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.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Am J Hum Genet
; 108(7): 1318-1329, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077761
3.
Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Genet Med
; 25(5): 100798, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727596
4.
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
5.
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
6.
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
Mol Hum Reprod
; 27(3)2021 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33561200
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.
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
10.
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
Am J Hum Genet
; 99(2): 460-9, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486780
11.
Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study.
Respiration
; 97(1): 60-69, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30408808
12.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Am J Hum Genet
; 97(4): 546-54, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387594
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.
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
Am J Respir Cell Mol Biol
; 67(3): 409-413, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36047773
15.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Am J Hum Genet
; 95(3): 257-74, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192045
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.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Am J Hum Genet
; 93(2): 357-67, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849778
19.
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
20.
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