Search Results - "SCHNEPPENHEIM, R"

von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein by SCHNEPPENHEIM, R., BUDDE, U.

“…von Willebrand disease (VWD), the most common inherited bleeding disorder in humans, is characterised by a prolonged bleeding time due to quantitative and/or…”
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Platelet‐dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH by Bodó, I., Eikenboom, J., Montgomery, R., Patzke, J., Schneppenheim, R., Di Paola, J.

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

“…von Willebrand disease (VWD) is a bleeding disorder caused by inherited defects in the concentration, structure, or function of von Willebrand factor (VWF)…”
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A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD) by 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.

“…Background: A quantitative description of bleeding symptoms in type 1 von Willebrand disease (VWD) has never been reported. Objectives: The aim was to…”
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Shear‐induced unfolding activates von Willebrand factor A2 domain for proteolysis by BALDAUF, C., SCHNEPPENHEIM, R., STACKLIES, W., OBSER, T., PIECONKA, A., SCHNEPPENHEIM, S., BUDDE, U., ZHOU, J., GRÄTER, F.

“…Background: To avoid pathological platelet aggregation by von Willebrand factor (VWF), VWF multimers are regulated in size and reactivity for adhesion by…”
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An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS‐VWF study by Szederjesi, A., Baronciani, L., Budde, U., Castaman, G., Lawrie, A. S., Liu, Y., Montgomery, R., Peyvandi, F., Schneppenheim, R., Várkonyi, A., Patzke, J., Bodó, I.

“…Essentials New VWF activity assays are increasingly used but information on their comparability is limited. This is an ISTH SSC‐organized study (expert labs, 5…”
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Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami by Obser, T., Ledford‐Kraemer, M., Oyen, F., Brehm, M. A., Denis, C. V., Marschalek, R., Montgomery, R. R., Sadler, J. E., Schneppenheim, S., Budde, U., Schneppenheim, R.

“…Essentials Von Willebrand disease IIC Miami features high von Willebrand factor (VWF) with reduced function. We aimed to identify and characterize the elusive…”
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High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB) by Benesch, M, Bartelheim, K, Fleischhack, G, Gruhn, B, Schlegel, P G, Witt, O, Stachel, K D, Hauch, H, Urban, C, Quehenberger, F, Massimino, M, Pietsch, T, Hasselblatt, M, Giangaspero, F, Kordes, U, Schneppenheim, R, Hauser, P, Klingebiel, T, Frühwald, M C

“…A retrospective analysis of data from the European Rhabdoid Registry (EU-RHAB) was performed to describe the outcome of children with atypical…”
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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) by 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.

“…Background: Type 1 von Willebrand disease (VWD) is a congenital bleeding disorder characterized by a partial quantitative deficiency of plasma von Willebrand…”
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Glial papillary tumour of the spinal cord with SMARCB1/INI1‐loss and favourable long‐term outcome by Hasselblatt, M., Kurniawan, A. D., Rozsnoki, S., Johann, P. D., Bens, S., Oyen, F., Schneppenheim, R., Siebert, R., Capper, D., Kool, M., Schul, C., Paulus, W.

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Laboratory diagnosis of von Willebrand disease by Patzke, J, Schneppenheim, R

“…Over the last decade, considerable progress has been made in the laboratory diagnosis of VWD. Precise, sensitive and automated VWF:Ag assays became widely…”
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Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor by Bockmeyer, Clemens L, Claus, Ralf A, Budde, Ulrich, Kentouche, Karim, Schneppenheim, Reinhard, Losche, Wolfgang, Reinhart, Konrad, Brunkhorst, Frank M

“…1 Department of Anaesthesiology and Intensive Care Medicine, University Hospital, Friedrich-Schiller-University, Jena 2 Lab-Association Prof. Arndt and…”
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Interactions of von Willebrand factor and ADAMTS13 in von Willebrand disease and thrombotic thrombocytopenic purpura by Budde, U, Schneppenheim, R

“…The function of von Willebrand factor (VWF), a huge multimeric protein and a key factor in platelet dependent primary haemostasis, is regulated by its specific…”
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Identification of novel NOTCH1 mutations: Increasing our knowledge of the NOTCH signaling pathway by Gallo Llorente, L., Luther, H., Schneppenheim, R., Zimmermann, M., Felice, M., Horstmann, M.A.

“…Background Alterations in the NOTCH1 signaling pathway are found in about 60% of pediatric T‐ALL, but its impact on prognosis remains unclear. Procedure We…”
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Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady by Maurer, M, Mesters, R, Schneppenheim, R, Streif, W

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Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease by Ahmad, F., Oyen, F., Jan, R., Budde, U., Schneppenheim, R., Saxena, R.

“…Summary Linkage analysis in autosomal inherited von Willebrand disease (VWD) is important to diagnose the carriers and reduce the burden of severe type VWD…”
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Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry by Seeringer, A, Bartelheim, K, Kerl, K, Hasselblatt, M, Leuschner, I, Rutkowski, S, Timmermann, B, Kortmann, R-D, Koscielniak, E, Schneppenheim, R, Warmuth-Metz, M, Gerß, J, Siebert, R, Graf, N, Boos, J, Frühwald, M C

“…Rhabdoid tumors mainly affect infants and other very young children with a marked vulnerability towards intensive therapy such as invasive surgery, high dose…”
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Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project by Maurer, M, Mesters, R, Schneppenheim, R, Knoefler, R, Streif, W

“…Primary haemostasis defects comprise von Willebrand disease (VWD) and platelet disorders (PD). Although presenting with mild to moderate bleeding tendency in…”
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Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry by Mansouri Taleghani, M, von Krogh, A-S, Fujimura, Y, George, J N, Hrachovinová, I, Knöbl, P N, Quist-Paulsen, P, Schneppenheim, R, Lämmle, B, Kremer Hovinga, J A

“…Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13 Hereditary thrombotic thrombocytopenic purpura (TTP), also known as…”
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Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations by Jokela, V., Lassila, R., Szanto, T., Joutsi-Korhonen, L., Armstrong, E., Oyen, F., Schneppenheim, S., Schneppenheim, R.

“…Summary Severe von Willebrand's disease (VWD) type 3 is a rare autosomal‐recessively inherited bleeding disorder, showing considerable genotypic heterogeneity…”
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