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Journal Articles

The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene

Zhaohui Liao Arter, MD, Caitlin Yatogo, MS, CGC, Michael C. Chicka, PhD, Jeffrey L. Berenberg, MD

Blood (2019) 134 (Supplement_1): 2380.

https://doi.org/10.1182/blood-2019-122384

Published: 2019

Journal Articles

ANKRD26 Coding Variants Presenting with Giant Platelets and a Predisposition to Myeloid Neoplasia

Teodora Kuzmanovic, Bhumika J. Patel, MD, Jibran Durrani, Hassan Awada, MD, Cassandra M Kerr, MS, Bartlomiej P. Przychodzen, Samuel Li, BA, Seth J. Corey, MD, Sudipto Mukherjee, MD PhD MPH, Anjali S. Advani, MD, Aziz Nazha, MD, Aaron T. Gerds, MD MS, Hetty E. Carraway, MD MBA, Thomas Laframboise, PhD, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 4233.

https://doi.org/10.1182/blood-2019-130520

Published: 2019

Journal Articles

Novel Thyrointegrin αvβ3 Antagonist for the Treatment of Acute Myeloid Leukemia

Shaker A Mousa, PhD BPharm, MBA, MSc, Thangirala Institute Sudha, PhD, Kavitha Godugu, PhD, Mehdi Rajabi, PhD, Nazeer Tipu, MD, Paul J Davis, MD

Blood (2018) 132 (Supplement 1): 4068.

https://doi.org/10.1182/blood-2018-99-119455

Published: 2018

Journal Articles

A Rare Combination of Genetic Mutations in an Elderly Female: A Diagnostic Dilemma!

Prabhsimranjot Singh, MBBS, Sudhamshi Toom, MBBS, Makardhwaj S Shrivastava, MBBS, William B. Solomon, MD

Blood (2016) 128 (22): 5487.

https://doi.org/10.1182/blood.V128.22.5487.5487

Published: 2016

Journal Articles

Rare Variants in GP1BB underlie Autosomal Dominant Macrothrombocytopenia; Findings of Large Unique Bleeding and Platelet Disorders Cohort

Suthesh Sivapalaratnam, MD PhD, Willem Ouwehand, MD PhD, Bridge Consortium, ThromboGenomics Consortium

Blood (2016) 128 (22): 1359.

https://doi.org/10.1182/blood.V128.22.1359.1359

Published: 2016

Journal Articles

ITCH Deficiency Promotes an MPN Phenotype with Eosinophilia, Inflammation, Mislocalization and Overexpression of the Transcription Factor NF-E2

Jonas S. Jutzi, A Gruender, Konrad Aumann, Heike L. Pahl, PhD

Blood (2014) 124 (21): 821.

https://doi.org/10.1182/blood.V124.21.821.821

Published: 2014

Journal Articles

Inherited Giant Platelet Disorder, Kashmiri Thrombocytopenia, a Common Syndrome Found in Srinagar, India

Felipe R Lorenzo, PhD, Tsewang Tashi, MD, Parvaiz Koul, MD, Nicola J Camp, PhD, Perumal Thiagarajan, MD, Josef T. Prchal, MD

Blood (2014) 124 (21): 4211.

https://doi.org/10.1182/blood.V124.21.4211.4211

Published: 2014

Journal Articles

New Mutation in Chromosome 9 Associated with Familial Autosomal Recessive Macrothrombocytopenia

Shoshana Revel-Vilk, MD MSc, Ela Shai, PhD, Nivin Gashem, MSc, Esti Hyam, Galia Spectre, MD, Orly Elpeleg, MD, David Varon, MD

Blood (2014) 124 (21): 2776.

https://doi.org/10.1182/blood.V124.21.2776.2776

Published: 2014

Journal Articles

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

Vladimir T. Manchev, Morgane Hilpert, Eliane Berrou, Ziane Elaib, Achille Aouba, Siham Boukour, Sylvie Souquere, Gerard Pierron, Philippe Rameau, Robert Andrews, François Lanza, Regis Bobe, William Vainchenker, Jean-Philippe Rosa, Marijke Bryckaert, Najet Debili, Remi Favier, Hana Raslova

Blood (2014) 124 (16): 2554–2563.

https://doi.org/10.1182/blood-2014-01-551820

Published: 2014

Includes: Supplemental data

Journal Articles

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

Blood (2014) 124 (6): e4–e10.

https://doi.org/10.1182/blood-2014-03-564328

Published: 2014

Journal Articles

Circulating Megakaryocyte-Derived Cells Detected by Flow Cytometry As Marker of Aggressive Neoplasms of Megakaryocytic Lineage in Acute Megakaryoblastic Leukemia and Allied Malignancies Presenting As Primary Myelofibrosis

Serena Marotta, Giovanna Giagnuolo, Giulia Scalia, Maddalena Raia, Santina Basile, Giuseppe Ciancia, Guido Pettinato, Fabrizio Pane, Gennaro de Rosa, Luigi Del Vecchio, MD, Antonio M. Risitano, MD, PhD

Blood (2012) 120 (21): 1461.

https://doi.org/10.1182/blood.V120.21.1461.1461

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

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Yoshiyuki Kobayashi, MD, Hirotaka Matsui, MD, Akinori Kanai, PhD, Miyuki Tsumura, MSc, Satoshi Okada, MD, PhD, Mizuka Miki, MD, Kazuhiro Nakamura, MD, PhD, Shinji Kunishima, PhD, Toshiya Inaba, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2012) 120 (21): 1081.

https://doi.org/10.1182/blood.V120.21.1081.1081

Published: 2012

Journal Articles

Does “more” necessarily mean “better”?

