Center for Obstetrics and Pediatrics
Publications
- 2011
A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
Marschner, K., Kollmann, K., Schweizer, M., Braulke, T. & Pohl, S., 2011, In: SCIENCE. 333, 6038, p. 87-90 6038.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aktuelle Ergebnisse notfallmedizinischer Forschung 2010/2011
Hinkelbein, J., Singer, D., Thiele, H., Meixensberger, J. & Böttiger, BW., 2011, In: Notfallmed up2date. 6, 4, p. 337-352 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An aggressive systemic juvenile xanthogranuloma clonally related to a preceding T-cell acute lymphoblastic leukemia.
Perez-Becker, R., Szczepanowski, M., Leuschner, I., Janka-Schaub, G., Gokel, M., Imschweiler, T., Völpel, S., Niehues, T. & Klapper, W., 2011, In: PEDIATR BLOOD CANCER. 56, 5, p. 859-862 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
Lebrun, A-H., Moll-Khasrawi, P., Pohl, S., Makrypidi, G., Storch, S., Kilian, D., Streichert, T., Otto, B., Mole, S. E., Ullrich, K., Cotman, S., Kohlschütter, A., Braulke, T. & Schulz, A., 2011, In: MOL MED. 17, 11-12, p. 1253-1261 11-12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel xenogeneic co-culture system to examine neuronal differentiation capability of various adult human stem cells
Petschnik, A. E., Fell, B., Tiede, S., Habermann, J. K., Pries, R., Kruse, C. & Danner, S., 2011, In: PLOS ONE. 6, 9, p. e24944Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal, A., Rau, I., Leila, E. M., Kreienkamp, H-J., Fehr, S., Baklouti, K., Chouchane, I., Li, Y., Rehbein, M., Fuchs, J., Fledelius, H. C., Vilhelmsen, K., Schorderet, D. F., Munier, F. L., Ostergaard, E., Thompson, D. A. & Rosenberg, T., 2011, In: AM J HUM GENET. 88, 3, p. 382-390 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bone regeneration: stem cell therapies and clinical studies in orthopaedics and traumatology.
Gómez-Barrena, E., Rosset, P., Müller, I., Giordano, R., Bunu, C., Layrolle, P., Konttinen, Y. T. & Luyten, F. P., 2011, In: J CELL MOL MED. 15, 6, p. 1266-1286 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ccdc66 null mutation causes retinal degeneration and dysfunction.
Gerding, W. M., Schreiber, S., Schulte-Middelmann, T., de Castro Marques, A., Atorf, J., Akkad, D. A., Dekomien, G., Kremers, J., Dermietzel, R., Gal, A., Rülicke, T., Ibrahim, S., Epplen, J. T. & Petrasch-Parwez, E., 2011, In: HUM MOL GENET. 20, 18, p. 3620-3631 18.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.
Roth, L., Marschalek, R., Oldenburg, J., Oyen, F. & Schneppenheim, R., 2011, In: THROMB HAEMOSTASIS. 105, 2, p. 279-284 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol.
Trottestam, H., Horne, A., Aricò, M., Egeler, R. M., Filipovich, A. H., Gadner, H., Imashuku, S., Ladisch, S., Webb, D., Janka-Schaub, G., Henter, J-I. & Society, H., 2011, In: BLOOD. 118, 17, p. 4577-4584 17.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Childhood leukodystrophies: a clinical perspective.
Kohlschütter, A. & Eichler, F., 2011, In: EXPERT REV NEUROTHER. 11, 10, p. 1485-1496 10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Childhood medulloblastoma.
Massimino, M., Giangaspero, F., Garrè, M. L., Gandola, L., Poggi, G., Biassoni, V., Gatta, G. & Rutkowski, S., 2011, In: CRIT REV ONCOL HEMAT. 79, 41, p. 65-83 41.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature.
