Research ExplorerScientific StaffReinhard Schneppenheim Publications

Prof.Dr. ID: 63353

Reinhard Schneppenheim

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Publications

  1. 2007

  2. Thrombotic microangiopathy in a 17-year-old Patient: TTP, HUS or a bit of both?

    Gerth, J., Busch, M., Oyen, F., Schneppenheim, R., Keller, T., Budde, U., Groene, H-J. & Wolf, G., 12.2007, In: CLIN NEPHROL. 68, 6, p. 405-411 7 p., 6.

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

  3. Podocytes express ADAMTS13 in normal renal cortex and in patients with thrombotic thrombocytopenic purpura

    Manea, M., Kristoffersson, A., Schneppenheim, R., Saleem, M. A., Mathieson, P. W., Mörgelin, M., Björk, P., Holmberg, L. & Karpman, D., 09.2007, In: BRIT J HAEMATOL. 138, 5, p. 651-62 12 p.

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

  4. Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient

    Gadisseur, A. P., Vrelust, I., Vangenechten, I., Schneppenheim, R. & Van der Planken, M., 08.2007, In: THROMB HAEMOSTASIS. 98, 2, p. 464-6 3 p.

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

  5. Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

    Jakubiczka, S., Bettecken, T., Mohnike, K., Schneppenheim, R., Stumm, M., Tönnies, H., Volleth, M. & Wieacker, P., 07.2007, In: EUR J PEDIATR. 166, 7, p. 743-5 3 p.

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

  6. Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD)

    Tosetto, A., Rodeghiero, F., Castaman, G., Bernardi, M., Bertoncello, K., Goodeve, A., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Eikenboom, J., Schneppenheim, R., Budde, U., Ingerslev, J., Vorlova, Z., Habart, D., Holmberg, L., Lethagen, S., Pasi, J., Hill, F. & Peake, I., 04.2007, In: J THROMB HAEMOST. 5, 4, p. 715-21 7 p.

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

  7. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

    Goodeve, A., Eikenboom, J., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Schneppenheim, R., Budde, U., Ingerslev, J., Habart, D., Vorlova, Z., Holmberg, L., Lethagen, S., Pasi, J., Hill, F., Hashemi Soteh, M., Baronciani, L., Hallden, C., Guilliatt, A., Lester, W. & Peake, I., 01.01.2007, In: BLOOD. 109, 1, p. 112-21 10 p.

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

  8. 2006

  9. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients

    Tefs, K., Gueorguieva, M., Klammt, J., Allen, C. M., Aktas, D., Anlar, F. Y., Aydogdu, S. D., Brown, D., Ciftci, E., Contarini, P., Dempfle, C-E., Dostalek, M., Eisert, S., Gökbuget, A., Günhan, O., Hidayat, A. A., Hügle, B., Isikoglu, M., Irkec, M., Joss, S. K., Klebe, S., Kneppo, C., Kurtulus, I., Mehta, R. P., Ornek, K., Schneppenheim, R., Seregard, S., Sweeney, E., Turtschi, S., Veres, G., Zeitler, P., Ziegler, M. & Schuster, V., 01.11.2006, In: BLOOD. 108, 9, p. 3021-6 6 p.

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

  10. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

    Sadler, J. E., Budde, U., Eikenboom, J. C. J., Favaloro, E. J., Hill, F. G. H., Holmberg, L., Ingerslev, J., Lee, C. A., Lillicrap, D., Mannucci, P. M., Mazurier, C., Meyer, D., Nichols, W. L., Nishino, M., Peake, I. R., Rodeghiero, F., Schneppenheim, R., Ruggeri, Z. M., Srivastava, A., Montgomery, R. R., Federici, A. B. & Working Party on von Willebrand Disease Classification, 10.2006, In: J THROMB HAEMOST. 4, 10, p. 2103-14 12 p.

