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Journal Articles

Profile of Mutations Identified in the 3WINTERS-IPS Project on European & Iranian Patients with Previously Diagnosed Type 3 Von Willebrand Disease.

Luciano Baronciani, PhD, Flora Peyvandi, MD PhD, Anne Goodeve, PhD, Reinhard Schneppenheim, MDPhD, Zahra Badiee, Mohammad-Reza Baghaipour, Javier Battle, Erik Berntorp, MD PhD, Imre Bodó, MD PhD, Ulrich Budde, MD, Andrea Cairo, PhD, Giancarlo Castaman, Laura Crookes, Jeroen C.J. Eikenboom, MD, Peyman Eshghi, MD, Cosimo Ettorre, MD, Jenny Goudemand, MD PhD, Wolf Hassenpflug, Charles Richard Morris Hay, MDFRCP,FRCPath, Hamid Hoorfar, MD, Mehran Karimi, MD, Bijan Keikhaei, Riitta Lassila, MD PR, Frank W.G. Leebeek, MD PhD, Maria Fernanda Lopez Fernandez, Pier Mannuccio Mannucci, MD, Maria Gabriella Mazzucconi, MD, Massimo Morfini, MD, Nikolas Nikšić, Johannes Oldenburg, Florian Oyen, Rafael Parra Lòpez, Ian Peake, PhD, Gholamreza Toogeh, Alberto Tosetto, Marc Trossaert, Sayed Omid Reza Zekavat, MD, Eva M.K. Zetterberg, MD PhD, Augusto B Federici, MD

Blood (2018) 132 (Supplement 1): 1184.

https://doi.org/10.1182/blood-2018-99-114702

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

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

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 cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

Reinhard Schneppenheim, Jan Jacques Michiels, Tobias Obser, Florian Oyen, Antje Pieconka, Sonja Schneppenheim, Kerstin Will, Barbara Zieger, Ulrich Budde

Blood (2010) 115 (23): 4894–4901.

https://doi.org/10.1182/blood-2009-07-226324

Published: 2010

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

UNC13D and PRF1 Mutations in Childhood Patients with Hemophagocytic Lymphohistiocytosis.

Udo zur Stadt, Karin Beutel, Florian Oyen, A. Sarper Diler, Hartmut Kabisch, Reinhard Schneppenheim, Hans-Christian Hennies, Gritta Janka

Blood (2004) 104 (11): 1334.

https://doi.org/10.1182/blood.V104.11.1334.1334

Published: 2004

Journal Articles

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP

Reinhard Schneppenheim, Ulrich Budde, Florian Oyen, Dorothea Angerhaus, Volker Aumann, Elke Drewke, Wolf Hassenpflug, Johannes Häberle, Karim Kentouche, Elisabeth Kohne, Karin Kurnik, Dirk Mueller-Wiefel, Tobias Obser, René Santer, Karl-Walter Sykora

Blood (2003) 101 (5): 1845–1850.

https://doi.org/10.1182/blood-2002-08-2399

Published: 2003

NARROW

Profile of Mutations Identified in the 3WINTERS-IPS Project on European & Iranian Patients with Previously Diagnosed Type 3 Von Willebrand Disease.

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

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

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 cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

Molecular Background of “Smeary” von Willebrand Factor Multimers.

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

UNC13D and PRF1 Mutations in Childhood Patients with Hemophagocytic Lymphohistiocytosis.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP

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American Society of Hematology

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ASH Publications

American Society of Hematology

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