Detalhe da pesquisa
1.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 61(6): 595-604, 2024 May 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38408845
2.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Am J Hum Genet
; 106(2): 153-169, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31978331
3.
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.
J Clin Immunol
; 43(8): 2156-2164, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37814086
4.
Lung function from school age to adulthood in primary ciliary dyskinesia.
Eur Respir J
; 60(4)2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35301251
5.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Eur Respir J
; 58(2)2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33479112
6.
Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.
Respir Res
; 20(1): 212, 2019 Sep 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31533829
7.
Omicron Wave Modification of the Coronavirus Disease 2019 Paradigm in Children With Cystic Fibrosis.
J Infect Dis
; 227(6): 831-832, 2023 03 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35906931
8.
Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.
Eur Respir J
; 52(2)2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30049738
9.
Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use.
Eur J Pediatr
; 176(12): 1559-1571, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29046943
10.
An innovative pedagogic course combining video and simulation to teach medical students about pediatric cardiopulmonary arrest: a prospective controlled study.
Eur J Pediatr
; 175(6): 767-74, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-26847430
11.
Time trends in diagnostic testing for primary ciliary dyskinesia in Europe.
Eur Respir J
; 54(4)2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31273043
12.
COVID-19 and pediatric pulmonology: Feedback from an expert center after the first year of the pandemic.
Pediatr Pulmonol
; 58(2): 392-397, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36353967
13.
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.
Ann Am Thorac Soc
; 19(10): 1704-1712, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35622418
14.
SARS-CoV-2 B.1.1.529 (Omicron) Variant Causes an Unprecedented Surge in Children Hospitalizations and Distinct Clinical Presentation Compared to the SARS-CoV-2 B.1.617.2 (Delta) Variant.
Front Pediatr
; 10: 932170, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35832582
15.
Impact of the COVID-19 pandemic and associated lockdown measures on the management, health, and behavior of the cystic fibrosis population in France during 2020 (MUCONFIN).
Front Public Health
; 10: 978627, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36452951
16.
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.
ERJ Open Res
; 8(3)2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35983540
17.
Interstitial lung disease: physiopathology in the context of lung growth.
Paediatr Respir Rev
; 12(4): 216-22, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22018034
18.
Breath-holding and tidal breathing nasal NO to screen children for Primary Ciliary Dyskinesia.
Pediatr Pulmonol
; 56(7): 2242-2249, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33860637
19.
Achromobacter xylosoxidans airway infection is associated with lung disease severity in children with cystic fibrosis.
ERJ Open Res
; 7(2)2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34084788
20.
Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review.
ERJ Open Res
; 7(4)2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34853782