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1987
2025

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

Year Number of Results
1987 1
1989 1
1990 1
1991 1
1992 4
1993 1
1994 1
1995 1
1996 2
1997 2
1998 1
1999 4
2001 2
2002 6
2003 1
2004 3
2005 5
2006 2
2007 5
2008 4
2009 4
2010 4
2011 8
2012 4
2013 7
2014 6
2015 5
2016 4
2017 3
2018 4
2019 6
2020 12
2021 6
2022 5
2023 6
2024 4
2025 2

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121 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.
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.
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with later …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasi …
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 …
Diagnostic Approach to Cerebellar Hypoplasia.
Accogli A, Addour-Boudrahem N, Srour M. Accogli A, et al. Cerebellum. 2021 Aug;20(4):631-658. doi: 10.1007/s12311-020-01224-5. Epub 2021 Feb 3. Cerebellum. 2021. PMID: 33534089 Review.
Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. ...Traditionally, neuroimaging has been a key tool to categorize CH based on the pattern of cerebellar involvement (e.g., hypoplasia of cerebellar vermis only vs.
Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. ...Traditionally, neuroimaging has been a k
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 …
Chiari Malformations.
Mancarella C, Delfini R, Landi A. Mancarella C, et al. Acta Neurochir Suppl. 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. Acta Neurochir Suppl. 2019. PMID: 30610307 Review.
BACKGROUND: Chiari malformations (CM) represent a group of anomalies characterized by descent of the cerebellar tonsils or vermis into the cervical spinal canal. These malformations can be associated with abnormalities such as hydrocephalus, spina bifida, hyd …
BACKGROUND: Chiari malformations (CM) represent a group of anomalies characterized by descent of the cerebellar tonsils or vermis
[Dandy-Walker malformation].
Reith W, Haussmann A. Reith W, et al. Radiologe. 2018 Jul;58(7):629-635. doi: 10.1007/s00117-018-0403-7. Radiologe. 2018. PMID: 29797040 Review. German.
It is defined by hypoplasia and upward rotation of the vermis cerebelli, a cystic enlargement of the fourth ventricle and in total an enlarged posterior fossa with cranially shifted position of the lateral sinus, tentorium and torcula herophili. ...In addition to these cla …
It is defined by hypoplasia and upward rotation of the vermis cerebelli, a cystic enlargement of the fourth ventricle and in total an …
[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.
Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome. ...
Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most commo …
121 results