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Journal Articles

A Heterozygous Mutation of G-Protein-Coupled Receptor 25 in a Family with Inherited Thrombocytopenia and Thrombosis

Jun Yamanouchi, MD PhD, Yuichi Ikeda, MD, Takaaki Hato, MD PhD, Masaki Yasukawa, MD PhD, Katsuto Takenaka, MD PhD

Blood (2018) 132 (Supplement 1): 1151.

https://doi.org/10.1182/blood-2018-99-110275

Published: 2018

Journal Articles

Mutation in GNE is associated with severe congenital thrombocytopenia

Jane Futterer, Amanda Dalby, Gillian C. Lowe, Ben Johnson, Michael A. Simpson, Jayashree Motwani, Mike Williams, Steve P. Watson, Neil V. Morgan

Blood (2018) 132 (17): 1855–1858.

https://doi.org/10.1182/blood-2018-04-847798

Published: 2018

Includes: Supplemental data

Journal Articles

Efficacy and Thrombotic Adverse Events of Romiplostim Use in Patients with Thrombocytopenia Related to Underlying Malignancies

Valery J Li, MD, Yimei Miao, BS, Cy Wilkins, MD, Gerald A. Soff, MD

Blood (2017) 130 (Supplement 1): 2324.

https://doi.org/10.1182/blood.V130.Suppl_1.2324.2324

Published: 2017

Journal Articles

High Throughput Sequencing in 3449 Patients with Bleeding and Platelet Disorders: Novel Gene Discovery and Robust Diagnosis

Claire Lentaigne, BSc, MB, MRCP, Bridge Consortium, Thrombogenomics Consortium

Blood (2017) 130 (Supplement 1): 5.

https://doi.org/10.1182/blood.V130.Suppl_1.5.5

Published: 2017

Journal Articles

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

Inga Hofmann, MD, Andrew Crispin, BS, Dean Campagna, BS, Monica Calicchio, Klaus Schmitz-Abe, Esther A. Obeng, MD PhD, Kyriacos Markianos, Yotis A. Senis, Mark D. Fleming, MD DPhil

Blood (2017) 130 (Supplement 1): 1630.

https://doi.org/10.1182/blood.V130.Suppl_1.1630.1630

Published: 2017

Journal Articles

Comprehensive Functional Characterization of Germline ETV6 Variants Associated with Inherited Predisposition to Acute Lymphoblastic Leukemia in Children

Blood (2016) 128 (22): 1085.

https://doi.org/10.1182/blood.V128.22.1085.1085

Published: 2016

Journal Articles

Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study

Edward J Romasko, PhD, Sawona Biswas, MSc MS CGC, Batsal Devkota, PhD, Jayaraman Vijayakumar, Sowmyra Jairam, PhD, Christopher S Thom, MD PhD, Matthew C Dulik, PhD, Laura K Conlin, PhD, Nancy B. Spinner, PhD, Ian D Krantz, MD, Michele P. Lambert, MD MTR

Blood (2016) 128 (22): 3726.

https://doi.org/10.1182/blood.V128.22.3726.3726

Published: 2016

Journal Articles

Idelalisib Rapidly Improves Platelets Function in Patients with Chronic Lymphocytic Leukemia (CLL)

Gianluigi Reda, MD, Ramona Cassin, MD, Andrea Artoni, MD PhD, Anna Lecchi, BS, Bruno Fattizzo, MD, Silvia La Marca, BS, Paolo Bucciarelli, MD, Flora Peyvandi, MD PhD, Agostino Cortelezzi, MD

Blood (2016) 128 (22): 5566.

https://doi.org/10.1182/blood.V128.22.5566.5566

Published: 2016

Journal Articles

The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes

Wenbin An, MD, Ye Guo, Yumei Chen, Yao Zou, Xiaojuan Chen, Wenyu Yang, Lixian Chang, MD, Yang Wan, MD, Xiaofan Zhu, MD

Blood (2016) 128 (22): 3908.

https://doi.org/10.1182/blood.V128.22.3908.3908

Published: 2016

Journal Articles

Clinical Spectrum of Germline Mutations with Predisposition to Myeloid Neoplasms- 2016 World Health Organization Classification Update

Thanh Ho, MD, Juliana Perez Botero, MD, William J Hogan, MBChB, Saad S Kenderian, MD, Naseema Gangat, MBBS, Ayalew Tefferi, MD, Roshini S Abraham, PhD, Phuong L. Nguyen, MD, Jennifer L Oliveira, MD, Rong He, MD, Dong Chen, MD PhD, David Viswanatha, MD, Vilmarie Rodriguez, MD, Shakila Khan, MD, Mrinal M Patnaik, MBBS

Blood (2016) 128 (22): 300.

https://doi.org/10.1182/blood.V128.22.300.300

Published: 2016

Journal Articles

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis

Koji Eto, Shinji Kunishima

Blood (2016) 127 (10): 1234–1241.

https://doi.org/10.1182/blood-2015-07-607903

Published: 2016

Includes: Supplemental data

Journal Articles

Germline Genetic Variation in ETV6 and Predisposition to Childhood Acute Lymphoblastic Leukemia

Blood (2015) 126 (23): 695.

