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

A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts

(2011) Jihong Hao et al.   ANNALS OF HEMATOLOGY

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

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

Patients with Epstein–Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease

(2010) Takashi Sekine et al.   KIDNEY INTERNATIONAL

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

MYH9-Related Platelet Disorders

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

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders

(2008) S. Kunishima et al.   BLOOD

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

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

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome)

(2008) A. Pecci et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

(2007) Alessandro Pecci et al.   HUMAN MUTATION