Center for Obstetrics and Pediatrics
Publications
- 2005
Langerhans cell histiocytosis in neonates.
Minkov, M., Prosch, H., Steiner, M., Grois, N., Pötschger, U., Kaatsch, P., Janka-Schaub, G. & Gadner, H., 2005, In: PEDIATR BLOOD CANCER. 45, 6, p. 802-807 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ligands for the peroxisome proliferator-activated receptor-gamma have inhibitory effects on growth of human neuroblastoma cells in vitro.
Valentiner, U., Carlsson, M., Erttmann, R., Hildebrandt, H. & Schumacher, U., 2005, In: TOXICOLOGY. 213, 1-2, p. 157-168 1-2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
Udo, Z. S., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J-I., Kabisch, H., Schneppenheim, R., Nürnberg, P., Janka-Schaub, G. & Hennies, H. C., 2005, In: HUM MOL GENET. 14, 6, p. 827-834 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term outcome in children with relapsed ALL by risk-stratified salvage therapy: results of trial acute lymphoblastic leukemia-relapse study of the Berlin-Frankfurt-Münster Group 87.
Einsiedel, H. G., von Stackelberg, A., Hartmann, R., Fengler, R., Schrappe, M., Janka-Schaub, G., Mann, G., Hählen, K., Göbel, U., Klingebiel, T., Ludwig, W-D. & Henze, G., 2005, In: J CLIN ONCOL. 23, 31, p. 7942-7950 31.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term results of basiliximab induction immunosuppression in pediatric liver transplant recipients.
Ganschow, R., Grabhorn, E., Schulz, A., Alexander, V. H., Rogiers, X. & Burdelski, M., 2005, In: PEDIATR TRANSPLANT. 9, 6, p. 741-745 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term treatment with deferiprone in a L1 veteran.
Meo, A., Ruggeri, A., Rosa, L., Angela, M., Kordes, U., Kordes, U. & Fischer, R., 2005, In: EUR J HAEMATOL. 74, 6, p. 523-525 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.
Kan, H. E., Buse-Pot, T. E., Peco, R., Isbrandt, D., Heerschap, A. & de Haan, A., 2005, In: AM J PHYSIOL-CELL PH. 289, 1, p. 113-119 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
[Measuring health-related quality of life with the SF-8. Normal sample of the German population]
Ellert, U., Lampert, T. & Ravens-Sieberer, U., 2005, In: BUNDESGESUNDHEITSBLA. 48, 12, p. 1330-1337 12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
Hübner, C. A., Senning, A., Orth, U., Zerres, K., Urbach, H., Gal, A. & Rudnik-Schöneborn, S., 2005, In: NEUROSCIENCE. 132, 3, p. 697-701 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Stephan, T., Muschol, N., Reutter, G., Cantz, M., Ullrich, K. & Braulke, T., 2005, In: AM J MED GENET A. 137, 3, p. 235-240 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mucopolysaccharidosis type II in females: case report and review of literature.
Tuschl, K., Gal, A., Paschke, E., Kircher, S. & Bodamer, O. A., 2005, In: PEDIATR NEUROL. 32, 4, p. 270-272 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Myeloablative megatherapy with autologous stem-cell rescue versus oral maintenance chemotherapy as consolidation treatment in patients with high-risk neuroblastoma: a randomised controlled trial.
Berthold, F., Boos, J., Burdach, S., Erttmann, R., Henze, G., Hermann, J., Klingebiel, T., Kremens, B., Schilling, F. H., Schrappe, M., Simon, T. & Hero, B., 2005, In: LANCET ONCOL. 6, 9, p. 649-658 9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Non-transferrin-bound iron during blood transfusion cycles in beta-thalassemia major.
Grosse, R., Lund, U., Caruso, V., Fischer, R., Janka-Schaub, G., Magnano, C., Engelhardt, R., Dürken, M. & Nielsen, P., 2005, In: ANN NY ACAD SCI. 1054, p. 429-432Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
Finckh, U., Kuschel, C., Anagnostouli, M., Patsouris, E., Pantes, G. V., Gatzonis, S., Kapaki, E., Davaki, P., Lamszus, K., Stavrou, D. & Gal, A., 2005, In: NEUROGENETICS. 6, 2, p. 85-89 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Osteosarcoma cell lines display variable individual reactions on wildtype p53 and Rb tumour-suppressor transgenes.
Hellwinkel, O., Müller, J., Pollmann, A. & Kabisch, H., 2005, In: J GENE MED. 7, 4, p. 407-419 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pediatric Fabry disease.
Ries, M., Gupta, S., Moore, D. F., Sachdev, V., Quirk, J. M., Murray, G. J., Rosing, D. R., Robinson, C., Schaefer, E., Gal, A., Dambrosia, J. M., Garman, S. C., Brady, R. O. & Schiffmann, R., 2005, In: PEDIATRICS. 115, 3, p. 344-355 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pediatric transplantation: the Hamburg experience.
