Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
about
Severe to profound deafness may be associated with MYH9-related disease: report of 4 patientsRenal manifestations of patients with MYH9-related disorders.Platelet disorders in children: A diagnostic approach.Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.Inherited platelet disorders: a clinical approach to diagnosis and management.Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.Genetics of familial forms of thrombocytopenia.MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlationsClinical, pathological, and genetic analysis of ten patients with MYH9-related disease.Inherited thrombocytopenias frequently diagnosed in adults.MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.Lessons in platelet production from inherited thrombocytopenias.MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations.Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.Cochlear implantation is safe and effective in patients with MYH9-related disease.A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopeniaDiagnosis and treatment of inherited thrombocytopenias.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders.MYH9-macrothrombocytopenia caused by a novel variant (E1421K) initially presenting as apparent neonatal alloimmune thrombocytopenia.Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.Early diagnosis improves the quality of life in MYH9 disorder.The first two cases of MYH9 disorders in Thailand: an international collaborative study.MYH9 gene mutations associated with bleeding.
P2860
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P2860
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Heavy chain myosin 9-related d ...... gnomonic sign of the disorder.
@ast
Heavy chain myosin 9-related d ...... gnomonic sign of the disorder.
@en
type
label
Heavy chain myosin 9-related d ...... gnomonic sign of the disorder.
@ast
Heavy chain myosin 9-related d ...... gnomonic sign of the disorder.
@en
prefLabel
Heavy chain myosin 9-related d ...... gnomonic sign of the disorder.
@ast
Heavy chain myosin 9-related d ...... gnomonic sign of the disorder.
@en
P2093
P50
P356
P1476
Heavy chain myosin 9-related d ...... ognomonic sign of the disorder
@en
P2093
Andrew Mumford
Carlo L Balduini
Fabrizio Fabris
Francesca Scognamiglio
Giuseppe Loffredo
Marco R De Groot
Marisa Giani
Núria Pujol-Moix
Paolo Freddi
Paula G Heller
P304
P356
10.1160/TH09-08-0593
P50
P577
2010-02-19T00:00:00Z