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1

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw–Schulman Syndrome Investigated in Germany

Hassenpflug, Wolf, Obser, Tobias, Bode, Julia, Oyen, Florian, Budde, Ulrich, Schneppenheim, Sonja, Schneppenheim, Reinhard, Brehm, Maria

Journal:

Thrombosis and Haemostasis

Année:

2018

Langue:

english

Fichier:

PDF, 571 KB

english, 2018

2

Characterization of VWF gene conversions causing von Willebrand disease

Ahmad, Firdos, Kannan, Meganathan, Obser, Tobias, Budde, Ulrich, Schneppenheim, Sonja, Saxena, Renu, Schneppenheim, Reinhard

Journal:

British Journal of Haematology

Année:

2018

Langue:

english

Fichier:

PDF, 336 KB

english, 2018

3

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe

René Santer, Johannes Rischewski, Michaela von Weihe, Marko Niederhaus, Sonja Schneppenheim, Kurt Baerlocher, Alfried Kohlschütter, Ania Muntau, Hans-Georg Posselt, Beat Steinmann, Reinhard Schneppenh

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 162 KB

english, 2005

4

Genetic heterogeneity of severe von Willebrand disease type III in the German population

Reinhard Schneppenheim, Sonja Krey, Frauke Bergmann, Dietrich Bock, Ulrich Budde, Malte Lange, Richard Linde, Uwe Mittler, Esther Meili, Günter Mertes, Klaus Olek, Hansjörg Plendl, Eva Simeoni

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.69 MB

english, 1994

5

Identification of a candidate missense mutation in a family with von Willebrand disease type IIC

Reinhard Schneppenheim, Kathy B. Thomas, Sonja Krey, Ulrich Budde, Ursula Jessat, Anton H. Sutor, Barbara Zieger

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 833 KB

english, 1995

6

Inherited Thrombotic Thrombocytopenic Purpura in Children

Hassenpflug, Wolf, Budde, Ulrich, Schneppenheim, Sonja, Schneppenheim, Reinhard

Journal:

Seminars in Thrombosis and Hemostasis

Année:

2014

Langue:

english

Fichier:

PDF, 221 KB

english, 2014

7

Obituary.

Baldauf, Carsten, Obser, Tobias, Pieconka, Antje, Schneppenheim, Sonja, Budde, Ulrich, Schneppenheim, Reinhard, Graeter, Frauke

Journal:

Année:

1916

Langue:

english

Fichier:

PDF, 211 KB

english, 1916

8

Function And Activity Of Von Willebrand Factor Is Regulated By A Hierarchy Of Mechanical Forces

Baldauf, Carsten, Obser, Tobias, Pieconka, Antje, Schneppenheim, Sonja, Budde, Ulrich, Schneppenheim, Reinhard, Graeter, Frauke

Journal:

Biophysical Journal

Année:

2009

Langue:

english

Fichier:

PDF, 36 KB

english, 2009

9

Distinct mechanisms account for acquired von Willebrand syndrome in plasma cell dyscrasias

Dicke, Christina, Schneppenheim, Sonja, Holstein, Katharina, Spath, Brigitte, Bokemeyer, Carsten, Dittmer, Rita, Budde, Ulrich, Langer, Florian

Journal:

Annals of Hematology

Année:

2016

Langue:

english

Fichier:

PDF, 856 KB

english, 2016

10

Von Willebrand factor regulates complement on endothelial cells

Noone, Damien G., Riedl, Magdalena, Pluthero, Fred G., Bowman, Mackenzie L., Liszewski, M. Kathryn, Lu, Lily, Quan, Yi, Balgobin, Steve, Schneppenheim, Reinhard, Schneppenheim, Sonja, Budde, Ulrich, J

Journal:

Kidney International

Année:

2016

Langue:

english

Fichier:

PDF, 3.97 MB

english, 2016

11

Plasmin Cleaves Von Willebrand Factor at K1491-R1492 in the A1–A2 Linker Region in a Shear- and Glycan-Dependent Manner In VitroHighlights

Brophy, Teresa M., Ward, Soracha E., McGimsey, Thomas R., Schneppenheim, Sonja, Drakeford, Clive, O’Sullivan, Jamie M., Chion, Alain, Budde, Ulrich, O’Donnell, James S.

Journal:

Arteriosclerosis Thrombosis and Vascular Biology

Année:

2017

Langue:

english

Fichier:

PDF, 1.31 MB

english, 2017

12

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels

Lavin, Michelle, Aguila, Sonia, Schneppenheim, Sonja, Dalton, Niall, Jones, Kenneth L., O'Sullivan, Jamie M., O'Connell, Niamh M., Ryan, Kevin, White, Barry, Byrne, Mary, Rafferty, Marie, Doyle, Maire

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 429 KB

english, 2017

13

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor

Brehm, Maria A., Huck, Volker, Aponte-Santamaría, Camilo, Obser, Tobias, Grässle, Sandra, Oyen, Florian, Budde, Ulrich, Schneppenheim, Sonja, Baldauf, Carsten, Gräter, Frauke, Schneider, Stefan W., Sc

Journal:

Thrombosis and Haemostasis

Année:

2014

Langue:

english

Fichier:

PDF, 11.52 MB

english, 2014

14

Link between von Willebrand factor multimers, relapses and coronary microcirculation in patients with thrombotic thrombocytopenic purpura in remission

Di Pasquale, Irene, Budde, Ulrich, Tona, Francesco, Bertomoro, Antonella, Lombardi, Anna Maria, Famoso, Giulia, Bertozzi, Irene, Dittmer, Rita, Schneppenheim, Sonja, Fabris, Fabrizio

Journal:

Thrombosis Research

Année:

2018

Langue:

english

Fichier:

PDF, 863 KB

english, 2018

15

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

Schneppenheim, Reinhard, Lenk, Harald, Obser, Tobias, Oldenburg, Johannes, Oyen, Florian, Schneppenheim, Sonja, Schwaab, Rainer, Will, Kerstin, Budde, Ulrich

Journal:

Thrombosis and Haemostasis

Année:

2004

Langue:

english

Fichier:

PDF, 3.87 MB

english, 2004

16

Von Willebrand Disease Type 2M “Vicenza” in Italian and German Patients: Identification of the First Candidate Mutation (G3864A; R1205H) in 8 Families

Schneppenheim, Reinhard, Federici, Augusto, Budde, Ulrich, Castaman, Giancarlo, Drewke, Elke, Krey, Sonja, Mannucci, Pier, Riesen, Gabi, Rodeghiero, Francesco, Zieger, Barbara, Zimmermann, Rainer

Journal:

Thrombosis and Haemostasis

Année:

2000

Langue:

english

Fichier:

PDF, 104 KB

english, 2000

17

Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations

König, Gesa, Obser, Tobias, Marggraf, Olivier, Schneppenheim, Sonja, Budde, Ulrich, Schneppenheim, Reinhard, Brehm, Maria

Journal:

Thrombosis and Haemostasis

Année:

2019

Langue:

english

Fichier:

PDF, 505 KB

english, 2019

18

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation

Letzer, Anton, Lehmann, Katja, Mess, Christian, KÃ¶nig, Gesa, Obser, Tobias, Peine, Sven, Schneppenheim, Sonja, Budde, Ulrich, Schneider, Stefan W., Schneppenheim, Reinhard, Brehm, Maria A., Garcia de

Journal:

Année:

2020

Fichier:

PDF, 2.26 MB

2020