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

  11. Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification

    Budde, U., Pieconka, A., Will, K. & Schneppenheim, R., 07.2006, In: SEMIN THROMB HEMOST. 32, 5, p. 514-21 8 p.

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

  12. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD

    Eikenboom, J., Van Marion, V., Putter, H., Goodeve, A., Rodeghiero, F., Castaman, G., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Schneppenheim, R., Budde, U., Ingerslev, J., Vorlova, Z., Habart, D., Holmberg, L., Lethagen, S., Pasi, J., Hill, F. & Peake, I., 01.04.2006, In: J THROMB HAEMOST. 4, 4, p. 774-82 9 p.

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

  13. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)

    Tosetto, A., Rodeghiero, F., Castaman, G., Goodeve, A., Federici, A. B., Batlle, J., Meyer, D., Fressinaud, E., Mazurier, C., Goudemand, J., Eikenboom, J., Schneppenheim, R., Budde, U., Ingerslev, J., Vorlova, Z., Habart, D., Holmberg, L., Lethagen, S., Pasi, J., Hill, F. & Peake, I., 04.2006, In: J THROMB HAEMOST. 4, 4, p. 766-73 8 p.

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

  14. von Willebrand factor-cleaving protease (ADAMTS13) in the course of stem cell transplantation

    Kentouche, K., Zintl, F., Angerhaus, D., Fuchs, D., Hermann, J., Schneppenheim, R. & Budde, U., 01.03.2006, In: SEMIN THROMB HEMOST. 32, 2, p. 98-104 7 p.

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

  15. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

    Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. & Hennies, H. C., 01.2006, In: HUM MUTAT. 27, 1, p. 62-68 7 p., 1.

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

  16. Thrombosis in infants and children

    Schneppenheim, R. & Greiner, J., 2006, In: HEMATOL-AM SOC HEMAT. p. 86-96 11 p.

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

  17. 2005

  18. Angeborenes und erworbenes von-Willebrand-Syndrom

    Schneppenheim, R., Barthels, M. & Budde, U., 01.11.2005, In: HAMOSTASEOLOGIE. 25, 4, p. 367-75 9 p.

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

  19. DHPLC based fraction collection of TCR-gamma rearrangements in childhood ALL: direct sequencing of products amplified by a single or a multiplex PCR approach.

    Zur Stadt, U., Isbarn, H., Schneppenheim, R. & Kabisch, H., 08.2005, In: INT J ONCOL. 27, 2, p. 547-552 6 p., 2.

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

  20. Haemophilia A: from mutation analysis to new therapies

    Graw, J., Brackmann, H-H., Oldenburg, J., Schneppenheim, R., Spannagl, M. & Schwaab, R., 06.2005, In: NAT GENET. 6, 6, p. 488-501 14 p.

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

  21. Hämophilie B (Faktor-IX-Mangel) mit begleitender Faktor-XII-Erniedrigung bei einem Mischlingskater

    Lutze, G., Kutschmann, K., Fürst, K. & Schneppenheim, R., 28.05.2005, In: BERL MUNCH TIERARZTL. 118, 5-6, p. 255-60 6 p.

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

  22. The evolving classification of von Willebrand disease

    Schneppenheim, R., 01.04.2005, In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis. 16 Suppl 1, p. S3-S10

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

  23. Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update

    Schneppenheim, R. & Budde, U., 01.2005, In: SEMIN HEMATOL. 42, 1, p. 15-28 14 p.

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

  24. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

    Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.

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

  25. 2004

  26. Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)

    Licht, C., Stapenhorst, L., Simon, T., Budde, U., Schneppenheim, R. & Hoppe, B., 01.09.2004, In: KIDNEY INT. 66, 3, p. 955-8 4 p.

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

  27. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.

    Schneppenheim, R., Lenk, H., Obser, T., Oldenburg, J., Oyen, F., Schneppenheim, S., Schwaab, R., Will, K. & Budde, U., 07.2004, In: THROMB HAEMOSTASIS. 92, 1, p. 36-41 6 p., 1.

