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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
Journal: Blood
Blood (2018) 132 (Supplement 1): 5828.
https://doi.org/10.1182/blood-2018-99-113967
Published: 2018
Journal Articles

Gene Heterogenicity Diagnosis on Children with Complicated Immunological and Hematological Abnormalities

Chunfu Li, MD, Haixia Guo, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 4946.
https://doi.org/10.1182/blood.V130.Suppl_1.4946.4946
Published: 2017
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
Journal: Blood
Blood (2006) 108 (11): 700.
https://doi.org/10.1182/blood.V108.11.700.700
Published: 2006
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
Journal: Blood
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
Journal: Blood
Blood (2004) 104 (11): 3033.
https://doi.org/10.1182/blood.V104.11.3033.3033
Published: 2004
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
Journal: Blood
Blood (2004) 104 (11): 736.
https://doi.org/10.1182/blood.V104.11.736.736
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
Journal: Blood
Blood (2003) 102 (2): 529–534.
https://doi.org/10.1182/blood-2002-09-2783
Published: 2003
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
Journal: Blood
Blood (2000) 96 (10): 3447–3451.
https://doi.org/10.1182/blood.V96.10.3447
Published: 2000