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MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
(Taylor & Francis, 2009-10)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and ...
The Utility Of International Society On Thrombosis And Haemostasis-bleeding Assessment Tool And Other Bleeding Questionnaires In Assessing The Bleeding Phenotype In Two Platelet Function Defects
(Lippincott Williams & WilkinsPhiladelphia, 2016)
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis
(Nature Publishing GroupNew YorkEUA, 2006)
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency
(Ferrata Storti Foundation, 2013-06)
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. The genetic defect responsible for gray platelet syndrome was ...
Gray platelet syndrome: Novel mutations of the NBEAL2 gene
(Wiley-liss, Div John Wiley & Sons Inc, 2017-02)
Gray platelet syndrome (GPS) is a rare inherited macrothrombocytopenia characterized by reduction of a-granules in platelets and megakaryocytes associated with mild-tomoderate bleeding and myelofibrosis [1]. As reported ...
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
(Elsevier Masson, 2013-01)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital ...
Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients
(Nature Publishing Group, 2016-03)
The Gray Platelet Syndrome (GPS) is a rare inherited bleeding disorder characterized by deficiency ofplatelet α-granules, macrothrombocytopenia and marrow fibrosis. The autosomal recessive form ofGPS is linked to loss of ...
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease
(Taylor & Francis, 2006-12)
MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin ...
A deep dive into the pathology of gray platelet syndrome: new insights on immune dysregulation
(Dove Press, 2021-08)
The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 muta-tions. Typical clinical features include macrothrombocytopenia, ...
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
(Wiley-liss, Div John Wiley & Sons Inc, 2008-03)
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, ...