Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2010

  2. Blickdiagnose: Gangstörung und krauses Haar

    Pittner, M. & Kohlschütter, A., 04.2010, In: Neuropäd Klin Prax. 04, p. 125

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

  3. Thyroid-stimulating hormone, a novel, locally produced modulator of human epidermal functions, is regulated by thyrotropin-releasing hormone and thyroid hormones

    Bodó, E., Kany, B., Gáspár, E., Knüver, J., Kromminga, A., Ramot, Y., Bíró, T., Tiede, S., van Beek, N., Poeggeler, B., Meyer, K. C., Wenzel, B. E. & Paus, R., 04.2010, In: ENDOCRINOLOGY. 151, 4, p. 1633-42 10 p.

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

  4. Cerebellar stem cells act as medulloblastoma-initiating cells in a mouse model and a neural stem cell signature characterizes a subset of human medulloblastomas

    Sutter, R., Shakhova, O., Bhagat, H., Behesti, H., Sutter, C., Penkar, S., Santuccione, A. C., Bernays, R., Heppner, F. L., Schüller, U., Grotzer, M. A., Moch, H., Schraml, P. & Marino, S., 25.03.2010, In: ONCOGENE. 29, 12, p. 1845-56 12 p.

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

  5. A 76-year-old woman with paraplegia

    Rémi, J., Pfefferkorn, T., König, F. B., Lassmann, H., Brück, W., Holtmannspötter, M., Straube, A., Kretzschmar, H. A. & Schüller, U., 03.2010, In: BRAIN PATHOL. 20, 2, p. 507-10 4 p.

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

  6. Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency

    Rohr, J., Pannicke, U., Döring, M., Schmitt-Graeff, A., Wiech, E., Busch, A., Speckmann, C., Müller, I., Lang, P., Handgretinger, R., Fisch, P., Schwarz, K. & Ehl, S., 03.2010, In: J CLIN IMMUNOL. 30, 2, p. 314-20 7 p.

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

  7. Cooperative study group for childhood acute lymphoblastic leukaemia (COALL): long-term results of trials 82,85,89,92 and 97.

    Escherich, G., Horstmann, M. A., Zimmermann, M., Janka-Schaub, G. E. & COALL study group, 01.02.2010, In: LEUKEMIA. 24, 2, p. 298-308 11 p.

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

  8. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

    Kohlschütter, A., Bley, A., Brockmann, K., Gärtner, J., Krägeloh-Mann, I., Rolfs, A. & Schöls, L., 02.2010, In: BRAIN DEV-JPN. 32, 2, p. 82-89 8 p.

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

  9. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma

    Wolf, C., Gramer, E., Müller-Myhsok, B., Pasutto, F., Gramer, G., Wissinger, B. & Weisschuh, N., 02.2010, In: J GLAUCOMA. 19, 2, p. 136-41 6 p.

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

  10. DNA vaccination: using the patient's immune system to overcome cancer

    Eschenburg, G., Stermann, A., Preissner, R., Meyer, H-A. & Lode, H. N., 01.01.2010, In: Clin Dev Immunol. 2010, p. 169484

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

  11. Four-digit replantation in a mentally retarded person: a case report

    Sinis, N., Boettcher, M., Kraus, A., Werdin, F. & Schaller, H. E., 01.01.2010, In: Eplasty. 10, p. e62

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

  12. Multiplicity of Plasmodium falciparum infection following intermittent preventive treatment in infants

    Buchholz, U., Kobbe, R., Danquah, I., Zanger, P., Reither, K., Abruquah, H. H., Grobusch, M. P., Ziniel, P., May, J. & Mockenhaupt, F. P., 01.01.2010, In: MALARIA J. 9, p. 244

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

  13. Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases

    Bockenhauer, D., van't Hoff, W., Dattani, M., Lehnhardt, A., Subtirelu, M., Hildebrandt, F. & Bichet, D. G., 01.01.2010, In: NEPHRON PHYSIOL. 116, 4, p. p23-9