Kim, J-S., Grotelüschen, R., Mueller, T., Ganschow, R., Bicak, T., Wilms, C., Mueller, L., Helmke, K., Burdelski, M., Rogiers, X. & Broering, D. C., 2005, In: TRANSPLANTATION. 79, 9, p. 1206-1209 9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Primary hyperoxaluria--the German experience.
Hoppe, B., Latta, K., von Schnakenburg, C. & Kemper, M. J., 2005, In: AM J NEPHROL. 25, 3, p. 276-281 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.
Bolz, H., Ebermann, I. & Gal, A., 2005, In: MOL VIS. 11, p. 929-933Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Psychosocial impact of living-related kidney transplantation on donors and partners.
Neuhaus, T. J., Wartmann, M., Weber, M., Landolt, M. A., Laube, G. F. & Kemper, M. J., 2005, In: PEDIATR NEPHROL. 20, 2, p. 205-209 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice.
Michiel, T. H., Lygate, C. A., Fischer, A., Schneider, J. E., Sang, A. E., Hulbert, K., Sebag-Montefiore, L., Watkins, H., Clarke, K., Isbrandt, D., Wallis, J. & Neubauer, S., 2005, In: CIRCULATION. 111, 19, p. 2477-2485 19.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia.
Meier, M., den Boer, M. L., Hall, A. G., Irving, J. A. E., Passier, M., Minto, L., van Wering, E. R., Janka-Schaub, G. & Pieters, R., 2005, In: LEUKEMIA. 19, 11, p. 1887-1895 11.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.
Harendza, S., Hübner, C. A., Gläser, C., Burdelski, M., Thaiss, F., Hansmann, I., Gal, A. & Stahl, R. A. K., 2005, In: J NEPHROL. 18, 3, p. 312-317 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Resistance to cytarabine and gemcitabine and in vitro selection of transduced cells after retroviral expression of cytidine deaminase in human hematopoietic progenitor cells.
Bardenheuer, W., Lehmberg, K., Rattmann, I., Brueckner, A., Schneider, A., Sorg, U. R., Seeber, S., Moritz, T. & Flasshove, M., 2005, In: LEUKEMIA. 19, 12, p. 2281-2288 12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hübner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., Gouras, P., Heckenlively, J. R., den Hollander, A., Jacobson, S. G., Lewis, R. A., Sieving, P. A., Wissinger, B., Yzer, S., Zrenner, E., Utermann, G. & Gal, A., 2005, In: HUM MOL GENET. 14, 24, p. 3865-3875 24.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Hübner, C. A., Orth, U., Senning, A., Steglich, C., Kohlschütter, A., Korinthenberg, R. & Gal, A., 2005, In: HUM MUTAT. 25, 3, p. 321-322 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.
Lukacs, Z., Dietrich, A., Ganschow, R., Kohlschütter, A. & Kruithof, R., 2005, In: CLIN CHEM LAB MED. 43, 2, p. 141-145 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
S-nitrosothiols modulate G protein-coupled receptor signaling in a reversible and highly receptor-specific manner.
Kokkola, T., Savinainen, J. R., Mönkkönen, K. S., Retamal, M. D. & Laitinen, J. T., 2005, In: BMC CELL BIOL. 6, 1, p. 21 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sox group E gene expression distinguishes different types and maturational stages of glial cells in developing chick and mouse.
Kordes, U., Cheng, Y-C. & Scotting, P. J., 2005, In: DEV BRAIN RES. 157, 2, p. 209-213 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Structural evidence for mechanisms to redistribute hepatic and ductus venosus blood flows in nonhuman primate fetuses.
Tchirikov, M., Schlabritz-Loutsevitch, N. E., Hubbard, G. B., Schröder, P. D. & Nathanielsz, P. W., 2005, In: AM J OBSTET GYNECOL. 192, 4, p. 1146-1152 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance.
Horne, A., Zheng, C., Lorenz, I., Löfstedt, M., Montgomery, S. M., Janka-Schaub, G., Henter, J-I. & Marion Schneider, E., 2005, In: BRIT J HAEMATOL. 129, 5, p. 658-666 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Targeting FLT3 in primary MLL-gene-rearranged infant acute lymphoblastic leukemia.
Stam, R. W., Boer, D., Monique, L., Schneider, P., Horstmann, M., Horstmann, M., Beverloo, H. B., van der Voort, E., Valsecchi, M. G., de Lorenzo, P., Sallan, S. E., Armstrong, S. A. & Pieters, R., 2005, In: BLOOD. 106, 7, p. 2484-2490 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The functional role of cysteines adjacent to the NRY motif of the human MT1 melatonin receptor.
Kokkola, T., Salo, O. M. H., Poso, A. & Laitinen, J. T., 2005, In: J PINEAL RES. 39, 1, p. 1-11 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Perceived Stress Questionnaire (PSQ) reconsidered: validation and reference values from different clinical and healthy adult samples
Fliege, H., Rose, M., Arck, P., Walter, O. B., Kocalevent, R-D., Weber, C. & Klapp, B. F., 2005, In: PSYCHOSOM MED. 67, 1, p. 78-88 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
Lukacs, Z., Keil, A., Kohlschütter, A., Beck, M. & Mengel, E., 2005, In: J INHERIT METAB DIS. 28, 5, p. 803-805 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The seventh international childhood acute lymphoblastic leukemia workshop report: Palermo, Italy, January 29--30, 2005.
