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.
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
4.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
PLoS Genet;
17(2): e1009306, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33635866
5.
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
6.
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
7.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol;
148(2): 381-393, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33872655
8.
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Am J Hum Genet;
103(6): 995-1008, 2018 12 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30471718
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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