Detalhe da pesquisa
1.
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B.
Am J Respir Crit Care Med
; 205(7): 761-768, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35023825
2.
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Am J Respir Crit Care Med
; 199(2): 190-198, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30067075
3.
Pediatric asthma: An unmet need for more effective, focused treatments.
Pediatr Allergy Immunol
; 30(1): 7-16, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30312503
4.
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Am J Respir Crit Care Med
; 197(12): e24-e39, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905515
5.
Understanding parent perceptions of healthy physical activity for their child with a chronic medical condition: A cross-sectional study.
Paediatr Child Health
; 24(3): e135-e141, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31110464
6.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
7.
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
8.
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Am J Hum Genet
; 92(1): 99-106, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261302
9.
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Am J Hum Genet
; 93(4): 711-20, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055112
10.
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Am J Hum Genet
; 93(4): 672-86, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094744
11.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Am J Hum Genet
; 93(2): 336-45, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891469
12.
Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis.
Eur Respir J
; 48(4): 1081-1095, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492829
13.
Treatment recommendations in Primary Ciliary Dyskinesia.
Paediatr Respir Rev
; 18: 39-45, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26586601
14.
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
Am J Respir Crit Care Med
; 191(3): 316-24, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25493340
15.
Quantitative High-Speed Video Profiling Discriminates between DNAH11 and HYDIN Variants of Primary Ciliary Dyskinesia.
Am J Respir Crit Care Med
; 199(11): 1436-1438, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116566
16.
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
Am J Respir Crit Care Med
; 189(6): 707-17, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24568568
17.
Trends in the age of diagnosis of childhood asthma.
J Allergy Clin Immunol
; 134(5): 1057-62.e5, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24985402
18.
Diagnosis and management of asthma in preschoolers: A Canadian Thoracic Society and Canadian Paediatric Society position paper.
Paediatr Child Health
; 20(7): 353-71, 2015 Oct.
Artigo
em Inglês, Francês
| MEDLINE | ID: mdl-26526095
19.
Mortality of Pediatric Surgical Lung Biopsies in Ontario, Canada, 2000-2019.
Ann Am Thorac Soc
; 21(5): 767-773, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38261360
20.
Association of factors with childhood asthma and allergic diseases using latent class analysis.
Sci Rep
; 14(1): 6874, 2024 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38519555