Detalhe da pesquisa
1.
Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.
Am J Hum Genet
; 96(2): 318-28, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25640674
2.
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
3.
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
4.
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
Am J Respir Crit Care Med
; 189(6): 707-17, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24568568
5.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Hum Mutat
; 34(3): 462-72, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255504
6.
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Mol Genet Genomic Med
; 7(9): e911, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373179
7.
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.
Pediatr Pulmonol
; 53(11): 1565-1573, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238669
8.
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
Nat Genet
; 45(9): 995-1003, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23872636