Center for Obstetrics and Pediatrics

Publications

  1. 2012
  2. Smac mimetic LBW242 sensitizes XIAP-overexpressing neuroblastoma cells for TNF-α-independent apoptosis.

    Eschenburg, G., Eggert, A., Schramm, A., Lode, H. N. & Hundsdoerfer, P., 2012, In: CANCER RES. 72, 10, p. 2645-2656 10.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. Sonic hedgehog-associated medulloblastoma arising from the cochlear nuclei of the brainstem.

    Grammel, D., Warmuth-Metz, M., von Bueren, A., André, O., Kool, M., Pietsch, T., Kretzschmar, H. A., Rutkowski, S., Rutkowski, S., Pfister, S. M. & Schüller, U., 2012, In: ACTA NEUROPATHOL. 123, 4, p. 601-614 4.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  4. Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.

    Chua, J. J. E., Schob, C., Rehbein, M., Gkogkas, C. G., Richter, D. & Kindler, S., 2012, In: SCI REP-UK. 2, p. 484

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. Targeted therapeutics in treatment of children and young adults with solid tumors: an expert survey and review of the literature.

    Grunewald, T. G. P., Greulich, N., Kontny, U., Frühwald, M., Rutkowski, S., Kordes, U., Scheurlen, W., Schmidt, W., Stachel, D., Metzler, M., Mittler, U., Graf, N., Benesch, M. & Burdach, S., 2012, In: KLIN PADIATR. 224, 3, p. 124-131 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  6. Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly.

    Ganos, C., Münchau, A., Holst, B., Schlüter, G., Gerloff, C. & Uyanik, G., 2012, In: NEUROLOGY. 79, 16, p. 140 16.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

    van Rahden, V., Brand, K., Najm, J., Heeren, J., Heeren, J., Braulke, T., Kutsche, K. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 23, p. 5019-5038 23.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  8. The combination of intrauterine balloon tamponade and the B-Lynch procedure for the treatment of severe postpartum hemorrhage.

    Diemert, A., Ortmeyer, G., Hollwitz, B., Lotz, M., Somville, T., Glosemeyer, P., Diehl, W. & Hecher, K., 2012, In: AM J OBSTET GYNECOL. 206, 1, p. 1-4 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. The influence of gender and sexual hormones on incidence and outcome of chronic kidney disease.

    Kummer, S., von Gersdorff, G., Kemper, M. J. & Oh, J., 2012, In: PEDIATR NEPHROL. 27, 8, p. 1213-1219 8.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  10. The role of the postsynaptic density in the pathology of the fragile X syndrome.

    Kindler, S. & Kreienkamp, H-J., 2012, In: Results Probl Cell Differ. 54, p. 61-80

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  11. The significance of PTEN and AKT aberrations in pediatric T-cell acute lymphoblastic leukemia.

    Zuurbier, L., Petricoin, E. F., Vuerhard, M. J., Calvert, V., Kooi, C., Buijs-Gladdines, J. G. C. A. M., Smits, W. K., Sonneveld, E., Veerman, A. J. P., Kamps, W. A., Horstmann, M., Pieters, R. & Meijerink, J. P. P., 2012, In: HAEMATOLOGICA. 97, 9, p. 1405-1413 9.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  12. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    Kim, H-G., Kim, H-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J-H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O., Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H-H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C-H. & Gusella, J. F., 2012, In: AM J HUM GENET. 91, 1, p. 56-72 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  13. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

    Lorenz, S., Petersen, C., Kordaß, U., Seidel, H., Zenker, M. & Kutsche, K., 2012, In: EUR J MED GENET. 55, 11, p. 615-619 11.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  14. Ultra late onset group B streptococcal sepsis with acute renal failure in a child with urethral obstruction: a case report.

    Freudenstein, D., Reinshagen, K., Petzold, A., Debus, A., Schroten, H. & Tenenbaum, T., 2012, In: J MED CASE REP. 6, p. 68

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. Unerwartete Schulprobleme und Wesensveränderung

    Kohlschütter, A., Bley, A., Meyer-Osores, A. & Hartmann, M., 2012, In: Neuropäd Klin Prax. 11, 3, p. 126-127 3.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  16. Urinary proteome analysis to exclude severe vesicoureteral reflux.