https://doi.org/10.1182/blood.V126.23.695.695

Published: 2015

Journal Articles

Concurrent Somatic Mutations in Exon 14 of Janus KINASE2 (JAK2) and Exon 10 of Myeloprolifeative Leukemia Virus Oncogene (MPL) in Myeloproliferative Neoplasms (MPN) and Myelodysplastic Syndromes (MDS)/MPN

Krishna Gundabolu, MD, Catalina C Amador, MD, Allison M Cushman-Vokoun, MD, PhD, Vijaya R. Bhatt, MD, Lori J. Maness, MD, Timothy C. Greiner, MD

Blood (2015) 126 (23): 5211.

https://doi.org/10.1182/blood.V126.23.5211.5211

Published: 2015

Journal Articles

Results of the Russian Registry of Primary Immune Thrombocytopenia in Pediatric Patients

Anastasia Shamardina, MD, Inna Markova, MD, Tatyana Sycheva, MD, Elena Volodicheva, MD, Alexander Rumyantsev, Prof, Boris V Afanasyev, Professor, Michael A Maschan, MD PhD, Alexey Maschan, Prof

Blood (2015) 126 (23): 4643.

https://doi.org/10.1182/blood.V126.23.4643.4643

Published: 2015

Journal Articles

A Novel Splice Site Mutation in the 5'UTR of GATA1 resulting in Abnormal Hematopoiesis

Jacob Zucker, MD, Constance Temm, Magdalena Czader, MD PhD, Grzegorz Nalepa, MDPhD

Blood (2015) 126 (23): 3620.

https://doi.org/10.1182/blood.V126.23.3620.3620

Published: 2015

Journal Articles

Stage Selective Requirement For The N-Terminus Of GATA1 During Erythropoiesis

Monika J Stankiewicz, PhD, Timothy M Chlon, John D Crispino, PhD

Blood (2013) 122 (21): 3670.

https://doi.org/10.1182/blood.V122.21.3670.3670

Published: 2013

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

Hereditary Thrombocytosis: The Thrombopoietin Receptor c-MPL Can Activate Its Downstream Pathway without Full Glycosylation and Membrane Expression

Clemens Stockklausner, M.D., Nicole Echner, Anne-Christine Klotter, Isabelle Nadine Kuhlee, Andreas E Kulozik, MD, PhD

Blood (2011) 118 (21): 2374.

https://doi.org/10.1182/blood.V118.21.2374.2374

Published: 2011

Journal Articles

The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation

Shannon C. Jackson, Gary D. Sinclair, Stephanie Cloutier, Zhaoxia Duan, Margaret L. Rand, Man-Chiu Poon

Blood (2009) 113 (14): 3348–3351.

https://doi.org/10.1182/blood-2008-06-165233

Published: 2009

Journal Articles

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications

Kathleen Freson, Karen Peeters, Rita De Vos, Christine Wittevrongel, Chantal Thys, Marc F. Hoylaerts, Jos Vermylen, Chris Van Geet

Blood (2008) 111 (4): 1885–1893.

https://doi.org/10.1182/blood-2007-06-098558

Published: 2008

Includes: Supplemental data

NARROW

A Heterozygous Mutation of G-Protein-Coupled Receptor 25 in a Family with Inherited Thrombocytopenia and Thrombosis

Mutation in GNE is associated with severe congenital thrombocytopenia

Efficacy and Thrombotic Adverse Events of Romiplostim Use in Patients with Thrombocytopenia Related to Underlying Malignancies

High Throughput Sequencing in 3449 Patients with Bleeding and Platelet Disorders: Novel Gene Discovery and Robust Diagnosis

Congenital Thrombocytopenia and Myelofibrosis Due to Germline Mutations in G6b-B— a Megakaryocyte-Specific Immunoreceptor Tyrosine-Based Inhibitory Motif (ITIM) Receptor

Comprehensive Functional Characterization of Germline ETV6 Variants Associated with Inherited Predisposition to Acute Lymphoblastic Leukemia in Children

Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study

Idelalisib Rapidly Improves Platelets Function in Patients with Chronic Lymphocytic Leukemia (CLL)

The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes

Clinical Spectrum of Germline Mutations with Predisposition to Myeloid Neoplasms- 2016 World Health Organization Classification Update

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis

Germline Genetic Variation in ETV6 and Predisposition to Childhood Acute Lymphoblastic Leukemia

Concurrent Somatic Mutations in Exon 14 of Janus KINASE2 (JAK2) and Exon 10 of Myeloprolifeative Leukemia Virus Oncogene (MPL) in Myeloproliferative Neoplasms (MPN) and Myelodysplastic Syndromes (MDS)/MPN

Results of the Russian Registry of Primary Immune Thrombocytopenia in Pediatric Patients

A Novel Splice Site Mutation in the 5'UTR of GATA1 resulting in Abnormal Hematopoiesis

Stage Selective Requirement For The N-Terminus Of GATA1 During Erythropoiesis

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

Hereditary Thrombocytosis: The Thrombopoietin Receptor c-MPL Can Activate Its Downstream Pathway without Full Glycosylation and Membrane Expression

The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications

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American Society of Hematology

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ASH Publications

American Society of Hematology

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