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Quoted phrase not found in phrase index: "Nephrotic Syndrome - MYO1E Associated"
Page 1
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA. Al Riyami MS, et al. Mol Genet Genomic Med. 2023 Sep;11(9):e2201. doi: 10.1002/mgg3.2201. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204080 Free PMC article.
BACKGROUND: Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (<3.5 g/dL), edema, and hyperlipidemia. ...Pathogenic variants in …
BACKGROUND: Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined …
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Lennon R, Stuart HM, Bierzynska A, Randles MJ, Kerr B, Hillman KA, Batra G, Campbell J, Storey H, Flinter FA, Koziell A, Welsh GI, Saleem MA, Webb NJ, Woolf AS. Lennon R, et al. Pediatr Nephrol. 2015 Sep;30(9):1459-65. doi: 10.1007/s00467-015-3067-9. Epub 2015 Mar 5. Pediatr Nephrol. 2015. PMID: 25739341 Free PMC article.
BACKGROUND: Mutations in podocyte and basement membrane genes are associated with a growing spectrum of glomerular disease affecting adults and children. ...In striking contrast, a sister presented with end-stage renal disease (ESRD) at 8 years of age and an infant brother …
BACKGROUND: Mutations in podocyte and basement membrane genes are associated with a growing spectrum of glomerular disease affecting …
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T. Nandlal L, et al. Eur J Pediatr. 2022 Oct;181(10):3595-3606. doi: 10.1007/s00431-022-04581-x. Epub 2022 Aug 3. Eur J Pediatr. 2022. PMID: 35920919 Free PMC article.
There is a paucity of data identifying genetic mutations that account for the high rate of steroid-resistant nephrotic syndrome (SRNS) in a South African paediatric population. The aim was to identify causal mutations in genes implicated in SRNS within a South Afric …
There is a paucity of data identifying genetic mutations that account for the high rate of steroid-resistant nephrotic syndrome …