Marquard, J., Tarik, E. S., Klee, D., Schmitt, M., Meissner, T., Mayatepek, E. & Oh, J., 2011, In: EUR J PEDIATR. 170, 2, p. 241-245 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CLN2
Chang, M., Cooper, J. D., Davidson, B. L., van Diggelen, O., Elleder, M., Goebel, H. H., Golabek, A. A., Kida, E., Kohlschütter, A., Lobel, P., Mole, S. E., Schulz, A., Sleat, D. E., Warburton, M. & Wisniewski, K. E., 2011, The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press, 30 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
c-MYC expression sensitizes medulloblastoma cells to radio- and chemotherapy and has no impact on response in medulloblastoma patients.
von Bueren, A., André, O., Oehler, C., von Hoff, K., von Hoff, K., Pruschy, M., Seifert, B., Gerber, N. U., Warmuth-Metz, M., Stearns, D., Eberhart, C. G., Rutkowski, S., Rutkowski, S. & Grotzer, M. A., 2011, In: BMC CANCER. 11, p. 74Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.
Mohl, A., Boda, Z., Jager, R., Losonczy, H., Marosi, A., Masszi, T., Nagy, E., Nemes, L., Obser, T., Oyen, F., Radványi, G., Schlammadinger, U., Szélessy, Z. S., Várkonyi, A., Vezendy, K., Vilimi, B., Schneppenheim, R. & Bodó, I., 2011, In: J THROMB HAEMOST. 9, 5, p. 945-952 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama, F. M., Lessel, D., Leistritz, D., Friedrich, K., McBride, K. L., Pastore, M. T., Gottesman, G. S., Saha, B., Martin, G. M., Kubisch, C. & Oshima, J., 2011, In: AM J MED GENET A. 155A, 12, p. 3002-3006 12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue, K., Pogoda, H-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M. J., Breuning, M. H., Sawyer, G. M., Sutherland-Smith, A. J., Nikkels, P. G., Kubisch, C., Bloch, W., Wollnik, B., Hammerschmidt, M. & Robertson, S. P., 2011, In: AM J HUM GENET. 89, 5, p. 595-606 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Curative treatment for central nervous system medulloepithelioma despite residual disease after resection. Report of two cases treated according to the GPHO Protocol HIT 2000 and review of the literature.
Müller, K., Zwiener, I., Welker, H., Maass, E., Bongartz, R., Berthold, F., Pietsch, T., Warmuth-Metz, M., von Bueren, A. & Rutkowski, S., 2011, In: STRAHLENTHER ONKOL. 187, 11, p. 757-762 11.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Desperately seeking diarrhoea: outbreak of haemolytic uraemic syndrome caused by emerging sorbitol-fermenting shiga toxin-producing Escherichia coli O157:H-, Germany, 2009.
Nielsen, S., Frank, C., Fruth, A., Spode, A., Prager, R., Graff, A., Plenge-Bönig, A., Loos, S., Lütgehetmann, M., Kemper, M. J., Müller-Wiefel, D. E. & Werber, D., 2011, In: ZOONOSES PUBLIC HLTH. 58, 8, p. 567-572 8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Boneh, A., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Angels, G. C., Goodman, S. I., Koeller, D. M., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J. G., Wilcken, B., Hoffmann, G. F. & Burgard, P., 2011, In: J INHERIT METAB DIS. 34, 3, p. 677-694 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.
Lukacs, Z., Nieves Cobos, P. A., Keil, A., Hartung, R., Mengel, E., Beck, M., Deschauer, M., Hanisch, F. & Santer, R., 2011, In: CLIN BIOCHEM. 44, 7, p. 476 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Early-childhood membranous nephropathy due to cationic bovine serum albumin.
Debiec, H., Lefeu, F., Kemper, M. J., Niaudet, P., Deschênes, G., Remuzzi, G., Ulinski, T. & Ronco, P., 2011, In: NEW ENGL J MED. 364, 22, p. 2101-2110 22.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ectopic craniopharyngioma.
Kordes, U., Flitsch, J., Hagel, C., Goebell, E., Schwarz, R., Herberhold, T., von Bueren, A., Rutkowski, S. & Müller, H. L., 2011, In: KLIN PADIATR. 223, 3, p. 176-177 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.
Hoppe, B., Groothoff, J. W., Hulton, S-A., Cochat, P., Niaudet, P., Kemper, M. J., Deschênes, G., Unwin, R. & Milliner, D., 2011, In: NEPHROL DIAL TRANSPL. 26, 11, p. 3609-3615 11.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Epidemic profile of Shiga-toxin-producing Escherichia coli O104:H4 outbreak in Germany.
