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Page 1
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. Positional cloning and candidate gene approaches led to the identification of eight causati …
Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cereb …
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, …
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" …
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associ …
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Murga-Zamalloa CA, Swaroop A, Khanna H. Murga-Zamalloa CA, et al. J Genet. 2009 Dec;88(4):399-407. doi: 10.1007/s12041-009-0061-7. J Genet. 2009. PMID: 20090203 Free PMC article. Review.
Here, we highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases, including retinitis pigmentosa, Leber congenital amaurosis (LCA), Joubert synd …
Here, we highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in …