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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.
The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Loken syndrome), mental retardation, cerebellar at …
The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some chi …
[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. Infantile nephronophtisis is a recessive autosomic tubulo-interstitial nephritis wi …
Some children present with extrarenal symptoms: tapetoretinal degeneration (Senior-Loken syndrome), mental retardation, …
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.
Associations with extrarenal symptoms have been reported, mainly with Leber amaurosis (termed Senior-Loken syndrome). By means of linkage analysis a gene NPH1 for the purely renal form of NPH has been localized to chromosome 2. Genetic heterogeneity has been …
Associations with extrarenal symptoms have been reported, mainly with Leber amaurosis (termed Senior-Loken syndrome). B …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndrome), distinct cerebellar and brainstem congenital defects and disorders with cerebro-oculo-renal manifestations. ...
Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndro
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
Satran D, Pierpont ME, Dobyns WB. Satran D, et al. Am J Med Genet. 1999 Oct 29;86(5):459-69. Am J Med Genet. 1999. PMID: 10508989 Review.
We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may inclu …
We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malfo …
The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M. Hildebrandt F, et al. Clin Investig. 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. Clin Investig. 1992. PMID: 1450635 Review.
Although they are almost indistinguishable clinically and pathologically, the two conditions are separated by a characteristic age of onset (11.5 years in NPH vs. 28.5 years in MCD) and by the mode of inheritance (autosomal recessive in NPH vs. autosomal dominant in …
Although they are almost indistinguishable clinically and pathologically, the two conditions are separated by a characteristic age of onset …
Nephronophthisis-medullary cystic disease: clinical and genetic aspects.
Gusmano R, Ghiggeri GM, Caridi G. Gusmano R, et al. J Nephrol. 1998 Sep-Oct;11(5):224-8. J Nephrol. 1998. PMID: 9831234 Review.
Since the beginning of the 1990s, studies on molecular genetics have led to the identification of a candidate gene for NPH on chromosome 2: in 60-70% of the NPH population a large homozygous deletion has been found. In NPH-associated retinal lesions (Senior Loken
Since the beginning of the 1990s, studies on molecular genetics have led to the identification of a candidate gene for NPH on chromosome 2: …