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

  28. Diagnose der thrombotisch-thrombozytopenischen Purpura

    Budde, U., Angerhaus, D., Obser, T. & Schneppenheim, R., 01.02.2004, In: HAMOSTASEOLOGIE. 24, 1, p. 65-70 6 p., 1.

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

  29. Molekulare Genetik des von-Willebrand-Syndroms

    Schneppenheim, R., 01.02.2004, In: HAMOSTASEOLOGIE. 24, 1, p. 37-43 7 p.

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

  30. Standardisierte Diagnostik des von-Willebrand-Syndroms

    Budde, U., Drewke, E., Will, K. & Schneppenheim, R., 01.02.2004, In: HAMOSTASEOLOGIE. 24, 1, p. 12-26 15 p.

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

  31. Thrombotisch-thrombozytopenische Purpura im Kindesalter

    Hassenpflug, W-A., Angerhaus, D., Budde, U., Obser, T. & Schneppenheim, R., 01.02.2004, In: HAMOSTASEOLOGIE. 24, 1, p. 71-6 6 p.

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

  32. 2003

  33. Identification and characterisation of clonal incomplete T-cell-receptor Vdelta2-Ddelta3/Ddelta2-Ddelta3 rearrangements by denaturing high-performance liquid chromatography and subsequent fragment collection: implications for minimal residual disease monitoring in childhood acute lymphoblastic leukemia

    zur Stadt, U., Eckert, C., Rischewski, J., Michael, K., Golta, S., Müller, M., Schneppenheim, R. & Kabisch, H., 25.07.2003, In: J CHROMATOGR B. 792, 2, p. 287-98 12 p.

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

  34. 2% Hämophilie-A-Patienten ohne Mutation im FVIII-Gen

    Uen, C., Oldenburg, J., Schröder, J., Brackmann, H-J., Schramm, W., Schwaab, R., Schneppenheim, R. & Graw, J., 01.02.2003, In: HAMOSTASEOLOGIE. 23, 1, p. 1-5 5 p.

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

  35. 2002

  36. 11 hemophilia A patients without mutations in the factor VIII encoding gene

    Klopp, N., Oldenburg, J., Uen, C., Schneppenheim, R. & Graw, J., 01.08.2002, In: THROMB HAEMOSTASIS. 88, 2, p. 357-60 4 p.

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

  37. Laboratory diagnosis of congenital von Willebrand disease

    Budde, U., Drewke, E., Mainusch, K. & Schneppenheim, R., 01.04.2002, In: SEMIN THROMB HEMOST. 28, 2, p. 173-90 18 p.

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

  38. Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma

    Kentouche, K., Budde, U., Furlan, M., Scharfe, V., Schneppenheim, R. & Zintl, F., 01.01.2002, In: ACTA PAEDIATR. 91, 10, p. 1056-9 4 p.

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

  39. 2001

  40. Von Willebrand factor and von Willebrand disease

    Budde, U. & Schneppenheim, R., 12.2001, In: Reviews in clinical and experimental hematology. 5, 4, p. 335-68; quiz following 431

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

  41. Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia

    zur Stadt, U., Rischewski, J., Schneppenheim, R. & Kabisch, H., 01.11.2001, In: CLIN CHEM. 47, 11, p. 2003-11 9 p.

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

  42. Successful treatment of Pseudomonas aeruginosa respiratory tract infection with a sugar solution--a case report on a lectin based therapeutic principle

    von Bismarck, P., Schneppenheim, R. & Schumacher, U., 03.10.2001, In: KLIN PADIATR. 213, 5, p. 285-7 3 p.

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

  43. Quantification and facilitated comparison of von Willebrand factor multimer patterns by densitometry

    Studt, J. D., Budde, U., Schneppenheim, R., Eisert, R., von Depka Prondzinski, M., Ganser, A. & Barthels, M., 01.10.2001, In: AM J CLIN PATHOL. 116, 4, p. 567-74 8 p.