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

  14. Leptin and the Skin: a new frontier

    Poeggeler, B., Schulz, C., Pappolla, M. A., Bodó, E., Tiede, S., Lehnert, H. & Paus, R., 01.2010, In: EXP DERMATOL. 19, 1, p. 12-8 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  15. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

    Pohl, S., Encarnação, M., Castrichini, M., Müller-Loennies, S., Muschol, N. & Braulke, T., 01.2010, In: AM J MED GENET A. 152, 1, p. 124-132 9 p., 1.

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

  16. [28-year old female patient with respiratory insufficiency, elevated liver enzymes, pancytopenia and fever].

    Wolschke, C., Fiedler, W., Habermann, C., Janka-Schaub, G. & Kluge, S., 2010, In: INTERNIST. 51, 11, p. 1434-1438 11.

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

  17. Acute renal failure

    Kemper, M. J., 2010, Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media, p. 338-345 7 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  18. Adjuvant dendritic cell-based tumour vaccination for children with malignant brain tumours.

    Ardon, H., Steven, D. V., Frank, V. C., Claes, L., Kramm, C. M., Rutkowski, S., Wolff, J. E. A., Gool, V. & Stefaan, W., 2010, In: PEDIATR BLOOD CANCER. 54, 4, p. 519-525 4.

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

  19. ADP-dependent platelet function prior to and in the early course of pediatric liver transplantation and persisting thrombocytopenia are positively correlated with ischemia/reperfusion injury.

    Jan, S. A. E., Akyildiz, A., Tustas, R. Y., Ganschow, R., Schmelzle, M., Krieg, A., Robson, S. C., Topp, S. A., Rogiers, X., Knoefel, W. T. & Fischer, L., 2010, In: TRANSPL INT. 23, 7, p. 745-752 7.

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

  20. Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification.

    Korshunov, A., Remke, M., Werft, W., Benner, A., Ryzhova, M., Witt, H., Sturm, D., Wittmann, A., Schöttler, A., Felsberg, J., Reifenberger, G., Rutkowski, S., Scheurlen, W., Kulozik, A. E., von Deimling, A., Lichter, P. & Pfister, S. M., 2010, In: J CLIN ONCOL. 28, 18, p. 3054-3060 18.

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

  21. A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.

    Neu, A., Eiselt, M., Paul, M., Sauter, K., Stallmeyer, B., Isbrandt, D. & Schulze-Bahr, E., 2010, In: HUM MUTAT. 31, 8, p. 1609-1621 8.

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

  22. Aktuelle Ergebnisse notfallmedizinischer Forschung 2009/2010

    Hinkelbein, J., Singer, D., Thiele, H., Meixensberger, J. & Böttiger, BW., 2010, In: Notfallmed up2date. 5, 3, p. 253-268 3.

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

  23. A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

    Müller-Loennies, S., Galliciotti, G., Kollmann, K., Glatzel, M. & Braulke, T., 2010, In: AM J PATHOL. 177, 1, p. 240-247 1.

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

  24. A restricted spectrum of NRAS mutations causes Noonan syndrome.

    Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., König, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., Rossi, C., Zampino, G., Digilio, C., Stuppia, L., Seemanova, E., Pennacchio, L. A., Gelb, B. D., Dallapiccola, B., Wittinghofer, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., 2010, In: NAT GENET. 42, 1, p. 27-29 1.

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

  25. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

    Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J. & Kubisch, C., 2010, In: AM J MED GENET A. 152A, 8, p. 2090-2093 8.

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

  26. A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

    Steichen-Gersdorf, E., Griesmaier, E., Pientka, F. K., Kotzot, D. & Kutsche, K., 2010, In: CLIN DYSMORPHOL. 19, 2, p. 82-84 2.

