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Results: 1-25/27
Authors:
Marquardt, T
Freeze, H
Citation: T. Marquardt et H. Freeze, Congenital disorders of glycosylation: Glycosylation defects in man and biological models for their study, BIOL CHEM, 382(2), 2001, pp. 161-177
Authors:
Lubke, T
Marquardt, T
Etzioni, A
Hartmann, E
von Figura, K
Korner, C
Citation: T. Lubke et al., Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency, NAT GENET, 28(1), 2001, pp. 73-76
Authors:
Rapp, B
Haberle, J
Linnebank, M
Wermuth, B
Marquardt, T
Harms, E
Koch, HG
Citation: B. Rapp et al., Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts, EUR J PED, 160(5), 2001, pp. 283-287
Authors:
Marquardt, T
Pfaff, SL
Citation: T. Marquardt et Sl. Pfaff, Cracking the transcriptional code for cell specification in the neural tube, CELL, 106(6), 2001, pp. 651-654
Authors:
Marquardt, T
Ashery-Padan, R
Andrejewski, N
Scardigli, R
Guillemot, F
Gruss, P
Citation: T. Marquardt et al., Pax6 is required for the multipotent state of retinal progenitor cells, CELL, 105(1), 2001, pp. 43-55
Authors:
Hombach, A
Heuser, C
Marquardt, T
Wieczarkowiecz, A
Groneck, V
Pohl, C
Abken, H
Citation: A. Hombach et al., CD4(+) T cells engrafted with a recombinant immunoreceptor efficiently lyse target cells in a MHC antigen- and Fas-independent fashion, J IMMUNOL, 167(2), 2001, pp. 1090-1096
Authors:
Hombach, A
Wieczarkowiecz, A
Marquardt, T
Heuser, C
Usai, L
Pohl, C
Seliger, B
Abken, H
Citation: A. Hombach et al., Tumor-specific T cell activation by recombinant immunoreceptors: CD3 zeta signaling and CD28 costimulation are simultaneously required for efficient IL-2 secretion and can ge integrated into one combined CD28/CD3 zeta signaling receptor molecule, J IMMUNOL, 167(11), 2001, pp. 6123-6131
Authors:
Kranz, C
Denecke, J
Lehrman, MA
Ray, S
Kienz, P
Kreissel, G
Sagi, D
Peter-Katalinic, J
Freeze, HH
Schmid, T
Jackowski-Dohrmann, S
Harms, E
Marquardt, T
Citation: C. Kranz et al., A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If), J CLIN INV, 108(11), 2001, pp. 1613-1619
Authors:
Luhn, K
Marquardt, T
Harms, E
Vestweber, D
Citation: K. Luhn et al., Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts, BLOOD, 97(1), 2001, pp. 330-332
Authors:
Westphal, V
Schottstadt, C
Marquardt, T
Freeze, HH
Citation: V. Westphal et al., Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic, MOL GEN MET, 70(3), 2000, pp. 219-223
Authors:
Schollen, E
Dorland, L
de Koning, TJ
Van Diggelen, OP
Huijmans, JGM
Marquardt, T
Babovic-Vuksanovic, D
Patterson, M
Imtiaz, F
Winchester, B
Adamowicz, M
Pronicka, E
Freeze, H
Matthijs, G
Citation: E. Schollen et al., Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib), HUM MUTAT, 16(3), 2000, pp. 247-252
Authors:
Homberger, A
Linnebank, M
Winter, C
Willenbring, H
Marquardt, T
Harms, E
Koch, HG
Citation: A. Homberger et al., Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene, EUR J HUM G, 8(9), 2000, pp. 725-729
Authors:
Aebi, M
Helenius, A
Schenk, B
Barone, R
Fiumara, A
Berger, EG
Hennet, T
Imbach, T
Stutz, A
Bjursell, C
Uller, A
Wahlstrom, JG
Briones, P
Cardo, E
Clayton, P
Winchester, B
Cormier-Daire, V
de Lonlay, P
Cuer, M
Dupre, T
Seta, N
de Koning, T
Dorland, L
de Loos, F
