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Journal Articles

Treatment and Follow-up Data for Young Patients with a Gne Defect and Congenital Thrombocytopenia

Barbara Zieger, Karin M. Hoffmeister, Alfred Leipold, Eva-Maria Kornemann, Miriam Erlacher, Doris Boeckelmann

Blood (2023) 142 (Supplement 1): 3963.

https://doi.org/10.1182/blood-2023-180620

Published: 2023

Journal Articles

N ovel Splice-Site Mutation in RASGRP2 Leading to Caldag-GEFI Deficiency

Doris Boeckelmann, PhD, Antonia Lenz, MS, Salome Fels, MS, Felicia Loewecke, MD, Ekkehart Lausch, MD, Barbara Zieger, MD

Blood (2020) 136 (Supplement 1): 16–17.

https://doi.org/10.1182/blood-2020-139153

Published: 2020

Journal Articles

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Matthew C. Sims, Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres, Laxmikanth Kollipara, Frances S. Burden, Daniel Greene, Dave Lee, Antonio Rodriguez-Romera, Marie-Christine Alessi, William J. Astle, Wadie F. Bahou, Loredana Bury, Elizabeth Chalmers, Rachael Da Silva, Erica De Candia, Sri V. V. Deevi, Samantha Farrow, Keith Gomez, Luigi Grassi, Andreas Greinacher, Paolo Gresele, Dan Hart, Marie-Françoise Hurtaud, Anne M. Kelly, Ron Kerr, Sandra Le Quellec, Thierry Leblanc, Eva B. Leinøe, Rutendo Mapeta, Harriet McKinney, Alan D. Michelson, Sara Morais, Diane Nugent, Sofia Papadia, Soo J. Park, John Pasi, Gian Marco Podda, Man-Chiu Poon, Rachel Reed, Mallika Sekhar, Hanna Shalev, Suthesh Sivapalaratnam, Orna Steinberg-Shemer, Jonathan C. Stephens, Robert C. Tait, Ernest Turro, John K. M. Wu, Barbara Zieger, NIHR BioResource, Taco W. Kuijpers, Anthony D. Whetton, Albert Sickmann, Kathleen Freson, Kate Downes, Wendy N. Erber, Mattia Frontini, Paquita Nurden, Willem H. Ouwehand, Remi Favier, Jose A. Guerrero

Blood (2020) 136 (17): 1956–1967.

https://doi.org/10.1182/blood.2019004776

Published: 2020

Includes: Supplemental data

Journal Articles

Detection and Differential Diagnosis of Prekallikrein Deficiency: Genetic Study of New Families and Systematic Review of the Literature

Stefano Barco, Stefanie Sollfrank, Alice Trinchero, Luigi Tomao, Barbara Zieger, Johanna A. Kremer Hovinga, MD Prof, Laura Conti, Anke Adenäuer, Erwin Miloni, Karl J. Lackner, Heidi Rossmann, Bernhard Lammle, MD

Blood (2018) 132 (Supplement 1): 2496.

https://doi.org/10.1182/blood-2018-99-116030

Published: 2018

Journal Articles

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Arnaud Dupuis, PhD, Doris Böckelmann, PhD, Patricia Laeuffer, Katharina Neubauer, PhD, Christian Gachet, MD PhD, Barbara Zieger

Blood (2018) 132 (Supplement 1): 1154.

https://doi.org/10.1182/blood-2018-99-112833

Published: 2018

Journal Articles

Improved Values for Acquired Von Willebrand Syndrome and Better Clinical Outcome in Patients with Heartmate III Compared to Heartmate II

Ulrich Geisen, MD, Kerstin Brehm, MD, Georg Trummer, MD, Friedhelm Beyersdorf, MD, Michael Berchtold-Herz, MD, Claudia Heilmann, MD, Johannes Schelling, MD, Axel Schlagenhauf, PhD, Barbara Zieger, MD

Blood (2016) 128 (22): 2582.