Frank, C., Werber, D., Cramer, J., Askar, M., Faber, M., Matthias, A. D. H., Bernard, H., Fruth, A., Prager, R., Spode, A., Wadl, M., Zoufaly, A., Jordan, S., Kemper, M. J., Follin, P., Müller, L., King, L. A., Rosner, B., Buchholz, U., Stark, K., Krause, G. & Team, HUS. I., 2011, In: NEW ENGL J MED. 365, 19, p. 1771-1780 19.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Estrogen receptor alpha expression in podocytes mediates protection against apoptosis in-vitro and in-vivo.
Kummer, S., Jeruschke, S., Wegerich, L. V., Peters, A., Lehmann, P., Seibt, A., Müller, F., Koleganova, N., Halbenz, E., Schmitt, C. P., Bettendorf, M., Mayatepek, E., Gross-Weissmann, M-L. & Oh, J., 2011, In: PLOS ONE. 6, 11, p. 27457 11.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evaluating experimental treatment of leukodystrophies.
Kohlschütter, A., 2011, In: DEV MED CHILD NEUROL. 53, 9, p. 781 9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Expression of BARHL1 in medulloblastoma is associated with prolonged survival in mice and humans.
Pöschl, J., Lorenz, A., Hartmann, W., von Bueren, A., Kool, M., Li, S., Peraud, A., Tonn, J-C., Herms, J., Xiang, M., Rutkowski, S., Kretzschmar, H. A. & Schüller, U., 2011, In: ONCOGENE. 30, 47, p. 4721-4730 47.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fanconi-Bickel syndrome and fertility.
von Schnakenburg, C. & Santer, R., 2011, In: AM J MED GENET A. 155A, 10, p. 2607 10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fostering new investigators in Reproductive Immunology.
Toth, B., Segerer, S., Solano, M. E., Nevers, T., Baumann, K., Gueuvoghlanian-Silva, B. Y., Jago, C. & Scholz, C., 2011, In: J REPROD IMMUNOL. 90, 1, p. 124-126 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database.
von Hoff, K., Hinkes, B., Dannenmann-Stern, E., von Bueren, A., André, O., Warmuth-Metz, M., Soerensen, N., Emser, A., Zwiener, I., Schlegel, P. G., Kuehl, J., Frühwald, M. C., Kortmann, R. D., Rutkowski, S. & Rutkowski, S., 2011, In: PEDIATR BLOOD CANCER. 57, 6, p. 978-985 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma.
Remke, M., Hielscher, T., Korshunov, A., Northcott, P. A., Bender, S., Kool, M., Westermann, F., Benner, A., Cin, H., Ryzhova, M., Sturm, D., Witt, H., Haag, D., Toedt, G., Wittmann, A., Schöttler, A., von Bueren, A., André, O., Rutkowski, S., Rutkowski, S., Scheurlen, W., Kulozik, A. E., Taylor, M. D., Lichter, P. & Pfister, S. M., 2011, In: J CLIN ONCOL. 29, 29, p. 3852-3861 29.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis, U., Uyanik, G., Heck, P. B., Smitka, M., Nobel, H., Ebinger, F., Dirik, E., Feng, L., Kurul, S. H., Brocke, K., Unalp, A., Özer, E., Cakmakci, H., Sewry, C., Cirak, S., Muntoni, F., Hehr, U. & Morris-Rosendahl, D. J., 2011, In: NEUROMUSCULAR DISORD. 21, 1, p. 20-30 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Functional roles of Ca(v)1.3, Ca(v)3.1 and HCN channels in automaticity of mouse atrioventricular cells: insights into the atrioventricular pacemaker mechanism.
Marger, L., Mesirca, P., Alig, J., Torrente, A., Dubel, S., Engeland, B., Kanani, S., Fontanaud, P., Striessnig, J., Shin, H-S., Isbrandt, D., Ehmke, H., Nargeot, J. & Mangoni, M. E., 2011, In: CHANNELS. 5, 3, p. 251-261 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
Chasman, D. I., Schürks, M., Anttila, V., de Vries, B., Schminke, U., Launer, L. J., Terwindt, G. M., Maagdenberg, V. D., Arn, M. J. M., Fendrich, K., Völzke, H., Ernst, F., Griffiths, L. R., Buring, J. E., Kallela, M., Kubisch, C., Ridker, P. M., Palotie, A., Ferrari, M. D., Hoffmann, W., Zee, R. Y. L. & Kurth, T., 2011, In: NAT GENET. 43, 7, p. 695-698 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni, E., Cetica, V., Santoro, A., Beutel, K., Mastrodicasa, E., Meeths, M., Ciambotti, B., Brugnolo, F., Zur Stadt, U., Pende, D., Moretta, L., Griffiths, G. M., Henter, J-I., Janka-Schaub, G. & Aricò, M., 2011, In: J MED GENET. 48, 5, p. 343-352 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
Lamp, J., Keyser, B., Koeller, D. M., Ullrich, K., Braulke, T. & Mühlhausen, C., 2011, In: J BIOL CHEM. 286, 20, p. 17777-17784 20.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.
Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G. & Kutsche, K., 2011, In: MOL SYNDROMOL. 2, 1, p. 27-34 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High-dose chemotherapy followed by autologous stem cell transplantation for metastatic rhabdomyosarcoma--a systematic review.
Peinemann, F., Kröger, N., Bartel, C., Grouven, U., Pittler, M., Erttmann, R. & Kulig, M., 2011, In: PLOS ONE. 6, 2, p. 17127 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High dose methotrexate for pediatric high grade glioma: results of the HIT-GBM-D Pilot study.
Wolff, J. E., Kortmann, R-D., Wolff, B., Pietsch, T., Peters, O., Schmid, H-J., Rutkowski, S., Warmuth-Metz, M. & Kramm, C., 2011, In: J NEURO-ONCOL. 102, 3, p. 433-442 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High prevalence of renal dysfunction in children after liver transplantation: non-invasive diagnosis using a cystatin C-based equation.
Brinkert, F., Kemper, M. J., Briem-Richter, A., Van Husen, M., Treszl, A. & Ganschow, R., 2011, In: NEPHROL DIAL TRANSPL. 26, 4, p. 1407-1412 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Highway to health; or How prenatal factors determine disease risks in the later life of the offspring.
Solano, M. E., Jago, C., Pincus, M. K. & Arck, P., 2011, In: J REPROD IMMUNOL. 90, 1, p. 3-8 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
Volk, A. E., Carter, O., Fricke, J., Herkenrath, P., Poggenborg, J., Borck, G., Demant, A. W., Ivo, R., Eysel, P., Kubisch, C. & Neugebauer, A., 2011, In: MOL VIS. 17, p. 1978-1986Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad, A., Daud, S., Kakar, N., Nürnberg, G., Nürnberg, P., Babar, M. E., Thoenes, M., Kubisch, C., Ahmad, J. & Bolz, H. J., 2011, In: MOL VIS. 17, p. 1940-1945Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors.
Harps, E., Brinkert, F., Ganschow, R., Briem-Richter, A., Van Husen, M., Schmidtke, S., Herden, U., Nashan, B., Fischer, L. & Kemper, M. J., 2011, In: TRANSPLANTATION. 91, 10, p. 1127-1131 10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Increased cyclosporine concentrations in the absence of cyclosporine administration.
Peter, A., Shipkova, M., Wieland, E., Schleicher, E. & Müller, I., 2011, In: CLIN CHEM. 57, 5, p. 670-673 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Integrated transcript and genome analyses reveal NKX2-1 and MEF2C as potential oncogenes in T cell acute lymphoblastic leukemia.
Homminga, I., Pieters, R., Langerak, A. W., Rooi, D., Johan, J., Stubbs, A., Verstegen, M., Vuerhard, M., Buijs-Gladdines, J., Kooi, C., Klous, P., van Vlierberghe, P., Ferrando, A. A., Cayuela, J. M., Verhaaf, B., Horstmann, M., Horstmann, M., de Haas, V., Wiekmeijer, A-S., Pike-Overzet, K., Staal, F. J. T., de Laat, W., Soulier, J., Sigaux, F. & Meijerink, J. P. P., 2011, In: CANCER CELL. 19, 4, p. 484-497 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Late complete remission of supratentorial primitive neuroectodermal tumor (CNS-PNET) after multiple relapses.
von Bueren, A., André, O., Warmuth-Metz, M., Schlegel, P. G., Soerensen, N., Krauss, J., Roggendorf, W., Pietsch, T., Feiden, W., Graf, N., Pohl, F., Flentje, M., Rutkowski, S. & Rutkowski, S., 2011, In: PEDIATR BLOOD CANCER. 56, 3, p. 503-505 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.
Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review