Detalhe da pesquisa
1.
De novo identification of mammalian ciliary motility proteins using cryo-EM.
Cell
; 184(23): 5791-5806.e19, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715025
2.
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Hum Mol Genet
; 32(21): 3090-3104, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37555648
3.
Ultrastructural cilia defects in multi-ciliated uterine glandular epithelial cells from women with reproductive failure.
Reproduction
; 167(1)2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37999981
4.
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
5.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273371
6.
Towards an artificial human lung: modelling organ-like complexity to aid mechanistic understanding.
Eur Respir J
; 60(6)2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777774
7.
Lung function from school age to adulthood in primary ciliary dyskinesia.
Eur Respir J
; 60(4)2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301251
8.
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Eur Respir J
; 60(5)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728977
9.
European Respiratory Society clinical practice guidelines for the diagnosis of asthma in children aged 5-16â years.
Eur Respir J
; 58(5)2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33863747
10.
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
11.
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
12.
Health related quality of life in adult primary Ciliary dyskinesia patients in Cyprus: development and validation of the Greek version of the QOL-PCD questionnaire.
Health Qual Life Outcomes
; 18(1): 105, 2020 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321519
13.
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
14.
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
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.
Development and preliminary validation of the food intolerance Quality of Life Questionnaire (FIQLQ): Adult Form.
Qual Life Res
; 27(4): 1109-1116, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29151148
17.
Comparing the eating out experiences of consumers seeking to avoid different food allergens.
BMC Public Health
; 18(1): 1263, 2018 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442121
18.
Cephalosporin-3'-Diazeniumdiolate NO Donor Prodrug PYRRO-C3D Enhances Azithromycin Susceptibility of Nontypeable Haemophilus influenzae Biofilms.
Antimicrob Agents Chemother
; 61(2)2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919896
19.
Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD).
Thorax
; 72(9): 832-839, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28246220
20.
Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to Haemophilus influenzae biofilm formation.
Eur Respir J
; 50(3)2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28890436