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Year Number of Results
1974 1
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1989 2
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1993 3
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1998 3
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2001 2
2002 6
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2005 3
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2007 10
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149 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.
Nephronophthisis: a pathological and genetic perspective.
Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Wolf MTF, et al. Pediatr Nephrol. 2024 Jul;39(7):1977-2000. doi: 10.1007/s00467-023-06174-8. Epub 2023 Nov 6. Pediatr Nephrol. 2024. PMID: 37930417 Review.
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve the retina (e.g., with Senior-Loken syndrome), CNS (central nervous system) (e.g., with Joubert syndrome), liver (e.g., …
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve t …
[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.
[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.
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. ...
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.
NPHP can be associated with retinitis pigmentosa (Senior-Loken syndrome), liver fibrosis, and cerebellar vermis aplasia (Joubert syndrome) in approximately 10% of patients. ...
NPHP can be associated with retinitis pigmentosa (Senior-Loken syndrome), liver fibrosis, and cerebellar vermis aplasia …
Nephronophthisis.
Simms RJ, Eley L, Sayer JA. Simms RJ, et al. Eur J Hum Genet. 2009 Apr;17(4):406-16. doi: 10.1038/ejhg.2008.238. Epub 2008 Dec 10. Eur J Hum Genet. 2009. PMID: 19066617 Free PMC article.
NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome. Recent molecular genetic advances have allowed identification of several g …
NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and r …
Senior Loken Syndrome.
Kaur A, Dhir SK, Goyal G, Mittal N, Goyal RK. Kaur A, et al. J Clin Diagn Res. 2016 Nov;10(11):SD03-SD04. doi: 10.7860/JCDR/2016/21832.8816. Epub 2016 Nov 1. J Clin Diagn Res. 2016. PMID: 28050464 Free PMC article.
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. ...
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progre …
[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, …
149 results