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

Year Number of Results
1990 1
1991 1
1992 1
1997 1
1998 2
1999 2
2006 1
2007 4
2008 1
2009 2
2010 3
2011 1
2012 1
2013 1
2014 1
2018 3
2020 1
2021 1
2024 0

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26 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.
[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.
Nephronophthisis.
Salomon R, Saunier S, Niaudet P. Salomon R, et al. Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Pediatr Nephrol. 2009. PMID: 18607645 Free PMC article. Review.
Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. ...
Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cereb …
Ciliopathy: Senior-Loken Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:175-178. doi: 10.1007/978-3-319-95046-4_34. Adv Exp Med Biol. 2018. PMID: 30578507 Review.
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. ...
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. ...
[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.
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Jo …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
Nephronophthisis-associated ciliopathies.
Hildebrandt F, Zhou W. Hildebrandt F, et al. J Am Soc Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub 2007 May 18. J Am Soc Nephrol. 2007. PMID: 17513324 Review.
Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is dominant. NPHP can be associated with retinitis pigmentosa (Senior-Loken syndrome), …
Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, …
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.
[Nephronophtisis].
Niaudet P, Salomon R. Niaudet P, et al. Nephrol Ther. 2006 Sep;2(4):200-6. doi: 10.1016/j.nephro.2006.06.006. Epub 2006 Aug 1. Nephrol Ther. 2006. PMID: 16966065 Review. French.
Some children present with extrarenal symptoms: tapetoretinal degeneration (Senior-Loken syndrome), mental retardation, cerebellar ataxia, bone anomalies or liver involvement. ...
Some children present with extrarenal symptoms: tapetoretinal degeneration (Senior-Loken syndrome), mental retardation, …
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E. Valente EM, et al. Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Handb Clin Neurol. 2013. PMID: 23622411 Review.
Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectively known as "ciliopathies." These include isolated nephronophthisis, Senior-Loken syndrome, Bardet-Biedl syndrome and, …
Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectiv …
26 results