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Journal Articles

The Von Willebrand Factor Tyr2561 Allele Is a Gain-of-Function Variant and a Potential Risk Factor for Early Myocardial Infarction

Reinhard Schneppenheim, MD PhD, Natalie Hellermann, MD, Maria Alexandra Brehm, PhD, Ulrike Klemm, PhD, Tobias Obser, Volker Huck, PhD, Stefan W Schneider, Cecile V. Denis, PhD, Alexander Tischer, PhD, Matthew Auton, BSc, PhD, Winfried Maerz, MD, Emma-Ruoqi Xu, PhD, Matthias Wilmanns, PhD, Rainer B. Zotz

Blood (2018) 132 (Supplement 1): 2459.

https://doi.org/10.1182/blood-2018-99-116085

Published: 2018

Journal Articles

Clustering of Bleeding Symptoms in Patients Previously Diagnosed As Type 3 Von Willebrand Disease: Results from a Large Cohort of Type 3 Von Willebrand Disease (the 3Winters-Ips Project)

Blood (2018) 132 (Supplement 1): 2465.

https://doi.org/10.1182/blood-2018-99-113996

Published: 2018

Journal Articles

The Prevalence of Hereditary Hemoglobin Disorders and Its Implications for Newborn Screening in Germany

Regine Grosse, MD, Reinhard Schneppenheim, MD PhD, Zoltan Lukacs, PhD, Florian Oyen, Birgit Muntau, Paulina Lukacs, PhD, Bernd Noack, MD

Blood (2014) 124 (21): 4071.

https://doi.org/10.1182/blood.V124.21.4071.4071

Published: 2014

Journal Articles

Pediatric Fanconi Anemia With Secondary AML: A Retrospective Outcome Report From The German AML-BFM Group

Rita Beier, MD, Sayed Hoseini, MD, Britta Maecker-Kolhoff, MD, Reinhard Schneppenheim, MD, PhD, Christine von Neuhoff, MD, Wolfram Ebell, MD, Hansjörg Schmid, MD, Peter Bader, Karoline Ehlert, MD, Karl-Walter Sykora, MD, Ursula Creutzig, MD, Christian Kratz, Mwe Mwe Chao, MD, Dirk Reinhardt, Martin G. Sauer, MD

Blood (2013) 122 (21): 1414.

https://doi.org/10.1182/blood.V122.21.1414.1414

Published: 2013

Journal Articles

Functional Analysis Of TTP-Associated ADAMTS13 Mutants Under Shear Flow

Maria A. Brehm, PhD, Emma Kraus, B.Sc., Tobias Obser, Reinhard Schneppenheim, MD, PhD

Blood (2013) 122 (21): 1094.

https://doi.org/10.1182/blood.V122.21.1094.1094

Published: 2013

Journal Articles

International Registry for Patients with Hereditary Thrombotic Thrombocytopenic Purpura (TTP) – Upshaw-Schulman Syndrome

Magnus Mansouri Taleghani, Yoshihiro Fujimura, MD, PhD, James N. George, MD, Ingrid Hrachovinova, PhD, Paul Knoebl, MD, Bernhard Lämmle, MD, Petter Quist-Paulsen, MD, PhD, Reinhard Schneppenheim, MD, PhD, Johanna A. Kremer Hovinga Strebel, MD

Blood (2012) 120 (21): 4654.

https://doi.org/10.1182/blood.V120.21.4654.4654

Published: 2012

Journal Articles

Characterization of the p.A1461D Mutation Causing Von Willebrand's Disease Type 2B with Severe Thrombocytopenia, Circulating Giant Platelets and Defective α -Granule Secretion

Florian Langer, MD, Tobias Obser, Florian Oyen, Katharina Holstein, MD, Brigitte Spath, Andreas Greinacher, MD, Ulrich Budde, MD, Carsten Bokemeyer, Reinhard Schneppenheim, MD, PhD

Blood (2012) 120 (21): 1074.

https://doi.org/10.1182/blood.V120.21.1074.1074

Published: 2012

Journal Articles

Subcellular Localization of Von Willebrand Factor Mutants Correlates with Particular VWF Multimer Patterns

Maria A. Brehm, PhD, Tobias Obser, Ulrich Budde, MD, Sonja Schneppenheim, MD, Reinhard Schneppenheim, MD, PhD