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

  27. Attention and executive functioning deficits in liver-transplanted children.

    Kaller, T., Langguth, N., Ganschow, R., Nashan, B. & Schulz, K-H., 2010, In: TRANSPLANTATION. 90, 12, p. 1567-1573 12.

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

  28. Changes in umbilical venous volume flow after fetoscopic laser occlusion of placental vascular anastomoses in twin-to-twin transfusion syndrome.

    Baschat, A. E., Gungor, S., Glosemeyer, P., Huber, A. & Hecher, K., 2010, In: AM J OBSTET GYNECOL. 203, 5, p. 1-6 5.

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

  29. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

    Kordes, U., Gesk, S., Frühwald, M. C., Graf, N., Leuschner, I., Hasselblatt, M., Jeibmann, A., Oyen, F., Peters, O., Pietsch, T., Siebert, R. & Schneppenheim, R., 2010, In: GENE CHROMOSOME CANC. 49, 2, p. 176-181 2.

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

  30. Clinical outcome of children with newly diagnosed Philadelphia chromosome-positive acute lymphoblastic leukemia treated between 1995 and 2005.

    Aricò, M., Schrappe, M., Hunger, S. P., Carroll, W. L., Conter, V., Galimberti, S., Manabe, A., Saha, V., Baruchel, A., Vettenranta, K., Horibe, K., Benoit, Y., Pieters, R., Escherich, G., Silverman, L. B., Pui, C-H. & Valsecchi, M. G., 2010, In: J CLIN ONCOL. 28, 31, p. 4755-4761 31.

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

  31. Clinical, radiological and genetic aspects of leukodystrophies.

    László, A., Elpeleg, O., Horváth, K., Jakobs, C., Kóbor, J., Gal, A., Barsi, P., Kelemen, A., Saracz, J., Svékus, A., Tegzes, A. & Vörös, E., 2010, In: IDEGGYOGY SZEMLE. 63, 7-8, p. 266-273 7-8.

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

  32. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

    Behrens, M. I., Brüggemann, N., Chana, P., Venegas, P., Kägi, M., Parrao, T., Orellana, P., Garrido, C., Rojas, C. V., Hauke, J., Hahnen, E., González, R., Seleme, N., Fernández, V., Schmidt, A., Binkofski, F., Kömpf, D., Kubisch, C., Hagenah, J., Klein, C. & Ramirez, A., 2010, In: MOVEMENT DISORD. 25, 12, p. 1929-1937 12.

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

  33. Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

    Lommel, M., Cirak, S., Willer, T., Hermann, R., Uyanik, G., van Bokhoven, H., Körner, C., Voit, T., Bari, I., Hehr, U. & Strahl, S., 2010, In: NEUROLOGY. 74, 2, p. 157-164 2.

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

  34. Das nephrotische Syndrom im Kindesalter Das nephrotische Syndrom im Kindesalter

    Klaassen, I. & Kemper, M. J., 2010, In: Kinder- und Jugendmedizin. 10, 4, p. 203-210 4.

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

  35. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

    Dressler, S., Meyer-Marcotty, P., Weisschuh, N., Jablonski-Momeni, A., Pieper, K., Gramer, G. & Gramer, E., 2010, In: CASE REP MED. 2010, p. 621984

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

  36. Diagnostic examination of the child with urolithiasis or nephrocalcinosis.

    Hoppe, B. & Kemper, M. J., 2010, In: PEDIATR NEPHROL. 25, 3, p. 403-413 3.

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

  37. Differential diagnosis of tendon tumors: xanthomas caused by hyperlipidemia in children.

    Reichwaldt, I., Zustin, J., Wenke, K. & Ridderbusch, I., 2010, In: J PEDIATR SURG. 45, 10, p. 9-12 10.

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

  38. Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.

    Klukowska, A., Niewiadomska, E., Ulrich, B., Oyen, F. & Schneppenheim, R., 2010, In: J PEDIAT HEMATOL ONC. 32, 2, p. 103-107 2.

