Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2003

  2. MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma.

    Du, J., Miller, A. J., Widlund, H. R., Horstmann, M., Ramaswamy, S. & Fisher, D. E., 2003, In: AM J PATHOL. 163, 1, p. 333-343 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

    Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R. & FitzPatrick, D. R., 2003, In: HUM MUTAT. 22, 4, p. 288-300 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Models of fetal growth restriction.

    Schröder, P. D., 2003, In: EUR J OBSTET GYN R B. 110, 1, p. 29-39 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

    Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M. J., Salvatore, L. V., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J. & Klaerke, D., 2003, In: J AM SOC NEPHROL. 14, 11, p. 2873-2882 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Multicenter evaluation of the performance characteristics of the NucliSens HIV-1 QT assay used for quantitation of human immunodeficiency virus type 1 RNA.

    Ginocchio, C. C., Kemper, M. J., Stellrecht, K. A. & Witt, D. J., 2003, In: J CLIN MICROBIOL. 41, 1, p. 164-173 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

    Storch, S., Wittenstein, B., Islam, R., Ullrich, K., Sly, W. S. & Braulke, T., 2003, In: HUM GENET. 112, 2, p. 190-194 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Natural killer deficiency: a minor or major factor in the manifestation of hemophagocytic lymphohistiocytosis?

    Schneider, E. M., Lorenz, I., Walther, P. & Janka-Schaub, G., 2003, In: J PEDIAT HEMATOL ONC. 25, 9, p. 680-683 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Neuropsychologic side-effects of tacrolimus in pediatric renal transplantation.

    Kemper, M. J., Spartà, G., Laube, G. F., Miozzari, M. & Neuhaus, T. J., 2003, In: CLIN TRANSPLANT. 17, 2, p. 130-134 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.

    Claviez, A., Horst, H-A., Santer, R. & Suttorp, M., 2003, In: ANN HEMATOL. 82, 4, p. 251-253 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

    Santer, R., Muhle, H., Suormala, T., Baumgartner, E. R., Duran, M., Yang, X., Aoki, Y., Suzuki, Y. & Stephani, U., 2003, In: MOL GENET METAB. 79, 3, p. 160-166 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Patient stratification based on prednisolone-vincristine-asparaginase resistance profiles in children with acute lymphoblastic leukemia.

    Den, B., Harms, U., Pieters, R., Kazemier, U., Gobel, U., Körholz, D., Graubner, U., Haas, U., Jorch, N., Spaar, U., Kaspers, U., Kamps, U., Does, V. D., Berg, V. D., Wering, V., Janka-Schaub, G. & Janka-Schaub, U., 2003, In: J CLIN ONCOL. 21, 17, p. 3262-3268 17.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Pressure pulses and flow velocities in central veins of the anesthetized sheep fetus.

    Schröder, P. D., Tchirikov, M. & Rybakowski, C., 2003, In: AM J PHYSIOL-HEART C. 284, 4, p. 1205-1211 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. [Protective factors for mental health of children and adolescents--empirical results validating a concept]

    Bettge, S. & Ravens-Sieberer, U., 2003, In: GESUNDHEITSWESEN. 65, 3, p. 167-172 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).

    Udo, Z. S., Kabisch, H., Janka-Schaub, G. & Schneider, E. M., 2003, In: Med Pediatr Oncol. 41, 1, p. 26-29 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Resistance to different classes of drugs is associated with impaired apoptosis in childhood acute lymphoblastic leukemia.

    Holleman, A., Boer, D., Monique, L., Janka-Schaub, G., Janka-Schaub, G. E. & Pieters, R., 2003, In: BLOOD. 102, 13, p. 4541-4546 13.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Sensitivity to L-asparaginase is not associated with expression levels of asparagine synthetase in t(12;21)+ pediatric ALL.

    Stams, U., Wendy, A. G., Den, B., Monique, L., Beverloo, U., Berna, H., Meijerink, U., Jules, P. P., Stigter, U., Rolinda, L., Wering, V., Elisabeth, R., Janka-Schaub, G., Gritta, E., Slater, U., Rosalyn, U., Pieters, U. & Rob, U., 2003, In: BLOOD. 101, 7, p. 2743-2747 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.

    Ericson, K. G., Fadeel, B., Andersson, M., Gudmundsson, G. H., Gürgey, A., Yalman, N., Janka-Schaub, G., Nordenskjöld, M. & Henter, J-I., 2003, In: HUM GENET. 112, 1, p. 98-99 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Severe acute abdominal pain in idiopathic nephrotic syndrome.