    Drube, J., Schiffer, E., Lau, E., Petersen, C., Kirschstein, M., Kemper, M. J., Lichtinghagen, R., Ure, B., Mischak, H., Pape, L. & Ehrich, J. H. H., 2012, In: PEDIATRICS. 129, 2, p. 356-363 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  17. (Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation.

    Höcker, B., Böhm, S., Fickenscher, H., Küsters, U., Schnitzler, P., Pohl, M., John, U., Kemper, M. J., Fehrenbach, H., Wigger, M., Holder, M., Schröder, M., Feneberg, R., Köpf-Shakib, S. & Tönshoff, B., 2012, In: TRANSPL INT. 25, 7, p. 723-731 7.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  18. Variant alleles of cytokine genes influence risk and clinical course of Langerhans cell histiocytosis.

    Lehrnbecher, T., Salzmann-Manrique, E., Soerensen, J., Beutel, K., Janka-Schaub, G., Gadner, H. & Minkov, M., 2012, In: BRIT J HAEMATOL. 156, 1, p. 138-141 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  19. Vascular limb occlusion in twin-twin transfusion syndrome (TTTS): case series and literature review.

    Schrey, S., Huber, A., Hecher, K., Quintero, R., Alkazaleh, F., Moise, K. J., Allbert, J. R., Schneider, C., Palermo, M., Yinon, Y., Chmait, R. H., Windrim, R. & Ryan, G., 2012, In: AM J OBSTET GYNECOL. 207, 2, p. 1-10 2.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  20. Vascular programming in twins: the effects of chorionicity and fetal therapy for twin-to-twin transfusion syndrome

    Gardinera, HM., Barlasa, A., Matsuia, H., Diemert, A., Taylor, MJO., Preece, J., Gordon, F., Greenwald, SE. & Hecher, K., 2012, In: J DEV ORIG HLTH DIS. 3, 03, p. 182-189 03.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  21. Von Ärzten, Ärztinnen und "Müttern in der Medizin"

    Rothe, K., Wonneberger, C., Deutschbein, J., Pöge, K., Gedrose, B., Alfermann, D. & Kromark, K., 2012, Einfach Spitze?: Neue Geschlechterperspektiven auf Karrieren in der Wissenschaft. Campus-Verlag, p. 312-334 23 p.

    Research output: SCORING: Contribution to book/anthologySCORING: Contribution to collected editions/anthologiesResearchpeer-review

  22. Werner Syndrom - eine prototypische Form der segmentalen Progerie

    Lessel, D., Oshima, J. & Kubisch, C., 2012, In: MED GENET-BERLIN. 24, 4, p. 262-267 6 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  23. Zerebrale Bildgebung bei angeborenen Stoffwechselfehlern - Eine pädiatrische Annäherung

    Kohlschütter, A. & Löbel, U., 2012, In: MONATSSCHR KINDERH. 160, 8, p. 742-749 8.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  24. 2011
  25. Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex

    Vizoso Pinto, M. G., Pothineni, V. R., Haase, R., Woidy, M., Lotz-Havla, A. S., Gersting, S. W., Muntau, A. C., Haas, J., Sommer, M., Arvin, A. M. & Baiker, A., 02.12.2011, In: J PROTEOME RES. 10, 12, p. 5374-82 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  26. Thyrotropin-releasing hormone selectively stimulates human hair follicle pigmentation

    Gáspár, E., Nguyen-Thi, K. T., Hardenbicker, C., Tiede, S., Plate, C., Bodó, E., Knuever, J., Funk, W., Bíró, T. & Paus, R., 12.2011, In: J INVEST DERMATOL. 131, 12, p. 2368-77 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  27. Expression of FoxM1 is required for the proliferation of medulloblastoma cells and indicates worse survival of patients

    Priller, M., Pöschl, J., Abrão, L., von Bueren, A. O., Cho, Y-J., Rutkowski, S., Kretzschmar, H. A. & Schüller, U., 01.11.2011, In: CLIN CANCER RES. 17, 21, p. 6791-801 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  28. Regulation der primären Hämostase durch von-Willebrand-Faktor und ADAMTS13

