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Year | Number of Results |
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2006 | 1 |
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Nephronophthisis.
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.
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[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, …
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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 …
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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 …
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