Detalhe da pesquisa
1.
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Genes Dev
; 35(21-22): 1445-1460, 2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34711653
2.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Annu Rev Genomics Hum Genet
; 23: 301-329, 2022 08 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35655331
3.
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
J Cell Physiol
; 239(4): e31189, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38219074
4.
Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome.
Hum Mol Genet
; 31(19): 3245-3265, 2022 09 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35470378
5.
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Ann Hum Genet
; 88(1): 86-100, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37921557
6.
Environmental oxygen regulates astrocyte proliferation to guide angiogenesis during retinal development.
Development
; 148(9)2021 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33960384
7.
Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
Exp Brain Res
; 242(3): 619-637, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38231387
8.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36788019
9.
TOPORS as a novel causal gene for Joubert syndrome.
Am J Med Genet A
; 191(8): 2156-2163, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37227088
10.
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.
Neuropediatrics
; 54(3): 217-221, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35642300
11.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34675124
12.
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.
BMC Pediatr
; 23(1): 590, 2023 11 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37993833
13.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Proc Natl Acad Sci U S A
; 117(2): 1113-1118, 2020 01 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31879347
14.
[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 21-25, 2023 Jan 10.
Artigo
Chinês
| MEDLINE | ID: mdl-36584995
15.
The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.
J Neurosci
; 41(17): 3932-3943, 2021 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33741721
16.
Genotype-phenotype correlates in Joubert syndrome: A review.
Am J Med Genet C Semin Med Genet
; 190(1): 72-88, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35238134
17.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Am J Med Genet C Semin Med Genet
; 190(1): 121-130, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35312150
18.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Am J Hum Genet
; 104(4): 731-737, 2019 04 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30905400
19.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
; 188(8): 2360-2366, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35751429
20.
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
Am J Med Genet A
; 188(3): 847-857, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34951506