MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. - Wikidata - wikimedia - TriplyDB

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

http://www.wikidata.org/entity/Q33411280

about

Crystal structure of the rigor-like human non-muscle myosin-2 motor domain The European Hematology Association Roadmap for European Hematology Research: a consensus document The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients Role for formin-like 1-dependent acto-myosin assembly in lipid droplet dynamics and lipid storage.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.Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia.Diagnosis and treatment of inherited thrombocytopenias.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Molecular basis of inherited thrombocytopenias.MYH9 nephropathy.Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.Genomics of platelet disorders.Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.Life without double-headed non-muscle myosin II motor proteins.The role of vertebrate nonmuscle Myosin II in development and human disease.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Conditional deletion of nonmuscle myosin II-A in mouse tongue epithelium results in squamous cell carcinoma Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids).Inherited thrombocytopenias in the era of personalized medicine.Innovation in the field of thrombocytopenias: achievements since the beginning of the century and promises for the future.A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia.Hearing loss and renal syndromes.Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.Mean platelet diameter measurements to classify inherited thrombocytopenias.Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders.A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature.The first two cases of MYH9 disorders in Thailand: an international collaborative study.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?MYH9 gene mutations associated with bleeding.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Phenotype description and response to thrombopoietin receptor agonist in -related disorder

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MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

http://www.wikidata.org/entity/Q33411280

description

2013 nî lūn-bûn

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2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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MYH9-related disease: a novel ...... notype-phenotype correlations.

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MYH9-related disease: a novel ...... notype-phenotype correlations.

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MYH9-related disease: a novel ...... notype-phenotype correlations.

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MYH9-related disease: a novel ...... notype-phenotype correlations.

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MYH9-related disease: a novel ...... notype-phenotype correlations.

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MYH9-related disease: a novel ...... enotype-phenotype correlations

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Ana C Glembotsky

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Barbara Zieger

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Bernhard Gerber

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Carlo Baronci

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Carlo L Balduini

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Carlo Zaninetti

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Cedric Hermans

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Christel Van Geet

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Christiane Güthner

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Eloise Beggiato

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P2860

Altered cytoskeleton organization in platelets from patients with MYH9-related disease

Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function

Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

A new equation to estimate glomerular filtration rate

X-ray structures of the apo and MgATP-bound states of Dictyostelium discoideum myosin motor domain

Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state

Non-muscle myosin II takes centre stage in cell adhesion and migration

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).

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10.1002/HUMU.22476

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2

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35

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Daniela De Rocco

Catherine Klersy

Alessandro Pecci

Fabrizio Vianello

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2013-12-12T00:00:00Z

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258254652

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19536073

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24186861

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6233870

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