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Clinical and histological features in pediatric and adolescent/young adult patients with renal disease: a cross-sectional analysis of the Japan Renal Biopsy Registry (J-RBR).
Urushihara M, Sato H, Shimizu A, Sugiyama H, Yokoyama H, Hataya H, Matsuoka K, Okamoto T, Ogino D, Miura K, Hamada R, Hibino S, Shima Y, Yamamura T, Kitamoto K, Ishihara M, Konomoto T, Hattori M; the Committee for Renal Biopsy and Disease Registry of the Japanese Society of Nephrology. Urushihara M, et al. Among authors: konomoto t. Clin Exp Nephrol. 2021 Sep;25(9):1018-1026. doi: 10.1007/s10157-021-02077-w. Epub 2021 May 28. Clin Exp Nephrol. 2021. PMID: 34047871
X-linked Alport syndrome caused by splicing mutations in COL4A5.
Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K. Nozu K, et al. Among authors: konomoto t. Clin J Am Soc Nephrol. 2014 Nov 7;9(11):1958-64. doi: 10.2215/CJN.04140414. Epub 2014 Sep 2. Clin J Am Soc Nephrol. 2014. PMID: 25183659 Free PMC article.
Cryptic exon activation in SLC12A3 in Gitelman syndrome.
Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: konomoto t. J Hum Genet. 2017 Feb;62(2):335-337. doi: 10.1038/jhg.2016.129. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784896
23 results