Buscar
Mostrando ítems 1-10 de 21
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 ...
Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
(Schattauer Gmbh-verlag Medizin Naturwissenschaften, 2010-03)
MYH9 -related disease ( MYH9 -RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. ...
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 ...
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, ...
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 ...
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease
(Lippincott Williams, 2016-02)
Objectives: MYH9-related disease (MYH9-RD) is an autosomal-dominant disorder deriving from mutations in MYH9, the gene for the nonmuscle myosin heavy chain (NMMHC)-IIA. MYH9-RD has a complex phenotype including congenital ...
O sistema GO em Trypanosoma cruzi: caracterização dos genes TcOGG1 e TcMYH
(Universidade Federal de Minas GeraisUFMG, 2013-12-16)
Trypanosoma cruzi is a protozoan parasite, causative of Chagas disease. Like most living organisms, it is susceptible to oxidative stress, and needs to adapt to distinct environments. Hence, DNA repair is essential for its ...
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations
(Wiley, 2014-02)
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical ...
Aspectos clínicos e epidemiológicos da miosite imunomediada em equinos quarto de milha no Brasil
(Universidade Federal de UberlândiaBrasilMedicina Veterinária, 2022)