    Neuhaus, T. J. & Kemper, M. J., 2003, In: PEDIATR NEPHROL. 18, 3, p. 304 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

    Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K. & Lukacs, Z., 2003, In: J INHERIT METAB DIS. 26, 7, p. 713-714 2 p., 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

    Santer, R., Fingerhut, R., Lässker, U., Wightman, P. J., Fitzpatrick, D. R., Olgemöller, B. & Roscher, A. A., 2003, In: CLIN CHEM. 49, 4, p. 660-662 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Thioguanine offers no advantage over mercaptopurine in maintenance treatment of childhood ALL: results of the randomized trial COALL-92.

    Harms, D. O., Göbel, U., Spaar, H. J., Graubner, U. B., Jorch, N., Gutjahr, P. & Janka-Schaub, G., 2003, In: BLOOD. 102, 8, p. 2736-2740 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Unmet health care needs and impact on families with children with disabilities in Germany.

    Thyen, U., Sperner, J., Morfeld, M., Meyer, C. & Ravens-Sieberer, U., 2003, In: AMBUL PEDIATR. 3, 2, p. 74-81 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

    Schneppenheim, R., Ulrich, B., Oyen, F., Angerhaus, D., Aumann, V., Drewke, E., Hassenpflug, W., Häberle, J., Kentouche, K., Kohne, E., Kurnik, K., Müller-Wiefel, D. E., Obser, T., Santer, R. & Sykora, K-W., 2003, In: BLOOD. 101, 5, p. 1845-1850 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. 2002

  26. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

    Muntau, A. C., Röschinger, W., Habich, M., Demmelmair, H., Hoffmann, B., Sommerhoff, C. P. & Roscher, A. A., 26.12.2002, In: NEW ENGL J MED. 347, 26, p. 2122-32 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons

    Michelson, P., Hartwig, C., Schachner, M., Gal, A., Veske, A., Finckh, U. & Petersen, C., 12.2002, In: HUM MUTAT. 20, 6, p. 481-2 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism

    Neu, A., Neuhoff, H., Trube, G., Fehr, S., Ullrich, K., Roeper, J. & Isbrandt, D., 01.11.2002, In: NEUROBIOL DIS. 11, 2, p. 298-307 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Circulating inhibitor of gonadotropin releasing hormone secretion by hypothalamic neurons in uremia

    Daschner, M., Philippin, B., Nguyen, T., Wiesner, R. J., Walz, C., Oh, J., Sandow, J., Mehls, O. & Schaefer, F., 11.2002, In: KIDNEY INT. 62, 5, p. 1582-90 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

    Maier, E. M., Kammerer, S., Muntau, A. C., Wichers, M., Braun, A. & Roscher, A. A., 11.2002, In: ANN NEUROL. 52, 5, p. 683-8 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Autophagocytosis of the apical membrane in microvillus inclusion disease

    Reinshagen, K., Naim, H. Y. & Zimmer, K-P., 10.2002, In: GUT. 51, 4, p. 514-21 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. Beta-catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor

    Widlund, H. R., Horstmann, M. A., Price, E. R., Cui, J., Lessnick, S. L., Wu, M., He, X. & Fisher, D. E., 16.09.2002, In: J CELL BIOL. 158, 6, p. 1079-87 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. 11 hemophilia A patients without mutations in the factor VIII encoding gene

    Klopp, N., Oldenburg, J., Uen, C., Schneppenheim, R. & Graw, J., 01.08.2002, In: THROMB HAEMOSTASIS. 88, 2, p. 357-60 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

    Taanman, J-W., Kateeb, I., Muntau, A. C., Jaksch, M., Cohen, N. & Mandel, H., 08.2002, In: ANN NEUROL. 52, 2, p. 237-9 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Advanced coronary and carotid arteriopathy in young adults with childhood-onset chronic renal failure

    Oh, J., Wunsch, R., Turzer, M., Bahner, M., Raggi, P., Querfeld, U., Mehls, O. & Schaefer, F., 02.07.2002, In: CIRCULATION. 106, 1, p. 100-5 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. A large-scale method for T cell depletion: towards graft engineering of mobilized peripheral blood stem cells

    Gordon, P. R., Leimig, T., Mueller, I., Babarin-Dorner, A., Holladay, M. A., Houston, J., Kerst, G., Geiger, T. & Handgretinger, R., 07.2002, In: BONE MARROW TRANSPL. 30, 2, p. 69-74 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease