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

  39. Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD.

    Shalaby, T., von Bueren, A., André, O., Hürlimann, M-L., Fiaschetti, G., Castelletti, D., Masayuki, T., Nagasawa, K., Arcaro, A., Jelesarov, I., Shin-ya, K. & Grotzer, M., 2010, In: MOL CANCER THER. 9, 1, p. 167-179 1.

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

  40. Distribution of cardiac iron measured by magnetic resonance imaging (MRI)-R*2.

    Yamamura, J., Grosse, R., Graessner, J., Janka-Schaub, G., Adam, G. & Fischer, R., 2010, In: J MAGN RESON IMAGING. 32, 5, p. 1104-1109 5.

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

  41. Embryopathic stress in response to harmful maternal stimuli, can result in DNA damage. Preface.

    Varla-Leftherioti, M. & Arck, P., 2010, In: J REPROD IMMUNOL. 85, 1, p. 1-2 1.

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

  42. Endometriosis research: animal models for the study of a complex disease.

    Tirado-González, I., Barrientos, G., Tariverdian, N., Arck, P., García, M. G., Klapp, B. F. & Blois, S. M., 2010, In: J REPROD IMMUNOL. 86, 2, p. 141-147 2.

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

  43. Ependymoma of the spinal cord in children and adolescents: a retrospective series from the HIT database.

    Benesch, M., Weber-Mzell, D., Gerber, N. U., von Hoff, K., Deinlein, F., Krauss, J., Warmuth-Metz, M., Kortmann, R-D., Pietsch, T., Driever, P. H., Quehenberger, F., Urban, C. & Rutkowski, S., 2010, In: J NEUROSURG-PEDIATR. 6, 2, p. 137-144 2.

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

  44. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

    Santer, R. & Calado, J., 2010, In: CLIN J AM SOC NEPHRO. 5, 1, p. 133-141 1.

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

  45. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

    Guettsches, A-K., Kuechler, A., Gal, A., Schmitz, W., Tegenthoff, M. & Vorgerd, M., 2010, In: J NEUROL. 257, 8, p. 1394-1395 8.

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

  46. Fetal origin of atopic dermatitis.

    Pincus, M., Keil, T., Rücke, M., Brünahl, C., Magdorf, K., Klapp, B. F., Douglas, A. J., Paus, R., Wahn, U. & Arck, P., 2010, In: J ALLERGY CLIN IMMUN. 125, 1, p. 273-274 1.

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

  47. Fibroblast growth factor 23 and bone metabolism in children with chronic kidney disease.

    Van Husen, M., Fischer, A-K., Lehnhardt, A., Klaassen, I., Möller, K., Müller-Wiefel, D. E. & Kemper, M. J., 2010, In: KIDNEY INT. 78, 2, p. 200-206 2.

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

  48. First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis.

    Li, Y., Pabst, S., Kubisch, C., Grohé, C. & Wollnik, B., 2010, In: THORAX. 65, 10, p. 939-940 10.

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

  49. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

    Schneppenheim, R., Frühwald, M. C., Gesk, S., Hasselblatt, M., Jeibmann, A., Kordes, U., Kreuz, M., Leuschner, I., Subero, M., Obser, T., Oyen, F., Oyen, F., Vater, I. & Siebert, R., 2010, In: AM J HUM GENET. 86, 2, p. 279-284 2.

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

  50. Glycostructures in biological systems - synthesis and function.

    Thiem, J. & Braulke, T., 2010, In: EUR J CELL BIOL. 89, 1, p. 1 1.

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

  51. Growth after intrauterine laser coagulation for twin-twin transfusion syndrome.

    Maschke, C., Franz, A. R., Ellenrieder, B., Hecher, K., Diemert, A. & Bartmann, P., 2010, In: ARCH DIS CHILD-FETAL. 95, 2, p. 115-117 2.

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

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