    Schneppenheim, R. & Budde, U., 01.11.2011, In: HAMOSTASEOLOGIE. 31, 4, p. 275-80 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  29. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

    Hartig, M. B., Iuso, A., Haack, T., Kmiec, T., Jurkiewicz, E., Heim, K., Roeber, S., Tarabin, V., Dusi, S., Krajewska-Walasek, M., Jozwiak, S., Hempel, M., Winkelmann, J., Elstner, M., Oexle, K., Klopstock, T., Mueller-Felber, W., Gasser, T., Trenkwalder, C., Tiranti, V., Kretzschmar, H., Schmitz, G., Strom, T. M., Meitinger, T. & Prokisch, H., 07.10.2011, In: AM J HUM GENET. 89, 4, p. 543-50 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  30. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course

    Groeschel, S., Kehrer, C., Engel, C., I Dali, C., Bley, A., Steinfeld, R., Grodd, W. & Krägeloh-Mann, I., 10.2011, In: J INHERIT METAB DIS. 34, 5, p. 1095-102 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  31. Stimulation of the calcium-sensing receptor stabilizes the podocyte cytoskeleton, improves cell survival, and reduces toxin-induced glomerulosclerosis

    Oh, J., Beckmann, J., Bloch, J., Hettgen, V., Mueller, J., Li, L., Hoemme, M., Gross, M-L., Penzel, R., Mundel, P., Schaefer, F. & Schmitt, C. P., 01.09.2011, In: KIDNEY INT. 80, 5, p. 483-92 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  32. Preventive antireflux surgery in neonates with congenital diaphragmatic hernia: a single-blinded prospective study.

    Maier, S., Zahn, K., Wessel, L. M., Schaible, T., Brade, J. & Reinshagen, K., 08.2011, In: J PEDIATR SURG. 46, 8, p. 1510-1515 6 p., 8.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  33. Severe alterations of cerebellar cortical development after constitutive activation of Wnt signaling in granule neuron precursors

    Lorenz, A., Deutschmann, M., Ahlfeld, J., Prix, C., Koch, A., Smits, R., Fodde, R., Kretzschmar, H. A. & Schüller, U., 08.2011, In: MOL CELL BIOL. 31, 16, p. 3326-38 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  34. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

    Staudigl, M., Gersting, S. W., Danecka, M. K., Messing, D. D., Woidy, M., Pinkas, D., Kemter, K. F., Blau, N. & Muntau, A. C., 01.07.2011, In: HUM MOL GENET. 20, 13, p. 2628-41 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  35. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

    Muschol, N., Pohl, S., Meyer, A., Gal, A., Ullrich, K. & Braulke, T., 07.2011, In: AM J MED GENET A. 155A, 7, p. 1634-1639 6 p., 7.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  36. Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

    du Moulin, M., Nürnberg, P., Crow, Y. J. & Rutsch, F., 28.06.2011, In: P NATL ACAD SCI USA. 108, 26, p. E232; author reply E233

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  37. Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

    Lindner, M., Gramer, G., Haege, G., Fang-Hoffmann, J., Schwab, K. O., Tacke, U., Trefz, F. K., Mengel, E., Wendel, U., Leichsenring, M., Burgard, P. & Hoffmann, G. F., 20.06.2011, In: ORPHANET J RARE DIS. 6, p. 44

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  38. Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)

    Burton, B. K., Whiteman, D. A. H., HOS Investigators & Muschol, N. M., 01.06.2011, In: MOL GENET METAB. 103, 2, p. 113-20 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  39. Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection.

