Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia.
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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsExome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaSplice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaMutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaLoss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesiaFounder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin familiesFused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesisDiagnosis of primary ciliary dyskinesiaDiagnosis and management of primary ciliary dyskinesiaThe challenges of diagnosing primary ciliary dyskinesiaMethod for quantitative study of airway functional microanatomy using micro-optical coherence tomographyCulture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aidDiagnosing primary ciliary dyskinesia: an international patient perspectivePICADAR: a diagnostic predictive tool for primary ciliary dyskinesia.Accuracy of diagnostic testing in primary ciliary dyskinesiaMucociliary clearance defects in a murine in vitro model of pneumococcal airway infectionPrimary ciliary dyskinesia.LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defectsMouse models of ciliopathies: the state of the art.Airway Epithelial Cell Cilia and Obstructive Lung DiseaseSCO-ping out the mechanisms underlying the etiology of hydrocephalusLoss of ASP but not ROPN1 reduces mammalian ciliary motilityMutations in Hydin impair ciliary motility in miceMutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images.Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot studyHuman airway ciliary dynamicsFounder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesiaPrimary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.Nasal ciliary beat frequency and beat pattern in retinal ciliopathies.Non-cystic fibrosis bronchiectasis: review and recent advances.Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia.Recent advances in primary ciliary dyskinesia genetics.Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.Recovery of the ciliated epithelium following acute bronchiolitis in infancy.
P2860
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P2860
Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia.
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@ast
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@en
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@nl
type
label
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@ast
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@en
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@nl
prefLabel
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@ast
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@en
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@nl
P2093
P1476
Ciliary beat pattern is associ ...... in primary ciliary dyskinesia.
@en
P2093
Andrew Rutman
Christopher O'Callaghan
Mark A Chilvers
P304
P356
10.1016/S0091-6749(03)01799-8
P407
P577
2003-09-01T00:00:00Z