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A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. Nozu K, et al. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20. Clin Exp Nephrol. 2019. PMID: 30128941 Free PMC article. Review.
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K. Nagano C, et al. Clin Exp Nephrol. 2018 Aug;22(4):881-888. doi: 10.1007/s10157-018-1534-x. Epub 2018 Jan 25. Clin Exp Nephrol. 2018. PMID: 29372472
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
Nakanishi K, Okamoto T, Nozu K, Hara S, Sato Y, Hayashi A, Takahashi T, Nagano C, Sakakibara N, Horinouchi T, Fujimura J, Minamikawa S, Yamamura T, Rossanti R, Nagase H, Kaito H, Ariga T, Iijima K. Nakanishi K, et al. Clin Exp Nephrol. 2019 May;23(5):669-675. doi: 10.1007/s10157-018-1682-z. Epub 2018 Dec 24. Clin Exp Nephrol. 2019. PMID: 30584653