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

  44. A molecular approach to the classification of von Willebrand disease

    Schneppenheim, R., Budde, U. & Ruggeri, Z. M., 01.06.2001, In: BEST PRACT RES CL HA. 14, 2, p. 281-98 18 p.

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

  45. Familial Williams-Beuren syndrome showing varying clinical expression

    Pankau, R., Siebert, R., Kautza, M., Schneppenheim, R., Gosch, A., Wessel, A. & Partsch, C. J., 01.02.2001, In: Am J Med Genet. 98, 4, p. 324-9 6 p.

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

  46. Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene

    Rischewski, J. & Schneppenheim, R., 30.01.2001, In: J BIOCHEM BIOPH METH. 47, 1-2, p. 53-64 12 p.

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

  47. 2000

  48. A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy

    Rischewski, J. R., Clausen, H., Leber, V., Niemeyer, C., Ritter, J., Schindler, D. & Schneppenheim, R., 20.09.2000, In: KLIN PADIATR. 212, 4, p. 174-6 3 p.

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

  49. An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation

    Castaman, G., Missiaglia, E., Federici, A. B., Schneppenheim, R. & Rodeghiero, F., 01.08.2000, In: THROMB HAEMOSTASIS. 84, 2, p. 350-1 2 p.

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

  50. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

    Santer, R., Rischewski, J., Block, G., Kinner, M., Wendel, U., Schaub, J. & Schneppenheim, R., 08.2000, In: HUM MUTAT. 16, 2, p. 177 2.

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

  51. Hereditary fructose intolerance and alpha(1) antitrypsin deficiency

    Hillebrand, G., Schneppenheim, R., Oldigs, H. D. & Santer, R., 01.07.2000, In: ARCH DIS CHILD. 83, 1, p. 72-3 2 p.

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

  52. Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients

    Pankau, R., Partsch, C. J., Gosch, A., Siebert, R., Schneider, M., Schneppenheim, R., Winter, M. & Wessel, A., 10.04.2000, In: Am J Med Genet. 91, 4, p. 322-4 3 p.

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

  53. Paraneoplastic cerebellar degeneration in pediatric Hodgkin disease

    Hahn, A., Claviez, A., Brinkmann, G., Altermatt, H. J., Schneppenheim, R. & Stephani, U., 01.02.2000, In: NEUROPEDIATRICS. 31, 1, p. 42-4 3 p.

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

  54. Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families

    Schneppenheim, R., Federici, A. B., Budde, U., Castaman, G., Drewke, E., Krey, S., Mannucci, P. M., Riesen, G., Rodeghiero, F., Zieger, B. & Zimmermann, R., 01.01.2000, In: THROMB HAEMOSTASIS. 83, 1, p. 136-40 5 p.

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

  55. 1999

  56. A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP--or von Willebrand type 2B alone?

    Rauch, R., Budde, U., Schneppenheim, R., Ries, M., Girisch, M. & Klinge, J., 01.12.1999, In: EUR J PEDIATR. 158 Suppl 3, p. S171-3

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

  57. Intracerebral hemorrhage as a late complication after CNS treatment of childhood lymphoma

    Claviez, A., Neubauer, B., Link, J. & Schneppenheim, R., 01.01.1999, In: KLIN PADIATR. 210, 6, p. 406-8 3 p.

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

  58. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome

    Partsch, C. J., Dreyer, G., Gosch, A., Winter, M., Schneppenheim, R., Wessel, A. & Pankau, R., 01.01.1999, In: J PEDIATR-US. 134, 1, p. 82-9 8 p.

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

  59. 1998

  60. Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism

    Santer, R., Schneppenheim, R., Dombrowski, A., Götze, H., Steinmann, B. & Schaub, J., 06.1998, In: J INHERIT METAB DIS. 21, 3, p. 191-194 4 p., 3.

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

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