Kupers, L
Fabritz, L
Hasilik, M
Marquardt, T
Niehues, R
Freeze, H
Grunewald, S
Heykants, L
Jaeken, J
Matthijs, G
Schollen, E
Keir, G
Kjaergaard, S
Schwartz, M
Skovby, F
Klein, A
Roussel, P
Korner, C
Lubke, T
Thiel, C
von Figura, K
Koscielak, J
Krasnewich, D
Lehle, L
Peters, V
Raab, M
Saether, O
Schachter, H
Van Schaftingen, E
Verbert, A
Vilaseca, A
Wevers, R
Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Authors:
Kuwertz-Broking, E
Koch, HG
Marquardt, T
Rossi, R
Helmchen, U
Muller-Hocker, J
Harms, E
Bulla, M
Citation: E. Kuwertz-broking et al., Renal Fanconi syndrome: first sign of partial respiratory chain complex IVdeficiency, PED NEPHROL, 14(6), 2000, pp. 495-498
Authors:
Ashery-Padan, R
Marquardt, T
Zhou, XL
Gruss, P
Citation: R. Ashery-padan et al., Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye, GENE DEV, 14(21), 2000, pp. 2701-2711
Authors:
Linnebank, M
Homberger, A
Nowak-Gottl, U
Marquardt, T
Harms, E
Koch, HG
Citation: M. Linnebank et al., Linkage disequilibrium of the common mutations 677C -> T and 1298A -> C ofthe human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C -> T, 1068C -> T, EUR J PED, 159(6), 2000, pp. 472-473
Authors:
Parfett, CLJ
Marquardt, T
Pilon, R
Citation: Clj. Parfett et al., Promotion of morphological transformation by di-n-butyltin dichloride in C3H/10T1/2 cells: Prediction by prior expression of tumour promoter-responsive genes, FOOD CHEM T, 38(4), 2000, pp. 339-349
Authors:
Linnebank, M
Homberger, A
Rapp, B
Winter, C
Marquardt, T
Harms, E
Koch, HG
Citation: M. Linnebank et al., Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene, J INH MET D, 23(4), 2000, pp. 308-312
Authors:
Weglage, J
Oberwittler, C
Marquardt, T
Schellscheidt, J
von Teeffelen-Heithoff, A
Koch, G
Gerding, H
Citation: J. Weglage et al., Neurological deterioration in adult phenylketonuria, J INH MET D, 23(1), 2000, pp. 83-84
Authors:
Luning, U
Hagen, M
Loffler, F
Marquardt, T
Meynhardt, B
Citation: U. Luning et al., Molecular lamps and molecular golf balls, J INCL P MA, 35(1), 1999, pp. 381-387
Authors:
Luning, U
Marquardt, T
Citation: U. Luning et T. Marquardt, Dendrimer fixed concave pyridine, J PRAK CH C, 341(3), 1999, pp. 222-227
Authors:
Korner, C
Linnebank, M
Koch, HG
Harms, E
von Figura, K
Marquardt, T
Citation: C. Korner et al., Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities, J LEUK BIOL, 66(1), 1999, pp. 95-98
Low-frequency modulation of the 2f(1)-f(2) distortion product otoacoustic emissions in the human ear
Authors:
Scholz, G
Hirschfelder, A
Marquardt, T
Hensel, J
Mrowinski, D
Citation: G. Scholz et al., Low-frequency modulation of the 2f(1)-f(2) distortion product otoacoustic emissions in the human ear, HEARING RES, 130(1-2), 1999, pp. 189-196
Authors:
Korner, C
Knauer, R
Stephani, U
Marquardt, T
Lehle, L
von Figura, K
Citation: C. Korner et al., Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase, EMBO J, 18(23), 1999, pp. 6816-6822
Authors:
Marquardt, T
Brune, T
Luhn, K
Zimmer, KP
Korner, C
Fabritz, L
van der Werft, N
Vormoor, J
Freeze, HH
Louwen, F
Biermann, B
Harms, E
von Figura, K
Vestweber, D
Koch, HG
Citation: T. Marquardt et al., Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism, J PEDIAT, 134(6), 1999, pp. 681-688