PubMed (OMIM) for id: 96045

Year	Number of Results
1961	1
1969	2
1970	3
1973	1
1975	1
1976	1
1977	2
1979	1
1985	1
1992	1
1993	1
1994	1
1995	1
1998	1
2002	3
2005	1
2024	0

1

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Otto EA, et al. Nat Genet. 2005 Mar;37(3):282-8. doi: 10.1038/ng1520. Epub 2005 Feb 20. Nat Genet. 2005. PMID: 15723066

2

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

SENIOR B, FRIEDMANN AI, BRAUDO JL. SENIOR B, et al. Am J Ophthalmol. 1961 Nov;52:625-33. doi: 10.1016/0002-9394(61)90147-7. Am J Ophthalmol. 1961. PMID: 13910672 No abstract available.

3

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

4

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F. Schuermann MJ, et al. Am J Hum Genet. 2002 May;70(5):1240-6. doi: 10.1086/340317. Epub 2002 Mar 27. Am J Hum Genet. 2002. PMID: 11920287 Free PMC article.

5

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F. Omran H, et al. J Am Soc Nephrol. 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. J Am Soc Nephrol. 2002. PMID: 11752023

6

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Caridi G, et al. Am J Kidney Dis. 1998 Dec;32(6):1059-62. doi: 10.1016/s0272-6386(98)70083-6. Am J Kidney Dis. 1998. PMID: 9856524 Review.

7

Senior-Loken syndrome: revisited.

Warady BA, Cibis G, Alon U, Blowey D, Hellerstein S. Warady BA, et al. Pediatrics. 1994 Jul;94(1):111-2. Pediatrics. 1994. PMID: 8008515 No abstract available.

8

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

9

Hereditary sclerosing glomerulopathy in the conorenal syndrome.

Mendley SR, Poznanski AK, Spargo BH, Langman CB. Mendley SR, et al. Am J Kidney Dis. 1995 May;25(5):792-7. doi: 10.1016/0272-6386(95)90556-1. Am J Kidney Dis. 1995. PMID: 7747734

10

Hereditary renal-retinal dysplasia.

Schimke RN. Schimke RN. Ann Intern Med. 1969 Apr;70(4):735-44. doi: 10.7326/0003-4819-70-4-735. Ann Intern Med. 1969. PMID: 5771531 No abstract available.

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