Genetic Basis of Nephrotic Syndrome
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-52719-8_90
Reference159 articles.
1. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:–1279, 89. https://doi.org/10.1681/ASN.2014050489. Epub 2014 Oct 27. PMID: 25349199; PMCID: PMC4446877
2. Song X, Fang X, Tang X, Cao Q, Zhai Y, Chen J, et al. COQ8B nephropathy: early detection and optimal treatment. Mol Genet Genomic Med. 8:e1360. https://doi.org/10.1002/mgg3.1360.
3. Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 1999;64:51–61. https://doi.org/10.1086/302182.
4. Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, et al. NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Hum Mutat. 2014;35:178–86. https://doi.org/10.1002/humu.22485.
5. Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, et al. PLoS One. 2017;12:e0180926. https://doi.org/10.1371/journal.pone.0180926.
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1. The hereditary nephrotic syndrome in children: features of clinical phenotype and genotype, pathogenesis, renal prognosis of isolated and syndromic forms;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2023-04-26
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