PubMed for id: 1615779

Year	Number of Results
1990	1
2006	1
2010	2
2011	1
2012	2
2013	1
2015	1
2018	1
2019	1
2020	1
2021	2
2022	1
2023	2
2024	1

1

Visual function in children with Joubert syndrome.

Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.

2

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R. Zhu T, et al. Am J Ophthalmol. 2023 Apr;248:96-106. doi: 10.1016/j.ajo.2022.11.023. Epub 2022 Dec 7. Am J Ophthalmol. 2023. PMID: 36493848

3

Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.

Zhu H, Chen W, Ren H, Zhang Y, Niu Y, Wu D, Jiang L. Zhu H, et al. Eur J Med Genet. 2021 Jun;64(6):104212. doi: 10.1016/j.ejmg.2021.104212. Epub 2021 Mar 30. Eur J Med Genet. 2021. PMID: 33794348 Free article.

4

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.

Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y. Zhang YW, et al. Mol Genet Genomics. 2021 Jan;296(1):33-40. doi: 10.1007/s00438-020-01726-1. Epub 2020 Sep 18. Mol Genet Genomics. 2021. PMID: 32944789

5

Apical PtdIns(4,5)P₂ is required for ciliogenesis and suppression of polycystic kidney disease.

Xu W, Jin M, Huang W, Wang H, Hu R, Li J, Cao Y. Xu W, et al. FASEB J. 2019 Feb;33(2):2848-2857. doi: 10.1096/fj.201800385RRR. Epub 2018 Oct 15. FASEB J. 2019. PMID: 30321068

6

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.

7

Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation.

Weng L, Lin YF, Li AL, Wang CE, Yan S, Sun M, Gaertig MA, Mitha N, Kosaka J, Wakabayashi T, Xu X, Tang B, Li S, Li XJ. Weng L, et al. J Neurosci. 2013 May 8;33(19):8172-84. doi: 10.1523/JNEUROSCI.0119-13.2013. J Neurosci. 2013. PMID: 23658157 Free PMC article.

8

Molecular characterization of Joubert syndrome in Saudi Arabia.

Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS. Alazami AM, et al. Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11. Hum Mutat. 2012. PMID: 22693042

9

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.

Pastora N, Peralta J, Canal-Fontcuberta I, Grabowska A, Pulido JS, Abelairas J, Armada F, Garcia-Alix A. Pastora N, et al. Ophthalmic Genet. 2012 Jun;33(2):116-8. doi: 10.3109/13816810.2011.626012. Epub 2012 Mar 15. Ophthalmic Genet. 2012. PMID: 22420539

10

Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.

Takahashi K, Oka A, Mizuguchi M, Saitoh M, Takita J, Sato A, Mimaki M, Kato M, Ogawa S, Igarashi T. Takahashi K, et al. Brain Dev. 2011 Apr;33(4):353-6. doi: 10.1016/j.braindev.2010.06.014. Epub 2010 Aug 21. Brain Dev. 2011. PMID: 20728296

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

13 results

Results by year