Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2011

  2. Surgical aspects and outcome of combined liver and kidney transplantation in children.

    Herden, U., Kemper, M. J., Ganschow, R., Klaassen, I., Grabhorn, E., Brinkert, F., Nashan, B. & Fischer, L., 2011, In: TRANSPL INT. 24, 8, p. 805-811 8.

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

  3. Susceptibility to the long-term anxiogenic effects of an acute stressor is mediated by the activation of the glucocorticoid receptors.

    Jakovcevski, M., Schachner, M. & Morellini, F., 2011, In: NEUROPHARMACOLOGY. 61, 8, p. 1297-1305 8.

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

  4. SV40 and p53 as team players in childhood lymphoproliferative disorders.

    Heinsohn, S., Scholz, R. & Kabisch, H., 2011, In: INT J ONCOL. 38, 5, p. 1307-1317 5.

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

  5. Systemic inflammation, cellular influx and up-regulation of ovarian VCAM-1 expression in a mouse model of polycystic ovary syndrome (PCOS).

    Solano, M. E., Sander, V. A., Ho, H., Motta, A. B. & Arck, P., 2011, In: J REPROD IMMUNOL. 92, 1-2, p. 33-44 1-2.

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

  6. Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2.

    Kruse, B. & Gal, A., 2011, In: MUSCLE NERVE. 43, 5, p. 768 5.

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

  7. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

    Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K. & Dobyns, W. B., 2011, In: J MED GENET. 48, 6, p. 396-406 6.

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

  8. The long-term impact of in vitro drug sensitivity on risk stratification and treatment outcome in acute lymphoblastic leukemia of childhood (CoALL 06-97).

    Escherich, G., Troeger, A. F., Gobel, U., Graubner, U., Pekrun, A., Jorch, N., Kaspers, G., Zimmermann, M., Zur Stadt, U., Kazemir, K., Pieters, R., Horstmann, M., Denboer, M. L. & Janka-Schaub, G., 2011, In: HAEMATOLOGICA. 96, 6, p. 854-862 6.

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

  9. The microtubule stabilizer patupilone (epothilone B) is a potent radiosensitizer in medulloblastoma cells.

    Oehler, C., von Bueren, A., André, O., Furmanova, P., Broggini-Tenzer, A., Rutkowski, S., Rutkowski, S., Frei, K., Grotzer, M. A. & Pruschy, M., 2011, In: NEURO-ONCOLOGY. 13, 9, p. 1000-1010 9.

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

  10. The pathophysiology of von Willebrand disease: therapeutic implications.

    Schneppenheim, R., 2011, In: THROMB RES. 128 Suppl 1, p. 3-7

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

  11. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

    Reuser, A. J., Verheijen, F. W., Bali, D., Diggelen, V., Otto, P., Germain, D. P., Lukacs, Z., Lukacs, Z., Mühl, A., Olivova, P., Piraud, M., Wuyts, B., Zhang, K. & Keutzer, J., 2011, In: MOL GENET METAB. 104, 1-2, p. 144-148 1-2.

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

  12. The use of everolimus in pediatric liver transplant recipients: first experience in a single center.

    Nielsen, D., Briem-Richter, A., Sornsakrin, M., Fischer, L., Nashan, B. & Ganschow, R., 2011, In: PEDIATR TRANSPLANT. 15, 5, p. 510-514 5.

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

  13. Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

    Gal, A., Hughes, D. A. & Winchester, B., 2011, In: J INHERIT METAB DIS. 34, 2, p. 509-514 2.

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

  14. Transvesical resection of a mucocele after laparoscopically assisted anorectal pull-through for imperforate anus with rectobulbar urethral fistula.

    Krickhahn, A., Petersen, C. & Ure, B., 2011, In: J PEDIATR SURG. 46, 1, p. 29-31 1.

