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Female X-linked Alport syndrome with somatic mosaicism.
Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K. Yokota K, et al. Among authors: horinouchi t. Clin Exp Nephrol. 2017 Oct;21(5):877-883. doi: 10.1007/s10157-016-1352-y. Epub 2016 Oct 31. Clin Exp Nephrol. 2017. PMID: 27796712
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. Among authors: horinouchi t. 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.
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. Among authors: horinouchi t. 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
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K. Inoue T, et al. Among authors: horinouchi t. Clin Exp Nephrol. 2020 Jul;24(7):606-612. doi: 10.1007/s10157-020-01876-x. Epub 2020 Mar 22. Clin Exp Nephrol. 2020. PMID: 32201916 Free PMC article.
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano A, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, Rossanti R, Ye MJ, Nozu Y, Matsuo M, Kai H, Iijima K, Nozu K. Yamamura T, et al. Among authors: horinouchi t. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 Free PMC article.
Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome.
Ishiko S, Tanaka A, Takeda A, Hara M, Hamano N, Koizumi M, Ueno T, Hayashi H, Kondo A, Nagai S, Aoto Y, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Shima Y, Nakanishi K, Yoshikawa N, Iijima K, Nozu K. Ishiko S, et al. Among authors: horinouchi t. Clin Exp Nephrol. 2021 Jul;25(7):779-787. doi: 10.1007/s10157-021-02054-3. Epub 2021 Mar 20. Clin Exp Nephrol. 2021. PMID: 33743099
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Rossanti R, Nozu K, Fukunaga A, Nagano C, Horinouchi T, Yamamura T, Sakakibara N, Minamikawa S, Ishiko S, Aoto Y, Okada E, Ninchoji T, Kato N, Maruyama S, Kono K, Nishi S, Iijima K, Fujii H. Rossanti R, et al. Among authors: horinouchi t. Clin Exp Nephrol. 2021 Nov;25(11):1224-1230. doi: 10.1007/s10157-021-02099-4. Epub 2021 Jun 14. Clin Exp Nephrol. 2021. PMID: 34128148
327 results