相似文献
1
[Joubert syndrome and neurofibromatosis type 1].
Rev Neurol. 2022 May 1;74(9):312-313. doi: 10.33588/rn.7409.2021446.
2
Joubert syndrome with nephronophthisis in neurofibromatosis type 1.
Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.
3
Bipolar disorder with intellectual disability in Joubert syndrome: A case report.
Psychiatry Clin Neurosci. 2019 Dec;73(12):761-762. doi: 10.1111/pcn.12937. Epub 2019 Nov 4.
4
Molar tooth sign is not pathognomonic for Joubert syndrome.
Pediatr Neurol. 2013 Dec;49(6):515-6. doi: 10.1016/j.pediatrneurol.2013.08.013. Epub 2013 Oct 10.
5
When is biopsy-proven TIN not simply TIN? Answers.
Pediatr Nephrol. 2017 Jun;32(6):977-979. doi: 10.1007/s00467-016-3478-2. Epub 2016 Oct 7.
6
A case with Joubert syndrome diagnosed at an advanced age.
Med Clin (Barc). 2024 Apr 12;162(7):357-358. doi: 10.1016/j.medcli.2023.11.001. Epub 2023 Dec 19.
7
Joubert Syndrome.
Neurosciences (Riyadh). 2019 Jan;24(1):63-65. doi: 10.17712/nsj.2019.1.20190062.
8
When is biopsy-proven TIN not simply TIN? Questions.
Pediatr Nephrol. 2017 Jun;32(6):975-976. doi: 10.1007/s00467-016-3465-7. Epub 2016 Oct 7.
9
"Molar Tooth Sign" Reveals the Cause of Apnea in a Term Neonate.
J Pediatr. 2016 Jul;174:275-275.e1. doi: 10.1016/j.jpeds.2016.03.076. Epub 2016 Apr 23.
10
Joubert Syndrome Associated with Seizures.
J Assoc Physicians India. 2017 Aug;65(8):96.
本文引用的文献
1
[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases].
Rev Neurol. 2021 Aug 15;73(4):115-120. doi: 10.33588/rn.7304.2021066.
2
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
Mol Genet Genomic Med. 2021 Jun;9(6):e1682. doi: 10.1002/mgg3.1682. Epub 2021 Apr 6.
3
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
Eur J Med Genet. 2021 Jun;64(6):104212. doi: 10.1016/j.ejmg.2021.104212. Epub 2021 Mar 30.
4
Joubert syndrome diagnosed renally late.
Clin Kidney J. 2020 Mar 12;14(3):1017-1019. doi: 10.1093/ckj/sfaa007. eCollection 2021 Mar.
5
Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Int J Dev Neurosci. 2020 Oct;80(6):455-463. doi: 10.1002/jdn.10029. Epub 2020 Jul 31.
6
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30.
7
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.
8
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
J Neurol Sci. 2017 May 15;376:7-12. doi: 10.1016/j.jns.2017.02.065. Epub 2017 Mar 1.
9
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.
10
Joubert syndrome with nephronophthisis in neurofibromatosis type 1.
Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.
Zotero 插件