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Quoted phrase not found in phrase index: "Senior-Loken syndrome 8"
Page 1
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.
In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cy …
In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is o …
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. ...Cone and rod responses were extinguished in 53 of 55 patients (96.4%). Characteristic fundus changes were observed in CEP290- …
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthi …
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 …
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A. Grudzinska Pechhacker MK, et al. Ophthalmic Genet. 2024 Feb;45(1):95-102. doi: 10.1080/13816810.2023.2215332. Epub 2023 May 29. Ophthalmic Genet. 2024. PMID: 37246745
BACKGROUND: The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Loken syndrome. Detailed exams are warranted to …
BACKGROUND: The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such …
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.
Cross-sectional and longitudinal data were collected. Mean observation time was 7.56.1 years. RESULTS: In total, 51% of the children presented with isolated nephronophthisis, whereas the other 49% exhibited related ciliopathies. ...A homozygous NPHP1 deletion was, by far, …
Cross-sectional and longitudinal data were collected. Mean observation time was 7.56.1 years. RESULTS: In total, 51% of the children …
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.
METHODS: DNA samples from 276 individuals with nonsyndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. ...Four of these have been previously report …
METHODS: DNA samples from 276 individuals with nonsyndromic LCA were screened for variations in the NPHP5 gene. Each had been previously scr …
Mapping of gene loci for nephronophthisis type 4 and Senior-Loken 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.
Multipoint linkage analysis for the remaining six families with NPHP together yielded a maximum LOD score (Z(max)) of 8.9 (at D1S253). We thus identified a new locus, NPHP4, for nephronophthisis. ...On the basis of haplotype sharing by descent, we obtained a multipo …
Multipoint linkage analysis for the remaining six families with NPHP together yielded a maximum LOD score (Z(max)) of 8.9 (at …
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S, Min X, Zhu Y, Zhou X. Wen S, et al. BMC Pediatr. 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. BMC Pediatr. 2022. PMID: 35610621 Free PMC article.
Thus genetic testing helps us to filter other possible multi-systemic diseases in children patients with eye disorder. CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00), severe ambly …
Thus genetic testing helps us to filter other possible multi-systemic diseases in children patients with eye disorder. CASE PRESENTATION: A …
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C. Fehrenbach H, et al. Pediatr Nephrol. 2014 Aug;29(8):1451-6. doi: 10.1007/s00467-014-2762-2. Epub 2014 Feb 7. Pediatr Nephrol. 2014. PMID: 24504730
BACKGROUND: An emerging number of clinically and genetically heterogeneous diseases now collectively termed ciliopathies have been connected to the dysfunction of primary cilia. We describe an 8-year-old girl with a complex phenotype that did not clearly match any familiar …
BACKGROUND: An emerging number of clinically and genetically heterogeneous diseases now collectively termed ciliopathies have been connected …
Threatening drug-drug interaction in a kidney transplant patient with coronavirus disease 2019 (COVID-19).
Bartiromo M, Borchi B, Botta A, Bagalà A, Lugli G, Tilli M, Cavallo A, Xhaferi B, Cutruzzulà R, Vaglio A, Bresci S, Larti A, Bartoloni A, Cirami C. Bartiromo M, et al. Transpl Infect Dis. 2020 Aug;22(4):e13286. doi: 10.1111/tid.13286. Epub 2020 Jul 14. Transpl Infect Dis. 2020. PMID: 32279418 Free PMC article.
We present the case of a 36-year-old kidney-transplanted woman affected by Senior-Loken syndrome diagnosed with COVID-19 pneumonia after a contact with her positive mother. ...Hydroxychloroquine and lopinavir/ritonavir were started, and the antiviral drug was …
We present the case of a 36-year-old kidney-transplanted woman affected by Senior-Loken syndrome diagnosed with COVID-1 …