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Quoted phrase not found in phrase index: "Senior-Loken syndrome 9"
Page 1
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. ...RESULTS: Variants in 5 genes were identified in 74 patients from 70 unrelated families, including CEP290 (61.4%), IQCB1 (28.6%), NPH …
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthi …
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. Taiwan J Obstet Gynecol. 2007. PMID: 17389183 Free article. Review.
Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. ...
Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus …
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.
An association of NPH with retinitis pigmentosa is known as the Senior-Loken syndrome (SLS). Hepatic fibrosis, skeletal defects, and central nervous system abnormalities have been described in association with NPH but are typically absent in MCD. ...
An association of NPH with retinitis pigmentosa is known as the Senior-Loken syndrome (SLS). Hepatic fibrosis, skeletal …
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG. Stone EM, et al. Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. Arch Ophthalmol. 2011. PMID: 21220633 Free PMC article.
Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X). All 9 patients had severe visual loss from early childhood but none had overt renal dis …
Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) …
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
Morisada N, Hamada R, Miura K, Ye MJ, Nozu K, Hattori M, Iijima K. Morisada N, et al. CEN Case Rep. 2020 Aug;9(3):260-265. doi: 10.1007/s13730-020-00472-y. Epub 2020 Apr 6. CEN Case Rep. 2020. PMID: 32253632 Free PMC article.
To date, SCLT1 has been reported as the causative gene of oral-facial-digital syndrome type IX, and Senior-Loken syndrome. The phenotypes of both the present patients were compatible with BBS. ...
To date, SCLT1 has been reported as the causative gene of oral-facial-digital syndrome type IX, and Senior-Loken syndrome …
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-associated ne …
RESULTS: In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence o …