayman, GL; Traupe, H SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
J Invest Dermatol. 2004; 123(3):474-483 Doi: 10.1111/j.0022-202X.2004.23220.x [OPEN ACCESS]
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Runte, M; Kroisel, PM; Gillessen-Kaesbach, G; Varon, R; Horn, D; Cohen, MY; Wagstaff, J; Horsthemke, B; Buiting, K SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
HUM GENET. 2004; 114(6): 553-561. Doi: 10.1007/s00439-004-1104-z
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2003

Fragaki, K; Ferrua, B; Mograbi, B; Waldispuhl, J; Kubar, J A novel Leishmania infantum nuclear phosphoprotein Lepp12 which stimulates IL1-beta synthesis in THP-1 transfectants.
BMC MICROBIOL. 2003; 3(2): 7-7. Doi: 10.1186/1471-2180-3-7 [OPEN ACCESS]
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Gorkiewicz, G; Feierl, G; Schober, C; Dieber, F; Köfer, J; Zechner, R; Zechner, EL Species-specific identification of campylobacters by partial 16S rRNA gene sequencing.
J Clin Microbiol. 2003; 41(6):2537-2546 Doi: 10.1128%2FJCM.41.6.2537-2546.2003 [OPEN ACCESS]
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Lee, MJ; Stephenson, DA; Groves, MJ; Sweeney, MG; Davis, MB; An, SF; Houlden, H; Salih, MA; Timmerman, V; de Jonghe, P; Auer-Grumbach, M; Di Maria, E; Scaravilli, F; Wood, NW; Reilly, MM Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Hum Mol Genet. 2003; 12(15):1917-1925 Doi: 10.1093/hmg/ddg198 [OPEN ACCESS]
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Müller, T; van de Sluis, B; Zhernakova, A; van Binsbergen, E; Janecke, AR; Bavdekar, A; Pandit, A; Weirich-Schwaiger, H; Witt, H; Ellemunter, H; Deutsch, J; Denk, H; Müller, W; Sternlieb, I; Tanner, MS; Wijmenga, C The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
J Hepatol. 2003; 38(2):164-168 Doi: 10.1016%2FS0168-8278%2802%2900356-2
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Pineda Torra, I; Claudel, T; Duval, C; Kosykh, V; Fruchart, JC; Staels, B Bile acids induce the expression of the human peroxisome proliferator-activated receptor alpha gene via activation of the farnesoid X receptor.
Mol Endocrinol. 2003; 17(2):259-272 Doi: 10.1210/me.2002-0120 [OPEN ACCESS]
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Posch, PE; Cruz, I; Bradshaw, D; Medhekar, BA Novel polymorphisms and the definition of promoter 'alleles' of the tumor necrosis factor and lymphotoxin alpha loci: inclusion in HLA haplotypes.
Genes Immun. 2003; 4(8):547-558 Doi: 10.1038/sj.gene.6364023
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Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; Parker-Katiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HH; Pelicci, PG; Lo-Coco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GA; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJ; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC Human chromosome 7: DNA sequence and biology.
Science. 2003; 300(5620):767-772 Doi: 10.1126/science.1083423 [OPEN ACCESS]
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2002

Fröhlich, L; Liu, Z; Beier, DR; Lanske, B Genomic structure and refined chromosomal localization of the mouse Ptch2 gene.
Cytogenet Genome Res. 2002; 97(1-2): 106-110. Doi: 10.1159/000064064
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Kleiter, N; Artner, I; Gmachl, N; Ghaffari-Tabrizi, N; Kratochwil, K Mutagenic transgene insertion into a region of high gene density and multiple linkage disruptions on mouse chromosome 11.
Cytogenet Genome Res. 2002; 97(1-2):100-105 Doi: 10.1159/000064062
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Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.
Gene. 2002; 292(1-2):25-31 Doi: 10.1016/S0378-1119(02)00649-2
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2001

