Detalhe da pesquisa
1.
Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Eur Respir J
; 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38871375
2.
Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard.
Eur Respir J
; 61(4)2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822632
3.
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Am J Hum Genet
; 105(5): 1030-1039, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630787
4.
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Eur Respir J
; 60(5)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728977
5.
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
6.
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
7.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Eur Respir J
; 58(2)2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33479112
8.
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
9.
Zebrafish Motile Cilia as a Model for Primary Ciliary Dyskinesia.
Int J Mol Sci
; 22(16)2021 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445067
10.
PCD Detect: enhancing ciliary features through image averaging and classification.
Am J Physiol Lung Cell Mol Physiol
; 319(6): L1048-L1060, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32996775
11.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228333
12.
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
13.
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
14.
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
15.
Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.
Eur Respir J
; 52(2)2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049738
16.
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
17.
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.
Eur Respir J
; 49(1)2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27836958
18.
The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.
Eur Respir J
; 49(1)2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052956
19.
Scoliosis convexity and organ anatomy are related.
Eur Spine J
; 26(6): 1595-1599, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180983
20.
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