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Quoted phrase not found in phrase index: "Senior-Loken syndrome 8"
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SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y, Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E, Sharon D, Khateb S. Yahalom C, et al. Retina. 2021 Oct 1;41(10):2179-2187. doi: 10.1097/IAE.0000000000003138. Retina. 2021. PMID: 33512896
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Loken syndrome. METHODS: A retrospective study of patients with Senior-Loken syndrome. ...Genetic analysi …
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior- …
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q. Wang J, et al. Am J Ophthalmol. 2023 Aug;252:188-204. doi: 10.1016/j.ajo.2023.03.025. Epub 2023 Mar 27. Am J Ophthalmol. 2023. PMID: 36990420
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthisis. ...During follow-up, 70 of the 74 patients were referred to nephrology, among whom nephronophthisis was not detected in 62 patients (88 …
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthi …
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
However, irrespective of the initial clinical presentation, the kidney function of all patients carrying NPHP1 mutations declined rapidly between the ages of 8 and 16 years, with ESRD at a mean age of 11.42.4 years. In contrast within the non-NPHP1 group, there was no unif …
However, irrespective of the initial clinical presentation, the kidney function of all patients carrying NPHP1 mutations declined rapidly be …
Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P. Quaglia M, et al. Clin Transplant. 2014 Sep;28(9):995-1003. doi: 10.1111/ctr.12408. Epub 2014 Jul 18. Clin Transplant. 2014. PMID: 24961278
RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B …
RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence o …
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.
Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Moalem S, et al. Am J Med Genet A. 2013 Jul;161A(7):1792-6. doi: 10.1002/ajmg.a.36036. Epub 2013 May 24. Am J Med Genet A. 2013. PMID: 23713026
Nephronophthisis associated ciliopathies (NPHP-AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior-Loken syndrome. We report on a male fetus with prenatal ultrasound findings …
Nephronophthisis associated ciliopathies (NPHP-AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel sy …