    Kummer, S., Sagir, A., Pandey, S., Feldkötter, M., Habbig, S., Körber, F., Ney, D., Hoppe, B., Häussinger, D., Mayatepek, E. & Oh, J., 05.2011, In: PEDIATR NEPHROL. 26, 5, p. 725-731 5.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  40. TH1 predominance is associated with improved survival in pediatric medulloblastoma patients

    Wiegering, V., Eyrich, M., Rutkowski, S., Wölfl, M., Schlegel, P. G. & Winkler, B., 05.2011, In: CANCER IMMUNOL IMMUN. 60, 5, p. 693-703 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  41. Glioblastoma in childhood – Treatment and outcome of 7 patients

    Burkhardt, T., Emami, P., Kordes, U., Matschke, J., Regelsberger, J., Westphal, M. & Kammler, G., 01.04.2011, 62. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC) Joint Meeting mit der Polnischen Gesellschaft für Neurochirurgen (PNCH).

    Research output: SCORING: Contribution to book/anthologyConference contribution - Article for conferenceResearch

  42. Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns

    Ensenauer, R., Fingerhut, R., Maier, E. M., Polanetz, R., Olgemöller, B., Röschinger, W. & Muntau, A. C., 04.2011, In: CLIN CHEM. 57, 4, p. 623-6 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  43. IL3 variant on chromosomal region 5q31-33 and protection from recurrent malaria attacks

    Meyer, C. G., Calixto Fernandes, M. H., Intemann, C. D., Kreuels, B., Kobbe, R., Kreuzberg, C., Ayim, M., Ruether, A., Loag, W., Ehmen, C., Adjei, S., Adjei, O., Horstmann, R. D. & May, J., 15.03.2011, In: HUM MOL GENET. 20, 6, p. 1173-81 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  44. Effect of kidney disease on glucose handling (including genetic defects)

    Calado, J., Santer, R. & Rueff, J., 03.2011, In: Kidney international. Supplement. 120, p. S7-13

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  45. Follow-up survey of children who received sulfadoxine-pyrimethamine for intermittent preventive antimalarial treatment in infants

    Kobbe, R., Hogan, B., Adjei, S., Klein, P., Kreuels, B., Loag, W., Adjei, O. & May, J., 15.02.2011, In: J INFECT DIS. 203, 4, p. 556-60 5 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  46. Cohen syndrome diagnosis using whole genome arrays

    Rivera-Brugués, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Göhring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H-E., Meitinger, T., Strom, T. M. & Hempel, M., 02.2011, In: J MED GENET. 48, 2, p. 136-40 5 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  47. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

    Oexle, K., Hempel, M., Jauch, A., Meitinger, T., Rivera-Brugués, N., Stengel-Rutkowski, S. & Strom, T., 08.01.2011, In: EUR J MED GENET. 54, 3, p. 225-30 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  48. Assessment of LED fluorescence microscopy for the diagnosis of Plasmodium falciparum infections in Gabon

    Lenz, D., Kremsner, P. G., Lell, B., Biallas, B., Boettcher, M., Mordmüller, B. & Adegnika, A. A., 01.01.2011, In: MALARIA J. 10, p. 194

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  49. Large and ongoing outbreak of haemolytic uraemic syndrome, Germany, May 2011

    Frank, C., Faber, M. S., Askar, M., Bernard, H., Fruth, A., Gilsdorf, A., Hohle, M., Karch, H., Krause, G., Prager, R., Spode, A., Stark, K., Werber, D., HUS investigation team & Oh, J., 01.01.2011, In: EUROSURVEILLANCE. 16, 21

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease.

    Tosetto, A., Rodeghiero, F., Castaman, G., Goodeve, A., Federici, A. B., Batlle, J., Meyer, D., Goudemand, J., Eikenboom, J., Schneppenheim, R., Budde, U., Ingerslev, J., Lethagen, S., Hill, F. G. H. & Peake, I., 2011, In: HAEMOPHILIA. 17, 1, p. 165-166 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  51. A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature.

    Coccé, M. C., Lubieniecki, F., Kordes, U., Alderete, D. & Gallego, M. S., 2011, In: J NEURO-ONCOL. 104, 1, p. 375-380 1.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  52. AFS. Angstfragebogen für Schüler

    Mack, B. & Barkmann, C., 2011, Klinische Ratingskalen des Kindes- und Jugendalters. Hogrefe-Verlag, p. 46-50 5 p.

    Research output: SCORING: Contribution to book/anthologySCORING: Contribution to collected editions/anthologiesResearchpeer-review