Blood (2012) 120 (21): 98.

https://doi.org/10.1182/blood.V120.21.98.98

Published: 2012

Journal Articles

Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study

Reinhard Schneppenheim, MD, PhD, Ulrich Budde, MD, Javier Batlle, MD, Giancarlo Castaman, MD, Jeroen C. J. Eikenboom, MD, PhD, Augusto B. Federici, MD, Jenny Goudemand, MD, PhD, Tobias Obser, Florian Oyen, Francesco Rodeghiero, MD, Sonja Schneppenheim, MD, Ian R. Peake, PhD, Anne C. Goodeve, PhD

Blood (2012) 120 (21): 99.

https://doi.org/10.1182/blood.V120.21.99.99

Published: 2012

Journal Articles

Genetic Heterogeneity of Alpha - and Beta - Globin Mutations in a German Multiethnic Population Group

Regine Grosse, MD, Florian Oyen, Belinda Weber, Reinhard Schneppenheim, MD, PhD

Blood (2012) 120 (21): 5185.

https://doi.org/10.1182/blood.V120.21.5185.5185

Published: 2012

Journal Articles

A Novel Missense Mutation Asp69Gly in the Platelet Glycoprotein Ib(beta) Gene in Two Families with Bernard-Soulier Syndrome,

Wolf A Hassenpflug, MD, Belinda Weber, Tobias Obser, Ulrich Budde, MD, Reinhard Schneppenheim, MD, PhD

Blood (2011) 118 (21): 3300.

https://doi.org/10.1182/blood.V118.21.3300.3300

Published: 2011

Journal Articles

Reduced Von Willebrand Factor Secretion Is Associated with Loss of Weibel-Palade Formation

Giancarlo Castaman, MD, Sofia Helene Giacomelli, Paula M. Jacobi, BS, Tobias Obser, Reinhard Schneppenheim, MD, PhD, Sandra L Haberichter, PhD

Blood (2010) 116 (21): 541.

https://doi.org/10.1182/blood.V116.21.541.541

Published: 2010

Journal Articles

Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease

Daniel J. Hampshire, PhD, Lisa D. Bloomer, MSc, Ahlam M. Al-Buhairan, PhD, Rachael E. Coyle, Raymon N. C. P. Vijzelaar, MSc, David Lillicrap, MD, Paula D. James, MD, Jeroen C. J. Eikenboom, MD, PhD, Reinhard Schneppenheim, MD, PhD, Francesco Rodeghiero, MD, Robert R. Montgomery, MD, Ian R. Peake, PhD, Anne C. Goodeve, PhD

Blood (2010) 116 (21): 2218.

https://doi.org/10.1182/blood.V116.21.2218.2218

Published: 2010

Journal Articles

Shear Induced Reversible Conglomerates of Von Willebrand Factor Networks with Aggregates of Inactivated Platelets - a Fast Switchable Plugging Mechanism

Armin J. Reininger, MD, PhD, Marina Napoleone, Jennifer Angerer, Babak Falah, Reinhard Schneppenheim, MD, PhD, Matthias Schneider, Ph.D.

Blood (2010) 116 (21): 2104.

https://doi.org/10.1182/blood.V116.21.2104.2104

Published: 2010

Journal Articles

Detection of GATA1 Mutation in the Blood of 3 Mothers Giving Birth to Children with Trisomie 21 and TMD.

Hartmut Kabisch, MD, Tobias Obser, Sonja Bartl, Uwe Kordes, Martin Blohm, MD, Reinhard Schneppenheim, MD, PhD

Blood (2009) 114 (22): 4680.

https://doi.org/10.1182/blood.V114.22.4680.4680

Published: 2009

Journal Articles

Force Dependent Structural Changes of the Von Willebrand Factor A2 Domain Are Required for VWF Cleavage by ADAMTS13

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

Blood (2008) 112 (11): 589.

https://doi.org/10.1182/blood.V112.11.589.589

Published: 2008

Journal Articles

Molecular Background of “Smeary” von Willebrand Factor Multimers.