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

  15. Treatment of young children with localized medulloblastoma by chemotherapy alone: results of the prospective, multicenter trial HIT 2000 confirming the prognostic impact of histology.

    von Bueren, A., von Hoff, K., von Hoff, K., Pietsch, T., Gerber, N. U., Warmuth-Metz, M., Deinlein, F., Zwiener, I., Faldum, A., Fleischhack, G., Benesch, M., Krauss, J., Kuehl, J., Rutkowski, S. & Rutkowski, S., 2011, In: NEURO-ONCOLOGY. 13, 6, p. 669-679 6.

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

  16. Twin-to-twin transfusion syndrome (TTTS)*.

    Baschat, A., Chmait, R. H., Deprest, J., Gratacós, E., Hecher, K., Kontopoulos, E., Quintero, R., Skupski, D. W., Valsky, D. V. & Ville, Y., 2011, In: J PERINAT MED. 39, 2, p. 107-112 2.

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

  17. Type A aortic dissection during late pregnancy in a patient with Marfan syndrome.

    Haas, S., Trepte, C., Rybczynski, M., Somville, T., Treede, H. & Reuter, D., 2011, In: CAN J ANESTH. 58, 11, p. 1024-1028 11.

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

  18. Up to date knowledge on different treatment strategies for phenylketonuria

    Bélanger-Quintana, A., Burlina, A., Harding, C. O. & Muntau, A. C., 2011, In: MOL GENET METAB. 104 Suppl, p. S19-25

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

  19. [Von Willebrand factor and ADAMTS13 balancing primary haemostasis].

    Schneppenheim, R. & Budde, U., 2011, In: HAMOSTASEOLOGIE. 31, 4, p. 275-280 4.

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

  20. von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.

    Schneppenheim, R. & Budde, U., 2011, In: J THROMB HAEMOST. 9 Suppl 1, p. 209-215

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

  21. 2010

  22. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

    Mendelsohn, N. J., Harmatz, P., Bodamer, O., Burton, B. K., Giugliani, R., Jones, S. A., Lampe, C., Malm, G., Steiner, R. D., Parini, R., Hunter Outcome Survey Investigators & Muschol, N. M., 01.12.2010, In: GENET MED. 12, 12, p. 816-22 7 p.

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

  23. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

    Rohr, J., Beutel, K., Maul-Pavicic, A., Vraetz, T., Thiel, J., Warnatz, K., Bondzio, I., Gross-Wieltsch, U., Schündeln, M., Schütz, B., Woessmann, W., Groll, A. H., Strahm, B., Pagel, J., Speckmann, C., Janka-Schaub, G., Griffiths, G., Schwarz, K., Zur Stadt, U. & Ehl, S., 12.2010, In: HAEMATOLOGICA. 95, 12, p. 2080-2087 8 p.

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

  24. Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

    Muntau, A. C. & Gersting, S. W., 12.2010, In: J INHERIT METAB DIS. 33, 6, p. 649-58 10 p.

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

  25. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

    Lagler, F. B., Gersting, S. W., Zsifkovits, C., Steinbacher, A., Eichinger, A., Danecka, M. K., Staudigl, M., Fingerhut, R., Glossmann, H. & Muntau, A. C., 15.11.2010, In: BIOCHEM PHARMACOL. 80, 10, p. 1563-71 9 p.

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

  26. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

    Girisha, K. M., Lewis, L. E., Phadke, S. R. & Kutsche, K., 01.11.2010, In: AM J MED GENET A. 152A, 11, p. 2861-4 4 p.

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

  27. Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

    Thiele, H., du Moulin, M., Barczyk, K., George, C., Schwindt, W., Nürnberg, G., Frosch, M., Kurlemann, G., Roth, J., Nürnberg, P. & Rutsch, F., 11.2010, In: HUM MUTAT. 31, 11, p. E1836-50

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

  28. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

    Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., Bonin, M., Riess, O., Wohlleber, E., Illig, T., Bezzina, C. R., Franke, A., Spranger, S., Villavicencio-Lorini, P., Seifert, W., Rosenfeld, J., Klopocki, E., Rappold, G. A. & Strom, T. M., 11.2010, In: HUM MUTAT. 31, 11, p. E1851-60

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

  29. The impact of bleeding history, von Willebrand factor and PFA-100(®) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD.

