Detalhe da pesquisa
1.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
PLoS Genet
; 19(6): e1010796, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315079
2.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
3.
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
4.
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
5.
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
6.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
J Med Genet
; 56(5): 332-339, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487245
7.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520571
8.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865301
9.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv
; 2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993625
10.
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
Eur J Med Genet
; 60(12): 658-666, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28870638