Detalhe da pesquisa
1.
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Am J Respir Crit Care Med
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626355
2.
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Am J Med Genet C Semin Med Genet
; 190(1): 89-101, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35343062
3.
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
4.
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
5.
Current and Future Treatments in Primary Ciliary Dyskinesia.
Int J Mol Sci
; 22(18)2021 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34575997
6.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Am J Hum Genet
; 100(1): 160-168, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041644
7.
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
em Inglês
| MEDLINE | ID: mdl-31533829
8.
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
Hum Mutat
; 39(5): 653-665, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29363216
9.
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
10.
Clinical and inflammatory phenotyping by breathomics in chronic airway diseases irrespective of the diagnostic label.
Eur Respir J
; 51(1)2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29326334
11.
A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia.
Eur Respir J
; 49(2)2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232410
12.
Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort.
Eur Respir J
; 50(6)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269581
13.
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
Am J Hum Genet
; 92(1): 88-98, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261303
14.
An international registry for primary ciliary dyskinesia.
Eur Respir J
; 47(3): 849-59, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26659107
15.
Glucocorticoid-Induced Proliferation in Untreated Pediatric Acute Myeloid Leukemic Blasts.
Pediatr Blood Cancer
; 63(8): 1457-60, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27093190
16.
Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.
BMC Pulm Med
; 16(1): 104, 2016 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450411
17.
Altered exhaled biomarker profiles in children during and after rhinovirus-induced wheeze.
Eur Respir J
; 45(2): 440-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25323245
18.
Congenital lobar emphysema causing discrepancy between size and symptoms of ventricular septal defect.
Eur J Pediatr
; 173(12): 1671-3, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24384794
19.
Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study.
ERJ Open Res
; 10(2)2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444659
20.
A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia.
ERJ Open Res
; 10(1)2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196895