Detalhe da pesquisa
1.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 61(6): 595-604, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408845
2.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Am J Hum Genet
; 106(2): 153-169, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31978331
3.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Am J Hum Genet
; 105(1): 198-212, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178125
4.
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
J Hum Genet
; 67(7): 381-386, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35046476
5.
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Hum Mutat
; 41(1): 115-121, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31469207
6.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Am J Hum Genet
; 99(2): 489-500, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486783
7.
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Hum Mol Genet
; 25(8): 1457-67, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26792177
8.
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Am J Hum Genet
; 97(1): 153-62, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073779
9.
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Hum Mutat
; 37(8): 776-85, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120127