A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
about
The contribution of mouse models to the understanding of constitutional thrombocytopeniaInherited platelet disorders: toward DNA-based diagnosisThe Human Phenotype Ontology in 2017Genomics of platelet disorders.Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.A Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis.[Diagnostics in human genetics : Integration of phenotypic and genomic data].Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare DiseasesThe actin binding proteins cortactin and HS1 are dispensable for platelet actin nodule and megakaryocyte podosome formation.Diagnosis of inherited bleeding disorders in the genomic era.Platelet disorders: the next generation is in.Critical role of the HDAC6-cortactin axis in human megakaryocyte maturation leading to a proplatelet-formation defect.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.ACTN1 variants associated with thrombocytopenia.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus.Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossVariants in exons 5 and 6 of ACTB cause syndromic thrombocytopeniaGenomics and transcriptomics of megakaryocytes and platelets: Implications for health and diseaseMicrotubule polyglutamylation and acetylation drive microtubule dynamics critical for platelet formationPhenotype description and response to thrombopoietin receptor agonist in -related disorder
P2860
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P2860
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
description
2016 nî lūn-bûn
@nan
2016 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
A gain-of-function variant in ...... mbocytopenia and hearing loss.
@ast
A gain-of-function variant in ...... mbocytopenia and hearing loss.
@en
type
label
A gain-of-function variant in ...... mbocytopenia and hearing loss.
@ast
A gain-of-function variant in ...... mbocytopenia and hearing loss.
@en
prefLabel
A gain-of-function variant in ...... mbocytopenia and hearing loss.
@ast
A gain-of-function variant in ...... mbocytopenia and hearing loss.
@en
P2093
P50
P921
P1433
P1476
A gain-of-function variant in ...... ombocytopenia and hearing loss
@en
P2093
Alan T Nurden
Andrew D Mumford
Anne M Kelly
BRIDGE-BPD Consortium
Bernhard Nieswandt
Carolyn M Millar
Chantal Thys
Chris van Geet
Christopher J Penkett
Claire Lentaigne
P304
P356
10.1182/BLOOD-2015-10-675629
P407
P50
P577
2016-02-24T00:00:00Z