    Castaman, G., Tosetto, A., Goodeve, A., Federici, A. B., Lethagen, S., Ulrich, B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Eikenboom, J., Schneppenheim, R., Ingerslev, J., Habart, D., Hill, F., Peake, I. & Rodeghiero, F., 11.2010, In: BRIT J HAEMATOL. 151, 3, p. 245-251 7 p., 3.

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

  30. Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor

    Gersting, S. W., Staudigl, M., Truger, M. S., Messing, D. D., Danecka, M. K., Sommerhoff, C. P., Kemter, K. F. & Muntau, A. C., 01.10.2010, In: J BIOL CHEM. 285, 40, p. 30686-97 12 p.

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

  31. Endocrine controls of primary adult human stem cell biology: thyroid hormones stimulate keratin 15 expression, apoptosis, and differentiation in human hair follicle epithelial stem cells in situ and in vitro

    Tiede, S., Bohm, K., Meier, N., Funk, W. & Paus, R., 10.2010, In: EUR J CELL BIOL. 89, 10, p. 769-77 9 p.

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

  32. Neue Aspekte der MRT-Bildgebung zur Diagnostik der Großgefäßvaskulitiden sowie der primären Angiitis des zentralen Nervensystems

    Saam, T., Habs, M., Cyran, C. C., Grimm, J., Pfefferkorn, T., Schüller, U., Reiser, M. F. & Nikolaou, K., 10.2010, In: RADIOLOGE. 50, 10, p. 861-71 11 p.

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

  33. Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations

    Breuer, C., Oh, J., Molderings, G-J., Schemann, M., Kuch, B., Mayatepek, E. & Adam, R., 14.09.2010, In: WORLD J GASTROENTERO. 16, 34, p. 4363-4366 4 p.

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

  34. Parallel assessment of prolonged neonatal distress by empathy-based and item-based scales

    Garten, L., Deindl, P., Schmalisch, G., Metze, B. & Bührer, C., 01.09.2010, In: EUR J PAIN. 14, 8, p. 878-81 4 p.

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

  35. Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

    Castaman, G., Giacomelli, S. H., Jacobi, P., Obser, T., Budde, U., Rodeghiero, F., Haberichter, S. L. & Schneppenheim, R., 09.2010, In: J THROMB HAEMOST. 8, 9, p. 2011-6 6 p.

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

  36. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

    Hickson, N., Hampshire, D., Winship, P., Goudemand, J., Schneppenheim, R., Budde, U., Castaman, G., Rodeghiero, F., Federici, A. B., James, P., Peake, I., Eikenboom, J., Goodeve, A. & MCMDM-1VWD and ZPMCB-VWD study groups, 09.2010, In: J THROMB HAEMOST. 8, 9, p. 1986-1993 8 p., 9.

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

  37. Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature

    Breuer, C., Paul, H., Zimmermann, A., Braunstein, S., Schaper, J., Mayatepek, E. & Oh, J., 01.08.2010, In: EUR J PEDIATR. 169, 8, p. 1037-40 4 p.

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

  38. Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages

    Pohl, S., Tiede, S., Marschner, K., Encarnação, M., Castrichini, M., Kollmann, K., Muschol, N., Ullrich, K., Müller-Loennies, S. & Braulke, T., 30.07.2010, In: J BIOL CHEM. 285, 31, p. 23936-23944 9 p., 31.

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

  39. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey

    Burton, B. K., Guffon, N., Roberts, J., van der Ploeg, A. T., Jones, S. A., HOS Investigators & Muschol, N. M., 20.07.2010, In: MOL GENET METAB. 101, 2-3, p. 123-9 7 p.

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

  40. Dexamethasone destabilizes Nmyc to inhibit the growth of hedgehog-associated medulloblastoma

    Heine, V. M., Priller, M., Ling, J., Rowitch, D. H. & Schüller, U., 01.07.2010, In: CANCER RES. 70, 13, p. 5220-5 6 p.

