Center for Obstetrics and Pediatrics
Publications
- 2012
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 484Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 61-80Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 68Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
(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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
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 journal › SCORING: Review article › Research
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 journal › SCORING: Journal article › Research › peer-review
- 2011
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 E233Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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/anthology › Conference contribution - Article for conference › Research
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
Effect of kidney disease on glucose handling (including genetic defects)
Calado, J., Santer, R. & Rueff, J., 03.2011, In: Kidney international. Supplement. 120, p. S7-13Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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. 194Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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, 21Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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 journal › SCORING: Journal article › Research › peer-review
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/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review