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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 5
2012 3
2013 4
2014 3
2015 4
2016 2
2017 2
2018 2
2019 1
2020 7
2021 3
2022 3
2023 2

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34 results

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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". ...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation re …
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign," and variable organ involvement. ...
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem mal …
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
[Ciliopathies].
Gerth-Kahlert C, Koller S. Gerth-Kahlert C, et al. Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13. Klin Monbl Augenheilkd. 2018. PMID: 29534263 Review. German.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
Cerebellar dentate dysplasia.
Barth PG. Barth PG. Brain Dev. 2011 Sep;33(8):621-6. doi: 10.1016/j.braindev.2011.02.008. Epub 2011 Mar 26. Brain Dev. 2011. PMID: 21441008 Review.
Dysplasia of the cerebellar dentate nucleus is a state of apparent maturational arrest that involves the cerebellar dentate nucleus. ...
Dysplasia of the cerebellar dentate nucleus is a state of apparent maturational arrest that involves the cerebellar dentate nu …
New Insights into Cystic Kidney Diseases.
Mochizuki T, Makabe S, Aoyama Y, Kataoka H, Nitta K. Mochizuki T, et al. Contrib Nephrol. 2018;195:31-41. doi: 10.1159/000486932. Epub 2018 May 7. Contrib Nephrol. 2018. PMID: 29734148 Review.
[Hereditary cerebro-oculo-renal syndromes].
Sessa G, Hjortshøj TD, Egfjord M. Sessa G, et al. Ugeskr Laeger. 2014 Feb 17;176(8A):V07130452. Ugeskr Laeger. 2014. PMID: 25350305 Free article. Review. Danish.
34 results