    Preuss, N., Brosius, U., Biermanns, M., Muntau, A. C., Conzelmann, E. & Gartner, J., 06.2002, In: PEDIATR RES. 51, 6, p. 706-14 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Laboratory diagnosis of congenital von Willebrand disease

    Budde, U., Drewke, E., Mainusch, K. & Schneppenheim, R., 01.04.2002, In: SEMIN THROMB HEMOST. 28, 2, p. 173-90 18 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Congenital epulis: a rare diagnosis in paediatric surgery

    Reinshagen, K., Wessel, L. M., Roth, H. & Waag, K-L., 04.2002, In: EUR J PEDIATR SURG. 12, 2, p. 124-6 3 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly

    Mayerhofer, P. U., Kattenfeld, T., Roscher, A. A. & Muntau, A. C., 15.03.2002, In: BIOCHEM BIOPH RES CO. 291, 5, p. 1180-6 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Age-related reference values for serum selenium concentrations in infants and children

    Muntau, A. C., Streiter, M., Kappler, M., Röschinger, W., Schmid, I., Rehnert, A., Schramel, P. & Roscher, A. A., 03.2002, In: CLIN CHEM. 48, 3, p. 555-60 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. I(h) channels contribute to the different functional properties of identified dopaminergic subpopulations in the midbrain

    Neuhoff, H., Neu, A., Liss, B. & Roeper, J., 15.02.2002, In: J NEUROSCI. 22, 4, p. 1290-302 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma

    Kentouche, K., Budde, U., Furlan, M., Scharfe, V., Schneppenheim, R. & Zintl, F., 01.01.2002, In: ACTA PAEDIATR. 91, 10, p. 1056-9 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.

    Odièvre, M. H., Lombès, A., Dessemme, P., Santer, R., Brivet, M., Chevallier, B., Lagardère, B. & Odièvre, M., 2002, In: J INHERIT METAB DIS. 25, 5, p. 379-384 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. Assessment of cardiac output, intravascular volume status, and extravascular lung water by transpulmonary indicator dilution in critically ill neonates and infants.

    Schiffmann, H., Erdlenbruch, B., Singer, D., Singer, S., Herting, E., Hoeft, A. & Buhre, W., 2002, In: J CARDIOTHOR VASC AN. 16, 5, p. 592-597 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. [Assessment of psychological health and quality of life with The Child and Adolescent Health Survey]

    Ravens-Sieberer, U., Hölling, H., Bettge, S. & Wietzker, A., 2002, In: GESUNDHEITSWESEN. 64, 1, p. 30-35 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. Asymptomatic intracardiac thrombus in steroid-sensitive nephrotic syndrome.

    Weisz, W., Kemper, M. J., Weil, J. & Müller-Wiefel, D. E., 2002, In: PEDIATR NEPHROL. 17, 4, p. 287-289 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability.

    McGill, G. G., Horstmann, M., Widlund, H. R., Du, J., Motyckova, G., Nishimura, E. K., Lin, Y-L., Ramaswamy, S., Avery, W., Ding, H-F., Jordan, S. A., Jackson, I. J., Korsmeyer, S. J., Golub, T. R. & Fisher, D. E., 2002, In: CELL. 109, 6, p. 707-718 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Cardiac failure in an infant with Chediak-Higashi syndrome: a hypothesis of the effect of diadenosine polyphosphates.

    Ganschow, R., Grabhorn, E., Lemke, J. & Lepler, R., 2002, In: PEDIAT ALLERG IMM-UK. 13, 4, p. 307-310 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

    Valianpour, F., Wanders, R. J. A., Overmars, H., Vreken, P., Gennip, V., Albert, H., Baas, F., Santer, R., Santer, R., Becker, K. & Barth, P. G., 2002, In: J PEDIATR-US. 141, 5, p. 729-733 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. Cholelithiasis in pediatric organ transplantation: detection and management.

    Ganschow, R., 2002, In: PEDIATR TRANSPLANT. 6, 2, p. 91-96 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  52. Comparative yield of HCV RNA testing in blood donors screened by 2.0 versus 3.0 antibody assays.

    Galel, S. A., Strong, D. M., Tegtmeier, G. E., Holland, P. V., Kuramoto, I. K., Kemper, M. J., Pietrelli, L. & Gallarda, J., 2002, In: TRANSFUSION. 42, 11, p. 1507-1513 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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