Buzina, W; Lang-Loidolt, D; Braun, H; Freudenschuss, K; Stammberger, H Development of molecular methods for identification of Schizophyllum commune from clinical samples.
J CLIN MICROBIOL. 2001; 39(7): 2391-2396. Doi: 10.1128/JCM.39.7.2391-2396.2001 [OPEN ACCESS]
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Müller, MB; Preil, J; Renner, U; Zimmermann, S; Kresse, AE; Stalla, GK; Keck, ME; Holsboer, F; Wurst, W Expression of CRHR1 and CRHR2 in mouse pituitary and adrenal gland: implications for HPA system regulation.
Endocrinology. 2001; 142(9): 4150-4153. Doi: 10.1210/en.142.9.4150 [OPEN ACCESS]
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Pasqualucci, L; Neumeister, P; Goossens, T; Nanjangud, G; Chaganti, RS; Küppers, R; Dalla-Favera, R Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas.
Nature. 2001; 412(6844):341-346 Doi: 10.1038/35085588
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Petek, E; Windpassinger, C; Vincent, JB; Cheung, J; Boright, AP; Scherer, SW; Kroisel, PM; Wagner, K Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Am J Hum Genet. 2001; 68(4):848-858 Doi: 10.1086/319523 (- Case Report) [OPEN ACCESS]
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Stover, C; Gradl, G; Jentsch, I; Speicher, MR; Wieser, R; Schwaeble, W cDNA cloning, chromosome assignment, and genomic structure of a human gene encoding a novel member of the RBM family.
Cytogenet Cell Genet. 2001; 92(3-4):225-230 Doi: 10.1159/000056908
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Tanner, SM; Austin, JL; Leone, G; Rush, LJ; Plass, C; Heinonen, K; Mrózek, K; Sill, H; Knuutila, S; Kolitz, JE; Archer, KJ; Caligiuri, MA; Bloomfield, CD; de La Chapelle, A BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia.
Proc Natl Acad Sci U S A. 2001; 98(24):13901-13906 Doi: 10.1073/pnas.241525498 [OPEN ACCESS]
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Ulrich, S; Helmberg, W; Wagner, T; Corell, A; Marsh, SG; Lanzer, G A novel HLA-DRB1 sequence, DRB1*11272.
Tissue Antigens. 2001; 57(2):175-176 Doi: 10.1034%2Fj.1399-0039.2001.057002175.x
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2000

Hrzenjak, A; Frank, S; Maderegger, B; Sterk, H; Kostner, GM Apo(a)-kringle IV-type 6: expression in Escherichia coli, purification and in vitro refolding.
Protein Eng. 2000; 13(9):661-666 Doi: 10.1093%2Fprotein%2F13.9.661 [OPEN ACCESS]
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Olipitz, W; Sill, H Genomic structure of the human DNA mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).
HUM MOL GENET 2000 9: 321-321. [OPEN ACCESS]
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Stover, CM; Schleypen, J; Grønlund, J; Speicher, MR; Schwaeble, WJ; Holmskov, U Assignment of CD163B, the gene encoding M160, a novel scavenger receptor, to human chromosome 12p13.3 by in situ hybridization and somatic cell hybrid analysis.
Cytogenet Cell Genet. 2000; 90(3-4):246-247 Doi: 10.1159/000056781
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1999

Petek, E; Kroisel, PM; Schuster, M; Zierler, H; Wagner, K Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
Am J Med Genet. 1999; 84(3):229-232 Doi: 10.1002/(SICI)1096-8628(19990528)84:3<229::AID-AJMG13>3.3.CO;2-K (- Case Report)
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1998

Brinkmann, B; Klintschar, M; Neuhuber, F; Hühne, J; Rolf, B Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.
Am J Hum Genet. 1998; 62(6):1408-1415 Doi: 10.1086/301869 [OPEN ACCESS]
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Dörner, T; Foster, SJ; Brezinschek, HP; Lipsky, PE Analysis of the targeting of the hypermutational machinery and the impact of subsequent selection on the distribution of nucleotide changes in human VHDJH rearrangements.
Immunol Rev. 1998; 162:161-171 Doi: 10.1111/j.1600-065X.1998.tb01439.x
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1997

Brezinschek, HP; Foster, SJ; Brezinschek, RI; Dörner, T; Domiati-Saad, R; Lipsky, PE Analysis of the human VH gene repertoire. Differential effects of selection and somatic hypermutation on human peripheral CD5(+)/IgM+ and CD5(-)/IgM+ B cells.
J Clin Invest. 1997; 99(10):2488-2501 Doi: 10.1172/JCI119433 [OPEN ACCESS]
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Pölzleitner, E; Zechner, EL; Renner, W; Fratte, R; Jauk, B; Högenauer, G; Koraimann, G TraM of plasmid R1 controls transfer gene expression as an integrated control element in a complex regulatory network.
Mol Microbiol. 1997; 25(3): 495-507. Doi: 10.1046/j.1365-2958.1997.4831853.x [OPEN ACCESS]
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1996

