Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

(2013) Patrizia Noris et al.   BRITISH JOURNAL OF HAEMATOLOGY

Inherited thrombocytopenias frequently diagnosed in adults

(2013) C. L. Balduini et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition

(2013) Y. Chen et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Clinical, Pathological, and Genetic Analysis of Ten Patients with MYH9-Related Disease

(2012) Xiong-hua Sun et al.   ACTA HAEMATOLOGICA

Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature

(2012) Mami Ishida et al.   CLINICAL NEPHROLOGY

G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on “A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton” by Vettore et al.

(2012) Shinji Kunishima et al.   European Journal of Medical Genetics

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

(2012) Daniela De Rocco et al.   European Journal of Medical Genetics

Inherited thrombocytopenias

(2012) C. L. Balduini et al.   Hamostaseologie

Mean platelet volume: comparison of three analysers towards standardization of platelet morphological phenotype

(2012) V. LATGER-CANNARD et al.   International Journal of Laboratory Hematology

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

(2012) A. C. GLEMBOTSKY et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A Trp33Arg Mutation at Exon 1 of theMYH9Gene in a Korean Patient with May-Hegglin Anomaly

(2012) Moon Ju Jang et al.   YONSEI MEDICAL JOURNAL

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

(2011) Carlo L. Balduini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

(2010) Daniela De Rocco et al.   THROMBOSIS AND HAEMOSTASIS

Germinal mosaicism inMYH9disorders: a family with two affected siblings of normal parents

(2009) Shinji Kunishima et al.   BRITISH JOURNAL OF HAEMATOLOGY

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia

(2009) P. NORIS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

MYH9-Related Platelet Disorders

(2009) Karina Althaus et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Identification and characterization of the first large deletion of theMYH9gene associated withMYH9disorders

(2008) Shinji Kunishima et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Identification of the firstin cismutations inMYH9disorder

(2008) Yuji Miyajima et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease

(2007) Alessandro Pecci et al.   HUMAN MUTATION