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Diagnostic strategy for inherited hypomagnesemia.
Horinouchi T, Nozu K, Kamiyoshi N, Kamei K, Togawa H, Shima Y, Urahama Y, Yamamura T, Minamikawa S, Nakanishi K, Fujimura J, Morioka I, Ninchoji T, Kaito H, Nakanishi K, Iijima K. Horinouchi T, et al. Among authors: yamamura t. Clin Exp Nephrol. 2017 Dec;21(6):1003-1010. doi: 10.1007/s10157-017-1396-7. Epub 2017 Mar 1. Clin Exp Nephrol. 2017. PMID: 28251383
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.
Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K. Matsunoshita N, et al. Among authors: yamamura t. Genet Med. 2016 Feb;18(2):180-8. doi: 10.1038/gim.2015.56. Epub 2015 Apr 16. Genet Med. 2016. PMID: 25880437 Free article.
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1.
Kamiyoshi N, Nozu K, Urahama Y, Matsunoshita N, Yamamura T, Minamikawa S, Ninchoji T, Morisada N, Nakanishi K, Kaito H, Iijima K. Kamiyoshi N, et al. Among authors: yamamura t. Clin Exp Nephrol. 2016 Apr;20(2):253-7. doi: 10.1007/s10157-015-1160-9. Epub 2015 Sep 1. Clin Exp Nephrol. 2016. PMID: 26323216
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K. Kamiyoshi N, et al. Among authors: yamamura t. Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-1449. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8. Clin J Am Soc Nephrol. 2016. PMID: 27281700 Free PMC article.
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.
Abe Y, Iyoda M, Nozu K, Hibino S, Hihara K, Yamaguchi Y, Yamamura T, Minamikawa S, Iijima K, Shibata T, Itabashi K. Abe Y, et al. Among authors: yamamura t. Intern Med. 2016;55(19):2843-2847. doi: 10.2169/internalmedicine.55.6873. Epub 2016 Oct 1. Intern Med. 2016. PMID: 27725546 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: yamamura 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
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: yamamura 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
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: yamamura t. J Hum Genet. 2017 Jul;62(7):733-735. doi: 10.1038/jhg.2017.28. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275241
1,269 results