Detalhe da pesquisa
1.
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Am J Hum Genet
; 102(5): 956-972, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727692
2.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Am J Hum Genet
; 103(6): 984-994, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471717
3.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
J Med Genet
; 57(5): 322-330, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879361
4.
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Thorax
; 74(2): 203-205, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166424
5.
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Thorax
; 73(2): 157-166, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28790179
6.
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Eur Respir J
; 51(2)2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29467202
7.
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Am J Respir Crit Care Med
; 196(1): 94-101, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28199173
8.
Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.
Ultrastruct Pathol
; 41(6): 390-398, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28922056
9.
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.
Hum Mol Genet
; 23(13): 3362-74, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518672
10.
Generation of a three-dimensional ultrastructural model of human respiratory cilia.
Am J Respir Cell Mol Biol
; 47(6): 800-6, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22936404
11.
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Am J Hum Genet
; 84(2): 197-209, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200523
12.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nat Commun
; 8: 14279, 2017 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28176794
13.
Bardet Biedl syndrome: motile ciliary phenotype.
Chest
; 147(3): 764-770, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25317630
14.
Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.
Cytoskeleton (Hoboken)
; 71(5): 294-301, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24616277