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Results: 1-25 | 26-38
Results: 1-25/38
Intracellular apolipoprotein E affects amyloid precursor protein processing and amyloid A beta production in COS-1 cells
Authors: Hass, S Weidemann, A Utermann, G Baier, G
Citation: S. Hass et al., Intracellular apolipoprotein E affects amyloid precursor protein processing and amyloid A beta production in COS-1 cells, MOL GENET G, 265(5), 2001, pp. 791-800
Molecular genetics of type 1 glycogen storage disease
Authors: Janecke, AR Mayatepek, E Utermann, G
Citation: Ar. Janecke et al., Molecular genetics of type 1 glycogen storage disease, MOL GEN MET, 73(2), 2001, pp. 117-125
Mutations in the human DHCR7 gene
Authors: Witsch-Baumgartner, M Loffler, J Utermann, G
Citation: M. Witsch-baumgartner et al., Mutations in the human DHCR7 gene, HUM MUTAT, 17(3), 2001, pp. 172-182
Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization
Authors: Verdorfer, I Hobisch, A Culig, Z Hittmair, A Bartsch, G Erdel, M Duba, HC Utermann, G
Citation: I. Verdorfer et al., Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization, INT J ONCOL, 19(6), 2001, pp. 1263-1270
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
Authors: Loffler, J Nekahm, D Hirst-Stadlmann, A Gunther, B Menzel, HJ Utermann, G Janecke, AR
Citation: J. Loffler et al., Sensorineural hearing loss and the incidence of Cx26 mutations in Austria, EUR J HUM G, 9(3), 2001, pp. 226-230
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Authors: Witsch-Raumgartner, M Ciara, E Loffler, J Menzel, HJ Seedorf, U Burn, J Gillessen-Kaesbach, G Hoffmann, GF Fitzy, BU Mundy, H Clayton, P Kelley, RI Krajewska-Walasek, M Utermann, G
Citation: M. Witsch-raumgartner et al., Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations, EUR J HUM G, 9(1), 2001, pp. 45-50
Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians
Authors: Ogorelkova, M Kraft, HG Ehnholm, C Utermann, G
Citation: M. Ogorelkova et al., Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians, HUM MOL GEN, 10(8), 2001, pp. 815-824
Protein kinase C isoenzyme: selective expression pattern of protein kinaseC-theta during mouse development
Authors: Wilda, M Ghaffari-Tabrizi, N Reisert, I Utermann, G Baier, G Hameister, H
Citation: M. Wilda et al., Protein kinase C isoenzyme: selective expression pattern of protein kinaseC-theta during mouse development, MECH DEVEL, 103(1-2), 2001, pp. 197-200
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss
Authors: Janecke, AR Nekahm, D Loffler, J Hirst-Stadlmann, A Muller, T Utermann, G
Citation: Ar. Janecke et al., De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss, HUM GENET, 108(3), 2001, pp. 269-270
Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder
Authors: Witsch-Baumgartner, M Loeffler, J Menzel, HJ Utermann, G Neuhaus, C
Citation: M. Witsch-baumgartner et al., Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder, AM J MED G, 102(1), 2001, pp. 106-107
High-resolution mapping of the human 4q21 and the mouse 5E3 SCYB chemokinecluster by fiber-fluorescence in situ hybridization
Authors: Erdel, M Theurl, M Meyer, M Duba, HC Utermann, G Werner-Felmayer, G
Citation: M. Erdel et al., High-resolution mapping of the human 4q21 and the mouse 5E3 SCYB chemokinecluster by fiber-fluorescence in situ hybridization, IMMUNOGENET, 53(7), 2001, pp. 611-615
Split hand/split foot malformation associated with sensorineural deafness,inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3
Authors: Haberlandt, E Loffler, J Hirst-Stadlmann, A Stockl, B Judmaier, W Fischer, H Heinz-Erian, P Muller, T Utermann, G Smith, RJH Janecke, AR
Citation: E. Haberlandt et al., Split hand/split foot malformation associated with sensorineural deafness,inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3, J MED GENET, 38(6), 2001, pp. 405-409
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family
Authors: Janecke, AR Unsinn, K Kreczy, A Baldissera, I Gassner, I Neu, N Utermann, G Muller, T
Citation: Ar. Janecke et al., Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family, J MED GENET, 38(4), 2001, pp. 265-269
Lipoprotein(a) in homozygous familial hypercholesterolemia
