Research ExplorerScientific StaffReinhard Schneppenheim Publications

Prof.Dr. ID: 63353

Reinhard Schneppenheim

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Publications

  1. 2011

  2. 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

  3. 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

  4. 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

  5. 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

  6. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.

    Hasselblatt, M., Gesk, S., Oyen, F., Rossi, S., Viscardi, E., Giangaspero, F., Giannini, C., Judkins, A. R., Frühwald, M. C., Obser, T., Schneppenheim, R., Siebert, R. & Paulus, W., 2011, In: AM J SURG PATHOL. 35, 6, p. 933-935 6.

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

  7. Parvovirus B19 infection and autoimmune hepatitis in a child with sickle cell anemia.

    Kordes, U., Schneppenheim, R., Briem-Richter, A., Scherpe, S. & Schäfer, H., 2011, In: PEDIATR BLOOD CANCER. 56, 2, p. 323-324 2.

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

  8. 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

  9. [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

  10. 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

  11. 2010

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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., 2010, In: J THROMB HAEMOST. 8, 9, p. 2011-2016 9.

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

  20. Laboratory diagnosis of von Willebrand disease.

    Patzke, J. & Schneppenheim, R., 2010, In: HAMOSTASEOLOGIE. 30, 4, p. 203-206 4.

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

  21. Loss of SMARCB1/INI1 expression in poorly differentiated chordomas.

    Mobley, B. C., McKenney, J. K., Bangs, C. D., Callahan, K., Yeom, K. W., Schneppenheim, R., Hayden, M. G., Cherry, A. M., Gokden, M., Edwards, M. S. B., Fisher, P. G. & Vogel, H., 2010, In: ACTA NEUROPATHOL. 120, 6, p. 745-753 6.

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

  22. Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

    Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-760 5.

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

  23. Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.

    Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-766 5.

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

  24. Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.

    Hampshire, D. J., Burghel, G. J., Goudemand, J., Bouvet, L. C. S., Eikenboom, J. C. J., Schneppenheim, R., Ulrich, B., Peake, I. R. & Goodeve, A. C., 2010, In: HAEMATOLOGICA. 95, 12, p. 2163-2165 12.

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

  25. Severe bleeding diathesis associated with moderate thrombocytopenia - diagnostic workup of seven family members with type 2B von Willebrand's disease.

    Zdziarska, J., Iwaniec, T., Skotnicki, A. B., Musia, J., Schneppenheim, R., Budde, U. & Kentouche, K., 2010, In: HAEMOPHILIA. 16, 6, p. 958-962 6.

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

  26. The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.

    Haberichter, S. L., Ulrich, B., Obser, T., Schneppenheim, S., Wermes, C. & Schneppenheim, R., 2010, In: BLOOD. 115, 22, p. 4580-4587 22.

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

  27. Using ImageJ for the quantitative analysis of flow-based adhesion assays in real-time under physiologic flow conditions.

    Sascha, M. D. S., Klinkhardt, U., Schneppenheim, R. & Harder, S., 2010, In: PLATELETS. 21, 1, p. 60-66 1.

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

  28. Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD.

    Castaman, G., Tosetto, A., Cappelletti, A., Goodeve, A., Federici, A. B., Batlle, J., Meyer, D., Goudemand, J., Eikenboom, J. C. J., Schneppenheim, R., Budde, U., Ingerslev, J., Lethagen, S., Hill, F., Peake, I. R. & Rodeghiero, F., 2010, In: THROMB RES. 126, 3, p. 227-231 3.

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

  29. 2009

  30. Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.

    Hasselblatt, M., Oyen, F., Gesk, S., Kordes, U., Brigitte, W., Bergmann, M., Schmid, H., Frühwald, M. C., Schneppenheim, R., Siebert, R. & Paulus, W., 12.2009, In: J NEUROPATH EXP NEUR. 68, 12, p. 1249-1255 7 p., 12.

