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Journal Articles

Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic

Zuzana Vrzalova, PhD, Katerina Stano Kozubik, PhD, Lenka Radova, PhD, Jakub Trizuljak, MD, Sarka Pospisilova, Prof PhD, Michael Doubek, MD PhD

Blood (2019) 134 (Supplement_1): 2343.

https://doi.org/10.1182/blood-2019-122696

Published: 2019

Journal Articles

Impact of Upfront Chemotherapy on Overall Survival in Isolated Myeloid Sarcoma

Konstantinos Lontos, MD, Jonathan G. Yabes, PhD, Michael Boyiadzis, MD

Blood (2019) 134 (Supplement_1): 2608.

https://doi.org/10.1182/blood-2019-123308

Published: 2019

Journal Articles

Providing Primary Care to Children Diagnosed with Myosin Heavy Chain 9-Related Platelet Disorder: A Case Report and Review of Literature

Ka Li, Rafat Ahmed, MBBS

Blood (2018) 132 (Supplement 1): 5828.

https://doi.org/10.1182/blood-2018-99-113967

Published: 2018

Journal Articles

Thrombin Generation in Two Families with Myh-9-Related Platelet Disorder

Eva Zetterberg, MDPhD, Margareta S Carlsson Alle, MDPhD, Juliane Najm, PhD, Andreas Greinacher

Blood (2014) 124 (21): 2783.

https://doi.org/10.1182/blood.V124.21.2783.2783

Published: 2014

Journal Articles

Assessment of MYH9- Related Syndromes among a Series of Patients with Constitutional Macrothrombocytopenia (MT).

Nicole Schlegel, Beatrice Saposnik, Sylvie Binard, Sandrine Elbaz, Odile Fenneteau, Valerie Bardet, Benedicte Gerard, Paquita Nurden, French Ref Center for Inherited Plat Disorders

Blood (2006) 108 (11): 700.

https://doi.org/10.1182/blood.V108.11.700.700

Published: 2006

Journal Articles

The E1841K Mutation in MYH-9 of a Patient with May-Hegglin Anomaly Inhibits the Disassembly of Non-Muscle Myosin IIA (MYH-9) Responsible for the Phenotype of the Disease.

Koji Miyazaki, MD, PhD, Satoshi Komatsu, PhD, Mariko Watanabe, Naoya Nakadate, MD, PhD, Mitsuo Ikebe, PhD, Masaaki Higashihara, MD, PhD

Blood (2004) 104 (11): 736.

https://doi.org/10.1182/blood.V104.11.736.736

Published: 2004

Journal Articles

Congenital Macrothrombocytopenia and Defective Localization of the Nonmuscle Myosin Heavy Chain IIA in Leukocytes and Megakaryocytes with a Normal MYH9 Gene.

Walter H. Kahr, MD, PhD, FRCPC, Ling Li, MD, MSc, Chanchai Traivaree, MD, Hilary Christensen, BA, MLTU, Tara Paton, PhD, Sheila E. Butchard, RN, Julie Curtin, MBBS, PhD, Victor S. Blanchette, FRCP

Blood (2004) 104 (11): 3032.

https://doi.org/10.1182/blood.V104.11.3032.3032

Published: 2004

Journal Articles

A Novel Frameshift Mutation in a Case of Familial May-Hegglin Anomaly.

Jacky A. Cutler, Mike J. Mitchell, Geoffrey F. Savidge

Blood (2004) 104 (11): 3033.

https://doi.org/10.1182/blood.V104.11.3033.3033

Published: 2004

Journal Articles

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Samuel Deutsch, Alexandra Rideau, Marie-Luce Bochaton-Piallat, Giuseppe Merla, Antoine Geinoz, Giulio Gabbiani, Torsten Schwede, Thomas Matthes, Stylianos E. Antonarakis, Photis Beris

Blood (2003) 102 (2): 529–534.

https://doi.org/10.1182/blood-2002-09-2783

Published: 2003

Journal Articles

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)

Shinji Kunishima, Tetsuhito Kojima, Tadashi Matsushita, Toshihiro Tanaka, Masahito Tsurusawa, Yoshio Furukawa, Yukitsugu Nakamura, Takashi Okamura, Norihiko Amemiya, Takayuki Nakayama, Tadashi Kamiya, Hidehiko Saito

Blood (2001) 97 (4): 1147–1149.

https://doi.org/10.1182/blood.V97.4.1147

Published: 2001

Journal Articles

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

Amos Toren, Galit Rozenfeld-Granot, Bianca Rocca, Charles J. Epstein, Ninette Amariglio, Ferdinando Laghi, Raffaele Landolfi, Frida Brok-Simoni, Lena E. Carlsson, Gideon Rechavi, Andreas Greinacher

Blood (2000) 96 (10): 3447–3451.

https://doi.org/10.1182/blood.V96.10.3447

Published: 2000

NARROW

Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic

Impact of Upfront Chemotherapy on Overall Survival in Isolated Myeloid Sarcoma

Providing Primary Care to Children Diagnosed with Myosin Heavy Chain 9-Related Platelet Disorder: A Case Report and Review of Literature

Thrombin Generation in Two Families with Myh-9-Related Platelet Disorder

Assessment of MYH9- Related Syndromes among a Series of Patients with Constitutional Macrothrombocytopenia (MT).

The E1841K Mutation in MYH-9 of a Patient with May-Hegglin Anomaly Inhibits the Disassembly of Non-Muscle Myosin IIA (MYH-9) Responsible for the Phenotype of the Disease.

Congenital Macrothrombocytopenia and Defective Localization of the Nonmuscle Myosin Heavy Chain IIA in Leukocytes and Megakaryocytes with a Normal MYH9 Gene.

A Novel Frameshift Mutation in a Case of Familial May-Hegglin Anomaly.

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

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American Society of Hematology

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ASH Publications

American Society of Hematology

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