Authors: Kraft, HG Lingenhel, A Raal, FJ Hohenegger, M Utermann, G
Citation: Hg. Kraft et al., Lipoprotein(a) in homozygous familial hypercholesterolemia, ART THROM V, 20(2), 2000, pp. 522-528
Hypermetaphase and interphase fluorescence in situ hybridisation for monitoring of remission status in Philadelphia chromosome positive chronic myeloid leukaemia
Authors: Duba, HC Hilbe, W Mehringer, A Erdel, M Thaler, J Utermann, G
Citation: Hc. Duba et al., Hypermetaphase and interphase fluorescence in situ hybridisation for monitoring of remission status in Philadelphia chromosome positive chronic myeloid leukaemia, INT J ONCOL, 17(6), 2000, pp. 1245-1249
Mutation analysis in glycogen storage disease type 1 non-a
Authors: Janecke, AR Lindner, M Erdel, M Mayatepek, E Moslinger, D Podskarbi, T Fresser, F Stockler-Ipsiroglu, S Hoffmann, GF Utermann, G
Citation: Ar. Janecke et al., Mutation analysis in glycogen storage disease type 1 non-a, HUM GENET, 107(3), 2000, pp. 285-289
Lipoprotein(A) determination and risk of cardiovascular disease in South African patients with familial hypercholesterolaemia
Authors: Scholtz, CL Lingenhel, A Hillermann, R Stander, IA Kriek, JA Marais, MP Odendaal, HJ Kraft, HG Utermann, G Kotze, MJ
Citation: Cl. Scholtz et al., Lipoprotein(A) determination and risk of cardiovascular disease in South African patients with familial hypercholesterolaemia, S AFR MED J, 90(4), 2000, pp. 374-378
Homozygosity for the W151X stop mutation in the Delta 7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis
Authors: Loffler, J Trojovsky, A Casati, B Kroisel, PM Utermann, G
Citation: J. Loffler et al., Homozygosity for the W151X stop mutation in the Delta 7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis, AM J MED G, 95(2), 2000, pp. 174-177
Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)
Authors: Loffler, J Utermann, B Duba, HC Mayr, U Utermann, G Erdel, M
Citation: J. Loffler et al., Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7), AM J MED G, 91(4), 2000, pp. 291-297
Mapping of a minimal apolipoprotein(a) interaction motif conserved in fibrin(ogen) beta- and gamma-chains
Authors: Klose, R Fresser, F Kochl, S Parson, W Kapetanopoulos, A Fruchart-Najib, J Baier, G Utermann, G
Citation: R. Klose et al., Mapping of a minimal apolipoprotein(a) interaction motif conserved in fibrin(ogen) beta- and gamma-chains, J BIOL CHEM, 275(49), 2000, pp. 38206-38212
T cell expressed PKC theta demonstrates cell-type selective function
Authors: Bauer, B Krumbock, N Ghaffari-Tabrizi, N Kampfer, S Villunger, A Wilda, M Hameister, H Utermann, G Leitges, M Uberall, F Baier, G
Citation: B. Bauer et al., T cell expressed PKC theta demonstrates cell-type selective function, EUR J IMMUN, 30(12), 2000, pp. 3645-3654
Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
Authors: Witsch-Baumgartner, M Fitzky, BU Ogorelkova, M Kraft, HG Moebius, FF Glossmann, H Seedorf, U Gillessen-Kaesbach, G Hoffmann, GF Clayton, P Kelley, RI Utermann, G
Citation: M. Witsch-baumgartner et al., Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome, AM J HU GEN, 66(2), 2000, pp. 402-412
Counting the repetitive kringle-IV repeats in the gene encoding human apolipoprotein(a) by fibre-FISH
Authors: Erdel, M Hubalek, M Lingenhel, A Kofler, K Duba, HC Utermann, G
Citation: M. Erdel et al., Counting the repetitive kringle-IV repeats in the gene encoding human apolipoprotein(a) by fibre-FISH, NAT GENET, 21(4), 1999, pp. 357-358
Monitoring of remission status by fluorescence in situ hybridisation in chronic myeloid leukaemia patients treated with interferon-alpha
Authors: Duba, HC Peter, S Hilbe, W Fluckinger, T Fridrik, M Erdel, M Thaler, J Utermann, G
Citation: Hc. Duba et al., Monitoring of remission status by fluorescence in situ hybridisation in chronic myeloid leukaemia patients treated with interferon-alpha, INT J ONCOL, 14(1), 1999, pp. 145-150
Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease
Authors: Kronenberg, MF Menzel, HJ Ebersbach, G Wenning, GK Luginger, E Gollner, M Ransmayr, G Utermann, G Poewe, W Kronenberg, F
Citation: Mf. Kronenberg et al., Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease, EUR J HUM G, 7(3), 1999, pp. 397-400
Risultati: 1-25 | 26-38