MYH9 gene mutations associated with bleeding

Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan

(2016) A. Yoshimi et al.   ANNALS OF ONCOLOGY

A case of MYH9 disorders caused by a novel mutation (p.K74E)

(2015) Takeshi Kanematsu et al.   ANNALS OF HEMATOLOGY

R705H mutation ofMYH9is associated withMYH9-related disease and not only with non-syndromic deafness DFNA17

(2014) E. Verver et al.   CLINICAL GENETICS

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

(2014) Béatrice Saposnik et al.   Molecular Genetics & Genomic Medicine

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

(2013) Alessandro Pecci et al.   HUMAN MUTATION

Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule outMYH9disorders

(2013) K. Kitamura et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

First Successful Use of Eltrombopag Before Surgery in a Child With MYH9-Related Thrombocytopenia

(2013) R. Favier et al.   PEDIATRICS

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

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

(2012) Alessandro Pecci et al.   PLoS One

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

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

(2010) A. Pecci et al.   BLOOD

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

Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene

(2009) Daniela De Rocco et al.   European Journal of Medical Genetics

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

(2007) Alessandro Pecci et al.   HUMAN MUTATION