Detalhe da pesquisa
1.
Axonemal structures reveal mechanoregulatory and disease mechanisms.
Nature
; 618(7965): 625-633, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37258679
2.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
PLoS Genet
; 19(6): e1010796, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315079
3.
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
4.
Motile cilia and airway disease.
Semin Cell Dev Biol
; 110: 19-33, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279404
5.
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Am J Hum Genet
; 105(5): 1030-1039, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630787
6.
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Eur Respir J
; 60(5)2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728977
7.
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Am J Hum Genet
; 102(5): 956-972, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727692
8.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Am J Hum Genet
; 103(6): 984-994, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471717
9.
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Eur Respir J
; 58(4)2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795320
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.
Sperm defects in primary ciliary dyskinesia and related causes of male infertility.
Cell Mol Life Sci
; 77(11): 2029-2048, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31781811
12.
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
13.
PCD Detect: enhancing ciliary features through image averaging and classification.
Am J Physiol Lung Cell Mol Physiol
; 319(6): L1048-L1060, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32996775
14.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228333
15.
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Clin Genet
; 97(3): 509-515, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31650533
16.
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
17.
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
18.
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Eur Respir J
; 51(2)2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29467202
19.
Motile and non-motile cilia in human pathology: from function to phenotypes.
J Pathol
; 241(2): 294-309, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859258
20.
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Am J Respir Crit Care Med
; 196(1): 94-101, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28199173