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

  31. Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

    Eikenboom, J., Hilbert, L., Ribba, A. S., Hommais, A., Habart, D., Messenger, S., Al-Buhairan, A., Guilliatt, A., Lester, W., Mazurier, C., Meyer, D., Fressinaud, E., Budde, U., Will, K., Schneppenheim, R., Obser, T., Marggraf, O., Eckert, E., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Goudemand, J., Ingerslev, J., Lethagen, S., Hill, F., Peake, I. & Goodeve, A., 08.2009, In: J THROMB HAEMOST. 7, 8, p. 1304-12 9 p.

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

  32. Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.

    Eberl, W., Budde, U., Bentele, K. H. P., Christen, H-J., Knapp, R., Mey, A. & Schneppenheim, R., 2009, In: HAMOSTASEOLOGIE. 29, 2, p. 137-142 2.

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

  33. A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression.

    van Den, H., Esther, U., Laat, D., Bas, U., Eckmann, U., Carel, M., Michiels, U., Jan, J., Schneppenheim, R., Reinhard, U., Ulrich, B., Mourik, V., Jan, A., Versteegh, U. & Florens, G. A., 2009, In: J PEDIAT HEMATOL ONC. 31, 4, p. 277-280 4.

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

  34. Expression of fourteen von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.

    Eikenboom, J., Hilbert, L., Ribba, A. S., Hommais, A., Habart, D., Messenger, S., Al-Buhairan, A., Guilliatt, A., Lester, W., Mazurier, C., Meyer, D., Fressinaud, E., Budde, U., Will, K., Schneppenheim, R., Obser, T., Marggraf, O., Eckert, E., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Goudemand, J., Ingerslev, J., Lethagen, S., Oyen, F., Peake, I. & Goodeve, A., 2009, In: J THROMB HAEMOST.

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

  35. Heterozygous missense protein S mutation in a young boy with incomplete tetraplegia.

    Mauz-Koerholz, C., Müller, T., Kunze, C., Schneppenheim, R., Bernstaedt, M. & Koerholz, D., 2009, In: KLIN PADIATR. 221, 3, p. 180 3.

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

  36. ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor.

    Beutel, K., Hauch, H., Rischewski, J., Kordes, U., Schneppenheim, J. & Schneppenheim, R., 2009, In: HAMOSTASEOLOGIE. 29, 2, p. 155-157 2.

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

  37. Paediatric haemostaseology.

    Schneppenheim, R., 2009, In: HAMOSTASEOLOGIE. 29, 2, p. 133 2.

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

  38. Pancytopenia in a 4-year-old boy. 22q11.2 microdeletion syndrome.

    Lehmberg, K., Rohr, J., Schneppenheim, R., Sommerfeld, K. & Janka-Schaub, G., 2009, In: ACTA PAEDIATR. 98, 5, p. 769-770, 912-914 5.

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

  39. Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.

    Bug, S., Dürig, J., Oyen, F., Klein-Hitpass, L., Martin-Subero, J. I., Harder, L., Baudis, M., Arnold, N., Kordes, U., Dührsen, U., Schneppenheim, R. & Siebert, R., 2009, In: CANCER GENET-NY. 192, 1, p. 44-47 1.

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

  40. Response to DDAVP in children with von Willebrand disease type 2.

    Schneppenheim, R., Budde, U., Beutel, K., Hassenpflug, W-A., Hauch, H., Obser, T., Oyen, F., Schneppenheim, S. & Schrum, J., 2009, In: HAMOSTASEOLOGIE. 29, 2, p. 143-148 2.

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

  41. Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis.

    Schneppenheim, R., Baldauf, C., Stacklies, W., Obser, T., Pieconka, A., Schneppenheim, S., Budde, U., Zhou, J. & Gräter, F., 2009, In: J THROMB HAEMOST. 7, 12, p. 2096-2105 12.

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

  42. The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

    Schneppenheim, R., Schröder, J., Obser, T., Oyen, F., Schneppenheim, S. & Oldenburg, J., 2009, In: HAMOSTASEOLOGIE. 29, 2, p. 158-160 2.