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

  41. Novel human parvovirus 4 genotype 3 in infants, Ghana

    Panning, M., Kobbe, R., Vollbach, S., Drexler, J. F., Adjei, S., Adjei, O., Drosten, C., May, J. & Eis-Hubinger, A. M., 01.07.2010, In: EMERG INFECT DIS. 16, 7, p. 1143-6 4 p.

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

  42. A 20-year experience on neonatal extracorporeal membrane oxygenation in a referral center

    Schaible, T., Hermle, D., Loersch, F., Demirakca, S., Reinshagen, K. & Varnholt, V., 07.2010, In: INTENS CARE MED. 36, 7, p. 1229-34 6 p.

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

  43. A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

    Schneppenheim, R., Michiels, J. J., Obser, T., Oyen, F., Pieconka, A., Schneppenheim, S., Will, K., Zieger, B. & Ulrich, B., 10.06.2010, In: BLOOD. 115, 23, p. 4894-4901 8 p., 23.

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

  44. An improved, standardised protocol for the isolation, enrichment and targeted neural differentiation of Nestin+ progenitors from adult human dermis

    Ernst, N., Tiede, S., Tronnier, V., Kruse, C., Zechel, C. & Paus, R., 06.2010, In: EXP DERMATOL. 19, 6, p. 549-55 7 p.

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

  45. Prolactin--a novel neuroendocrine regulator of human keratin expression in situ

    Ramot, Y., Bíró, T., Tiede, S., Tóth, B. I., Langan, E. A., Sugawara, K., Foitzik, K., Ingber, A., Goffin, V., Langbein, L. & Paus, R., 06.2010, In: FASEB J. 24, 6, p. 1768-79 12 p.

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

  46. Sustainability of motor performance after robotic-assisted treadmill therapy in children: an open, non-randomized baseline-treatment study

    Borggraefe, I., Kiwull, L., Schaefer, J. S., Koerte, I., Blaschek, A., Meyer-Heim, A. & Heinen, F., 06.2010, In: EUR J PHYS REHAB MED. 46, 2, p. 125-31 7 p.

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

  47. Giant cell arteritis of the Basal cerebral arteries: correlation of MRI, dsa, and histopathology

    Pfefferkorn, T., Schüller, U., Cyran, C. C., Hüfner, K., Fesl, G., Seelos, K., Dichgans, M., Pfister, H. W., Nikolaou, K., Kretzschmar, H. & Saam, T., 18.05.2010, In: NEUROLOGY. 74, 20, p. 1651-3 3 p.

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

  48. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

    Gersting, S. W., Lagler, F. B., Eichinger, A., Kemter, K. F., Danecka, M. K., Messing, D. D., Staudigl, M., Domdey, K. A., Zsifkovits, C., Fingerhut, R., Glossmann, H., Roscher, A. A. & Muntau, A. C., 15.05.2010, In: HUM MOL GENET. 19, 10, p. 2039-49 11 p.

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

  49. Subacute herpes simplex encephalitis presenting as relapsing encephalitis

    Peters, N., Fesl, G., Theil, D., Schüller, U., Birnbaum, T., Brückmann, H. & Noachtar, S., 05.2010, In: J NEUROL. 257, 5, p. 843-5 3 p.

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

  50. The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations

    Castro, R., Barroso, M., Rocha, M., Esse, R., Ramos, R., Ravasco, P., Rivera, I. & de Almeida, I. T., 05.2010, In: CLIN BIOCHEM. 43, 7-8, p. 645-9 5 p.

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

  51. A FOXO-Pak1 transcriptional pathway controls neuronal polarity

    de la Torre-Ubieta, L., Gaudillière, B., Yang, Y., Ikeuchi, Y., Yamada, T., DiBacco, S., Stegmüller, J., Schüller, U., Salih, D. A., Rowitch, D. H., Brunet, A. & Bonni, A., 15.04.2010, In: GENE DEV. 24, 8, p. 799-813 15 p.

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

  52. Correspondence (letter to the editor): Neurological complications

    Deindl, P. & Varnholt, V., 01.04.2010, In: DTSCH ARZTEBL INT. 107, 13, p. 229; author reply 230

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

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