Luciana Teofili, Luigi Maria Larocca

Blood (2012) 119 (14): 3194–3196.

https://doi.org/10.1182/blood-2012-02-406637

Published: 2012

Journal Articles

GPIbα regulates platelet size by controlling the subcellular localization of filamin

Taisuke Kanaji, Jerry Ware, Takashi Okamura, Peter J. Newman

Blood (2012) 119 (12): 2906–2913.

https://doi.org/10.1182/blood-2011-08-376566

Published: 2012

Includes: Supplemental data

Journal Articles

Defects in Filamin A (FLNa) in Women with X-Linked Filaminopathies: Abnormalities in Platelet Production and Platelet Function

Paquita Nurden, MD, PhD, Marijke Bryckaert, PhD, Eliane Berrou, PhD, Frédéric Adam, PhD, Jean-Marie Daniel Lamazière, PhD, Anne-Cécile Pons, PhD, Cyril Goizet, MD, PhD, William Vainchenker, MD, PhD, Alan T. Nurden, PhD, Najet Debili, PhD

Blood (2011) 118 (21): 1152.

https://doi.org/10.1182/blood.V118.21.1152.1152

Published: 2011

Journal Articles

NEW FINDINGS From the FRENCH COHORT of MYH9-RELATED DISORDERS: PHENOTYPE PECULIARITIES and GENOTYPE NOVELTIES on Behalf of the National French Reference Center on Inherited Platelet Disorders (CRPP)

Béatrice Saposnik, PhD, Sylvie Binard, Alan T. Nurden, PhD, Paquita Nurden, MD, PhD, Nicole Schlegel, MD, PhD

Blood (2011) 118 (21): 1155.

https://doi.org/10.1182/blood.V118.21.1155.1155

Published: 2011

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

Novel Mutation in the Glycoprotein Ibβ in a Patient with Bernard-Soulier Syndrome: Possibility of Distant Parental Consanguinity

Rami Mahfouz, MD, MPH, Carsten Bergmann, MD, Zaher Otrock, MD, Hanno Bolz, MD, Samar A. Muwakkit, MD

Blood (2011) 118 (21): 4689.

https://doi.org/10.1182/blood.V118.21.4689.4689

Published: 2011

Journal Articles

Characterization of Single Platelet Mass, Volume, and Density in Response to Agonist Stimulation

Kristina M. Haley, DO, Cassandra P. Loren, Kevin G. Phillips, PhD, Owen J.T. McCarty, PhD

Blood (2011) 118 (21): 5261.

https://doi.org/10.1182/blood.V118.21.5261.5261

Published: 2011

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The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene

ANKRD26 Coding Variants Presenting with Giant Platelets and a Predisposition to Myeloid Neoplasia

Novel Thyrointegrin αvβ3 Antagonist for the Treatment of Acute Myeloid Leukemia

A Rare Combination of Genetic Mutations in an Elderly Female: A Diagnostic Dilemma!

Rare Variants in GP1BB underlie Autosomal Dominant Macrothrombocytopenia; Findings of Large Unique Bleeding and Platelet Disorders Cohort

ITCH Deficiency Promotes an MPN Phenotype with Eosinophilia, Inflammation, Mislocalization and Overexpression of the Transcription Factor NF-E2

Inherited Giant Platelet Disorder, Kashmiri Thrombocytopenia, a Common Syndrome Found in Srinagar, India

New Mutation in Chromosome 9 Associated with Familial Autosomal Recessive Macrothrombocytopenia

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

Circulating Megakaryocyte-Derived Cells Detected by Flow Cytometry As Marker of Aggressive Neoplasms of Megakaryocytic Lineage in Acute Megakaryoblastic Leukemia and Allied Malignancies Presenting As Primary Myelofibrosis

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

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Does “more” necessarily mean “better”?

GPIbα regulates platelet size by controlling the subcellular localization of filamin

Defects in Filamin A (FLNa) in Women with X-Linked Filaminopathies: Abnormalities in Platelet Production and Platelet Function

NEW FINDINGS From the FRENCH COHORT of MYH9-RELATED DISORDERS: PHENOTYPE PECULIARITIES and GENOTYPE NOVELTIES on Behalf of the National French Reference Center on Inherited Platelet Disorders (CRPP)

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

Novel Mutation in the Glycoprotein Ibβ in a Patient with Bernard-Soulier Syndrome: Possibility of Distant Parental Consanguinity

Characterization of Single Platelet Mass, Volume, and Density in Response to Agonist Stimulation

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