https://doi.org/10.1182/blood.V128.22.2582.2582

Published: 2016

Journal Articles

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Anne Rensing-Ehl, Ulrich Pannicke, Stefanie-Yvonne Zimmermann, Myriam Ricarda Lorenz, Benedicte Neven, Ilka Fuchs, Ulrich Salzer, Carsten Speckmann, Anne Strauss, Eberhard Maaβ, Benedicte Collet, Anselm Enders, Remi Favier, Marie Christine Alessi, Frederic Rieux-Laucat, Barbara Zieger, Klaus Schwarz, Stephan Ehl

Blood (2015) 126 (16): 1967–1969.

https://doi.org/10.1182/blood-2015-06-654145

Published: 2015

Journal Articles

Identification of a new dysfunctional platelet P2Y 12 receptor variant associated with bleeding diathesis

Anna Lecchi, Cristina Razzari, Silvia Paoletta, Arnaud Dupuis, Lea Nakamura, Philippe Ohlmann, Christian Gachet, Kenneth A. Jacobson, Barbara Zieger, Marco Cattaneo

Blood (2015) 125 (6): 1006–1013.

https://doi.org/10.1182/blood-2013-07-517896

Published: 2015

Journal Articles

First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3)

Lea Nakamura, Anne Bertling, Martin F. Brodde, Udo zur Stadt, Ansgar S. Schulz, Sandra Ammann, Kirstin Sandrock-Lang, Karin Beutel, Barbara Zieger, Beate E. Kehrel

Blood (2015) 125 (2): 412–414.

https://doi.org/10.1182/blood-2014-07-587568

Published: 2015

Journal Articles

Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice

Simon Stritt, Markus Bender, Paquita Nurden, MD PhD, Judith van Eeuwijk, Barbara Zieger, Prof, Karim Kentouche, MD, Harald Schulze, Prof, Henner Morbach, MD, David Stegner, PhD, Katrin G Heinze, PhD, Sebastian Dütting, PhD, Shuchi Gupta, PhD, Walter Witke, Prof, Hervé Falet, PhD, Alain Fischer, Prof, John H. Hartwig, Prof, Bernhard Nieswandt, Prof

Blood (2014) 124 (21): 4200.

https://doi.org/10.1182/blood.V124.21.4200.4200

Published: 2014

Journal Articles

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency

Lea Nakamura, Kirstin Sandrock-Lang, Carsten Speckmann, Thomas Vraetz, Martina Bührlen, Stephan Ehl, Johan W. M. Heemskerk, Barbara Zieger

Blood (2013) 122 (22): 3696–3698.

https://doi.org/10.1182/blood-2013-08-522037

Published: 2013

Journal Articles

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

Blood (2013) 121 (15): 2943–2951.

https://doi.org/10.1182/blood-2012-10-463166

Published: 2013

Includes: Supplemental data

Journal Articles

International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome

Anna Savoia, PhD, Shinji Kunishima, PhD, Patrizia Noris, MD, Nuria Pujol-Moix, MD, Dermot Kenny, MD, Nurit Rosenberg, Margaret L. Rand, PhD, Barbara Zieger, MD, Ali F. Gargouri, PhD, Miriam P Beltrame, Felisa C. Molinas, MD, PhD, Mehran Karimi, MD, Christopher Ward, MB, CHB, PhD, Philip Kuriakose, MD, Nadia Ewing, MD, Carol Diamond, MD, Alok Srivastava, MD, Carlo Luigi Balduini, MD, Francois Lanza, PhD, MD

Blood (2011) 118 (21): 707.

https://doi.org/10.1182/blood.V118.21.707.707

Published: 2011

Journal Articles

Patients with Hermansky-Pudlak Syndrome Show Various Phenotypes Caused by Novel Mutations,

Kirstin Sandrock, PhD, Karin Kurnik, MD, Stephan Ehl, MD, Christoph Bidlingmaier, Lea Nakamura, Nina Rombach, MD, Sophie Schäfer, MD, Barbara Zieger, MD

Blood (2011) 118 (21): 3286.

https://doi.org/10.1182/blood.V118.21.3286.3286

Published: 2011

Journal Articles

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

Kirstin Sandrock, Lea Nakamura, Thomas Vraetz, Karin Beutel, Stephan Ehl, Barbara Zieger

Blood (2010) 116 (26): 6148–6150.

https://doi.org/10.1182/blood-2010-08-302943

Published: 2010

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

Platelet Septins: Interaction of the Human Septins SEPT5, SEPT7 and SEPT11.