Reinhard Schneppenheim, MD, PhD, Olivier Marggraf, Heike Eckert, Tobias Obser, Florian Oyen, Antje Pieconka, Sonja Schneppenheim, MD, Kerstin Will, Ulrich Budde, MD

Blood (2007) 110 (11): 2711.

https://doi.org/10.1182/blood.V110.11.2711.2711

Published: 2007

Journal Articles

Novel Large Deletion Is the Most Frequent Cause of Type 3 von Willebrand Disease in Hungary.

Adrien Mohl, MD, Tamás Masszi, MD, PhD, Eszter Nagy, PhD, Tobias Obser, Florian Oyen, Krisztina Sallai, Imre Bodo, MD, PhD, Reinhard Schneppenheim, MD, PhD

Blood (2006) 108 (11): 1013.

https://doi.org/10.1182/blood.V108.11.1013.1013

Published: 2006

Journal Articles

High Shear Stress and Immobilization of Von Willebrand Factor Promotes the VWF-Cleaving Protease Activity as Assessed by the Cone and Plate(let) Analyzer.

David Varon, MD, Boris Shenkman, MD, PhD, Ulrich Budde, MD, Dorothea Angerhaus, PhD, Reinhard Schneppenheim, MD, Naphtali Savion, PhD, Uri Seligsohn, MD

Blood (2004) 104 (11): 849.

https://doi.org/10.1182/blood.V104.11.849.849

Published: 2004

Journal Articles

Distinction of Inherited from Acquired Thrombotic Thrombocytopenic Purpura Applying the Cone and Plate(Let) Analyzer.

Boris Shenkman, MD, PhD, Ulrich Budde, MD, Dorothea Angerhaus, PhD, Reinhard Schneppenheim, MD, Aharon Lubetsky, MD, Naphtali Savion, PhD, Uri Seligsohn, MD, David Varon, MD

Blood (2004) 104 (11): 853.

https://doi.org/10.1182/blood.V104.11.853.853

Published: 2004

NARROW

The Von Willebrand Factor Tyr2561 Allele Is a Gain-of-Function Variant and a Potential Risk Factor for Early Myocardial Infarction

Clustering of Bleeding Symptoms in Patients Previously Diagnosed As Type 3 Von Willebrand Disease: Results from a Large Cohort of Type 3 Von Willebrand Disease (the 3Winters-Ips Project)

The Prevalence of Hereditary Hemoglobin Disorders and Its Implications for Newborn Screening in Germany

Pediatric Fanconi Anemia With Secondary AML: A Retrospective Outcome Report From The German AML-BFM Group

Functional Analysis Of TTP-Associated ADAMTS13 Mutants Under Shear Flow

International Registry for Patients with Hereditary Thrombotic Thrombocytopenic Purpura (TTP) – Upshaw-Schulman Syndrome

Characterization of the p.A1461D Mutation Causing Von Willebrand's Disease Type 2B with Severe Thrombocytopenia, Circulating Giant Platelets and Defective α -Granule Secretion

Subcellular Localization of Von Willebrand Factor Mutants Correlates with Particular VWF Multimer Patterns

Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study

Genetic Heterogeneity of Alpha - and Beta - Globin Mutations in a German Multiethnic Population Group

A Novel Missense Mutation Asp69Gly in the Platelet Glycoprotein Ib(beta) Gene in Two Families with Bernard-Soulier Syndrome,

Reduced Von Willebrand Factor Secretion Is Associated with Loss of Weibel-Palade Formation

Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease

Shear Induced Reversible Conglomerates of Von Willebrand Factor Networks with Aggregates of Inactivated Platelets - a Fast Switchable Plugging Mechanism

Detection of GATA1 Mutation in the Blood of 3 Mothers Giving Birth to Children with Trisomie 21 and TMD.

Force Dependent Structural Changes of the Von Willebrand Factor A2 Domain Are Required for VWF Cleavage by ADAMTS13

Molecular Background of “Smeary” von Willebrand Factor Multimers.

Novel Large Deletion Is the Most Frequent Cause of Type 3 von Willebrand Disease in Hungary.

High Shear Stress and Immobilization of Von Willebrand Factor Promotes the VWF-Cleaving Protease Activity as Assessed by the Cone and Plate(let) Analyzer.

Distinction of Inherited from Acquired Thrombotic Thrombocytopenic Purpura Applying the Cone and Plate(Let) Analyzer.

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American Society of Hematology

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American Society of Hematology

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