Aricó, M., Baruchel, A., Bertrand, Y., Biondi, A., Conter, V., Eden, T., Gadner, H., Gaynon, P., Horibe, K., Hunger, S. P., Janka-Schaub, G., Masera, G., Nachman, J., Pieters, R., Schrappe, M., Schmiegelow, K., Valsecchi, M. G. & Pui, C-H., 2005, In: LEUKEMIA. 19, 7, p. 1145-1152 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Muntau, A., Posselt, H-G., Steinmann, B. & Schneppenheim, R., 2005, In: HUM MUTAT. 25, 6, p. 594 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer, E., Baron, K., Widmer, U., Deegan, P., Neumann, H. P. H., Sunder-Plassmann, G., Johansson, J-O., Whybra, C., Ries, M., Pastores, G. M., Mehta, A., Beck, M. & Gal, A., 2005, In: HUM MUTAT. 25, 4, p. 412 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler).
Grigull, L., Beilken, A., Schrappe, M., Das, A., Luecke, T., Sander, A., Stanulla, M., Rehe, K., Sauer, M., Schmid, H., Welte, K., Lukacs, Z., Gal, A. & Sykora, K. W., 2005, In: BONE MARROW TRANSPL. 35, 3, p. 265-269 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Siintola, E., Topcu, M., Kohlschütter, A., Salonen, T., Joensuu, T., Anttonen, A-K. & Lehesjoki, A-E., 2005, In: CLIN GENET. 68, 2, p. 167-173 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Using competence network collaboration and decision-analytic modeling to assess the cost-effectiveness of interferon alpha-2b plus ribavirin as initial treatment of chronic hepatitis C in Germany.
Siebert, U., Sroczynski, G., Wasem, J., Greiner, W., Ravens-Sieberer, U., Aidelsburger, P., Kurth, B., Bullinger, M., J-Matthias, G. V. D. S., Wong, J. & Rossol, S., 2005, In: EUR J HEALTH ECON.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Validation of the English version of the KINDL generic children's health-related quality of life instrument for an Asian population--results from a pilot test.
Wee, H. L., Lee, W. W. R., Ravens-Sieberer, U., Erhart, M. & Li, S. C., 2005, In: QUAL LIFE RES. 14, 4, p. 1193-1200 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
[Viral infections in pediatric cancer patients]
Schuster, F. R., Simon, A., Laws, H-J., Beutel, K., Groll, A. H., Jäger, G. & Schuster, V., 2005, In: KLIN PADIATR. 217, 1, p. 67-84 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2004
Human gammadelta T cells from G-CSF-mobilized donors retain strong tumoricidal activity and produce immunomodulatory cytokines after clinical-scale isolation
Otto, M., Barfield, R. C., Iyengar, R., Gatewood, J., Müller, I., Holladay, M. S., Houston, J., Leung, W. & Handgretinger, R., 23.12.2004, In: J IMMUNOTHER. 28, 1, p. 73-8 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting
Storch, S., Pohl, S. & Braulke, T., 17.12.2004, In: J BIOL CHEM. 279, 51, p. 53625-34 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bcl-2 expression inversely correlates with tumour cell differentiation in medulloblastoma
Schüller, U., Schober, F., Kretzschmar, H. A. & Herms, J., 10.2004, In: NEUROPATH APPL NEURO. 30, 5, p. 513-21 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
Coenen, M. J. H., van den Heuvel, L. P., Ugalde, C., Ten Brinke, M., Nijtmans, L. G. J., Trijbels, F. J. M., Beblo, S., Maier, E. M., Muntau, A. C. & Smeitink, J. A. M., 10.2004, In: ANN NEUROL. 56, 4, p. 560-4 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)
Licht, C., Stapenhorst, L., Simon, T., Budde, U., Schneppenheim, R. & Hoppe, B., 01.09.2004, In: KIDNEY INT. 66, 3, p. 955-8 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Podocyte migration during nephrotic syndrome requires a coordinated interplay between cathepsin L and alpha3 integrin
Reiser, J., Oh, J., Shirato, I., Asanuma, K., Hug, A., Mundel, T. M., Honey, K., Ishidoh, K., Kominami, E., Kreidberg, J. A., Tomino, Y. & Mundel, P., 13.08.2004, In: J BIOL CHEM. 279, 33, p. 34827-32 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.
Schneppenheim, R., Lenk, H., Obser, T., Oldenburg, J., Oyen, F., Schneppenheim, S., Schwaab, R., Will, K. & Budde, U., 07.2004, In: THROMB HAEMOSTASIS. 92, 1, p. 36-41 6 p., 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review