Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Am J Respir Cell Mol Biol
; 53(4): 563-73, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25789548
8.
A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice.
Dis Model Mech
; 13(10)2020 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32988999
9.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Nat Commun
; 11(1): 5520, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33139725
10.
Label-Free Multi Parameter Optical Interrogation of Endothelial Activation in Single Cells using a Lab on a Disc Platform.
Sci Rep
; 9(1): 4157, 2019 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858536
11.
Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice.
Dis Model Mech
; 14(1)2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115122