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.
Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.
Eur J Pediatr
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38679661
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.
Fractional exhaled Nitric Oxide (FeNO) level as a predictor of COVID-19 disease severity.
Nitric Oxide
; 124: 68-73, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35597408
5.
Weaning Strategy of Diuretics in Outpatient Preterm Infants with Bronchopulmonary Dysplasia: A National Survey.
Am J Perinatol
; 39(4): 394-400, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32892324
6.
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Am J Hum Genet
; 102(5): 973-984, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727693
7.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS Genet
; 14(8): e1007602, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30148830
8.
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
Am J Respir Cell Mol Biol
; 62(3): 382-396, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31545650
9.
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
10.
Evaluation of clinically and physiologically atypical asthma: If it doesn't wheeze it may still be asthma.
J Asthma
; 56(1): 21-26, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29393720
11.
Futile plea for help: a pediatric pulmonologist's heartbreaking journey.
Isr Med Assoc J
; 26(1): 6-7, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420634
12.
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
13.
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
Hum Mutat
; 38(8): 964-969, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28543983
14.
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
15.
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
16.
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
Hum Mutat
; 37(4): 396-405, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26777464
17.
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Am J Respir Cell Mol Biol
; 55(2): 213-24, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26909801
18.
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
19.
Pulse oximetry is an essential tool that saves lives: a call for standardisation.
Eur Respir J
; 57(6)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34088755
20.
Reply to Shoemark et al. and to Shapiro et al.
Am J Respir Crit Care Med
; 201(1): 123-125, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433954