Barbara Zieger, Ingrid Bartsch, PhD, Susanne Bläser, PhD, Busse Anja, Sabrina Roeseler, Heike Bauer, PhD, Mareike Lieber, Cornelia Brendle

Blood (2007) 110 (11): 3891.

https://doi.org/10.1182/blood.V110.11.3891.3891

Published: 2007

Journal Articles

Deletion of Two Contiguous Genes, Platelet GPIbβ (Glycoprotein Ibβ) and Septin SEPT5, in a Boy with Bernard-Soulier Syndrome and Developmental Delay: A Possible New Contiguous Gene Syndrome.

Ingrid Bartsch, PhD, Ina Hainmann, MD, Susanne Bläser, PhD, Anna Pavlova, MD, Johannes Oldenburg, MD, Anja Busse, Francois Lanza, PhD, Paquita Nurden, MD, PhD, Andrea Superti-Furga, MD, Barbara Zieger, MD

Blood (2006) 108 (11): 1097.

https://doi.org/10.1182/blood.V108.11.1097.1097

Published: 2006

Journal Articles

European Collaborative Paediatric Database on Cerebral Venous Thrombosis: Risk Factors for Recurrent Venous Thromboembolism.

Gili Kenet, MD, Fenella Kirkham, MD, Thomas Niederstadt, MD, Karin Kurnik, MD, Rosemarie Schobess, MD, Ralf Knofler, MD, Barbara Zieger, MD, Ulrike Nowak-Gottl, MD

Blood (2006) 108 (11): 276.

https://doi.org/10.1182/blood.V108.11.276.276

Published: 2006

Journal Articles

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

Anselm Enders, Barbara Zieger, Klaus Schwarz, Ayami Yoshimi, Carsten Speckmann, Eva-Maria Knoepfle, Udo Kontny, Christoph Müller, Alan Nurden, Jan Rohr, Matthias Henschen, Ulrich Pannicke, Charlotte Niemeyer, Paquita Nurden, Stephan Ehl

Blood (2006) 108 (1): 81–87.

https://doi.org/10.1182/blood-2005-11-4413

Published: 2006

NARROW

Treatment and Follow-up Data for Young Patients with a Gne Defect and Congenital Thrombocytopenia

N ovel Splice-Site Mutation in RASGRP2 Leading to Caldag-GEFI Deficiency

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Detection and Differential Diagnosis of Prekallikrein Deficiency: Genetic Study of New Families and Systematic Review of the Literature

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Improved Values for Acquired Von Willebrand Syndrome and Better Clinical Outcome in Patients with Heartmate III Compared to Heartmate II

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Identification of a new dysfunctional platelet P2Y 12 receptor variant associated with bleeding diathesis

First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3)

Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome

Patients with Hermansky-Pudlak Syndrome Show Various Phenotypes Caused by Novel Mutations,

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

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

Platelet Septins: Interaction of the Human Septins SEPT5, SEPT7 and SEPT11.

Deletion of Two Contiguous Genes, Platelet GPIbβ (Glycoprotein Ibβ) and Septin SEPT5, in a Boy with Bernard-Soulier Syndrome and Developmental Delay: A Possible New Contiguous Gene Syndrome.

European Collaborative Paediatric Database on Cerebral Venous Thrombosis: Risk Factors for Recurrent Venous Thromboembolism.

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

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American Society of Hematology

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