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

  43. Variations in the ratio between von Willebrand factor and its cleaving protease during systemic inflammation and association with severity and prognosis of organ failure.

    Claus, R. A., Bockmeyer, C. L., Ulrich, B., Kentouche, K., Sossdorf, M., Hilberg, T., Schneppenheim, R., Reinhart, K., Bauer, M., Brunkhorst, F. M. & Lösche, W., 2009, In: THROMB HAEMOSTASIS. 101, 2, p. 239-247 2.

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

  44. 2008

  45. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

    Haberichter, S. L., Castaman, G., Budde, U., Peake, I., Goodeve, A., Rodeghiero, F., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Eikenboom, J., Schneppenheim, R., Ingerslev, J., Vorlova, Z., Habart, D., Holmberg, L., Lethagen, S., Pasi, J., Hill, F. G. H. & Montgomery, R. R., 15.05.2008, In: BLOOD. 111, 10, p. 4979-4985 7 p., 10.

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

  46. An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary.

    Mohl, A., Marschalek, R., Masszi, T., Nagy, E., Obser, T., Oyen, F., Sallai, K., Bodó, I. & Schneppenheim, R., 2008, In: J THROMB HAEMOST. 6, 10, p. 1729-1735 10.

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

  47. Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients.

    Fischer-Maas, L., Schneppenheim, R., Oyen, F., Grabhorn, E., Briem-Richter, A., Fischer, L. & Ganschow, R., 2008, In: PEDIATR TRANSPLANT. 12, 7, p. 769-772 7.

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

  48. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

    Budde, U., Schneppenheim, R., Eikenboom, J., Goodeve, A., Will, K., Drewke, E., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Pérez, A., Meyer, D., Mazurier, C., Goudemand, J., Ingerslev, J., Habart, D., Vorlova, Z., Holmberg, L., Lethagen, S., Pasi, J., Hill, F. & Peake, I., 2008, In: J THROMB HAEMOST. 6, 5, p. 762-771 5.

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

  49. Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

    Gupta, P. K., Saxena, R., Adamtziki, E., Budde, U., Oyen, F., Obser, T. & Schneppenheim, R., 2008, In: BLOOD CELL MOL DIS. 41, 2, p. 219-222 2.

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

  50. Impaired capacity for acute endogenous fibrinolysis in smokers is restored by ascorbic acid.

    Kähler, J., Koeke, K., Karstens, M., Schneppenheim, R., Meinertz, T. & Heitzer, T., 2008, In: FREE RADICAL BIO MED. 44, 3, p. 315-321 3.

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

  51. [Inborn and acquired von Willebrand disease]

    Schneppenheim, R. & Budde, U., 2008, In: HAMOSTASEOLOGIE. 28, 5, p. 312-319 5.

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

  52. Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor.

    Bockmeyer, C. L., Claus, R. A., Budde, U., Kentouche, K., Schneppenheim, R., Lösche, W., Reinhart, K. & Brunkhorst, F. M., 2008, In: HAEMATOLOGICA. 93, 1, p. 137-140 1.

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

  53. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.

    Castaman, G., Lethagen, S., Federici, A. B., Tosetto, A., Goodeve, A., Budde, U., Batlle, J., Meyer, D., Mazurier, C., Fressinaud, E., Goudemand, J., Eikenboom, J., Schneppenheim, R., Ingerslev, J., Vorlova, Z., Habart, D., Holmberg, L., Pasi, J., Hill, F., Peake, I. & Rodeghiero, F., 2008, In: BLOOD. 111, 7, p. 3531-3539 7.

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

  54. Successful donor-lymphocyte infusion for extreme immune-hemolysis following unrelated BMT in a patient with X-linked chronic granulomatous disease and McLeod phenotype.

    Kordes, U., Binder, T., Eiermann, T., Hassenpflug-Diedrich, B., Hassan, M. A., Beutel, K., Nagy, M., Kabisch, H. & Schneppenheim, R., 2008, In: BONE MARROW TRANSPL. 42, 3, p. 219-220 3.

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

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