Bijl, J; van Oostveen, JW; Kreike, M; Rieger, E; van der Raaij-Helmer, LM; Walboomers, JM; Corte, G; Boncinelli, E; van den Brule, AJ; Meijer, CJ Expression of HOXC4, HOXC5, and HOXC6 in human lymphoid cell lines, leukemias, and benign and malignant lymphoid tissue.
Blood. 1996; 87(5):1737-1745 Doi: 10.1182/blood.V87.5.1737.bloodjournal8751737 [OPEN ACCESS]
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Constantinou Deltas, C; Bashiardes, E; Patsalis, PC; Hadjimarcou, M; Kroisel, PM; Ioannou, PA; Roses, AD; Lee, JE Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.
Cytogenet Cell Genet. 1996; 75(4):230-233 Doi: 10.1159/000134490
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Sill, H; Aguiar, RC; Schmidt, H; Hochhaus, A; Goldman, JM; Cross, NC Mutational analysis of the p15 and p16 genes in acute leukaemias.
BRIT J HAEMATOL. 1996; 92(3): 681-683. Doi: 10.1046%2Fj.1365-2141.1996.340858.x
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1995

Braun, A; Ambach, H; Kammerer, S; Rolinski, B; Stöckler, S; Rabl, W; Gärtner, J; Zierz, S; Roscher, AA Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
Am J Hum Genet. 1995; 56(4):854-861 [OPEN ACCESS]
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Brezinschek, HP; Brezinschek, RI; Lipsky, PE Analysis of the heavy chain repertoire of human peripheral B cells using single-cell polymerase chain reaction.
J Immunol. 1995; 155(1):190-202
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Chetty, R; Cerroni, L; Pulford, K; Giatromanolaki, A; Biddolph, S; Kaklamanis, L; Gatter, K TAL1 gene deletions and TAL1 protein expression in sporadic melanoma.
MELANOMA RES. 1995; 5: 251-254. Doi: 10.1097/00008390-199508000-00007
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Hartmann, A; Rosanelli, G; Blaszyk, H; Cunningham, JM; McGovern, RM; Schroeder, JJ; Schaid, DJ; Kovach, JS; Sommer, SS Novel pattern of P53 mutation in breast cancers from Austrian women.
J Clin Invest. 1995; 95(2):686-689 Doi: 10.1172/JCI117714 [OPEN ACCESS]
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Peris, K; Keller, G; Chimenti, S; Amantea, A; Kerl, H; Höfler, H Microsatellite instability and loss of heterozygosity in melanoma.
J Invest Dermatol. 1995; 105(4):625-628 Doi: 10.1111%2F1523-1747.ep12323809 [OPEN ACCESS]
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Sill, H; Goldman, JM; Cross, NC Homozygous deletions of the p16 tumor-suppressor gene are associated with lymphoid transformation of chronic myeloid leukemia.
Blood. 1995; 85(8):2013-2016 Doi: 10.1182/blood.V85.8.2013.bloodjournal8582013 [OPEN ACCESS]
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Speicher, MR Microsatellite instability in human cancer.
Oncol Res. 1995; 7(6):267-275
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Speicher, MR; Jauch, A; Walt, H; du Manoir, S; Ried, T; Jochum, W; Sulser, T; Cremer, T Correlation of microscopic phenotype with genotype in a formalin-fixed, paraffin-embedded testicular germ cell tumor with universal DNA amplification, comparative genomic hybridization, and interphase cytogenetics.
Am J Pathol. 1995; 146(6):1332-1340 [OPEN ACCESS]
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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
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Stühlinger, M; Rosen, AC; Dobianer, K; Hruza, C; Helmer, H; Kein, M; Koukal, T; Reiner, A; Klein, M; Spona, J HER-2 oncogene is not amplified in primary carcinoma of the fallopian tube. Austrian Cooperative Study Group for Fallopian Tube Carcinoma.
Oncology. 1995; 52(5):397-399 Doi: 10.1159/000227496
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1994

Bentz, M; Cabot, G; Moos, M; Speicher, MR; Ganser, A; Lichter, P; Döhner, H Detection of chimeric BCR-ABL genes on bone marrow samples and blood smears in chronic myeloid and acute lymphoblastic leukemia by in situ hybridization.
Blood. 1994; 83(7):1922-1928 Doi: 10.1182/blood.V83.7.1922.bloodjournal8371922 [OPEN ACCESS]
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