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Page 1
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: nozu k, nozu y. 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.
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: nozu k, nozu y. 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.
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: nozu k, nozu y. 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
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.
Yamamura T, Nozu K, Fu XJ, Nozu Y, Ye MJ, Shono A, Yamanouchi S, Minamikawa S, Morisada N, Nakanishi K, Shima Y, Yoshikawa N, Ninchoji T, Morioka I, Kaito H, Iijima K. Yamamura T, et al. Among authors: nozu y. Kidney Int Rep. 2017 May 4;2(5):850-855. doi: 10.1016/j.ekir.2017.04.011. eCollection 2017 Sep. Kidney Int Rep. 2017. PMID: 29270492 Free PMC article.
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K, Fujimura J, Ashida A, Kitamura M, Kawano M, Shimabukuro W, Kitabayashi C, Imafuku A, Tamagaki K, Kamei K, Okamoto K, Fujinaga S, Oka M, Igarashi T, Miyazono A, Sawanobori E, Fujimaru R, Nakanishi K, Shima Y, Matsuo M, Ye MJ, Nozu Y, Morisada N, Kaito H, Iijima K. Horinouchi T, et al. Among authors: nozu y. J Am Soc Nephrol. 2018 Aug;29(8):2244-2254. doi: 10.1681/ASN.2018030228. Epub 2018 Jun 29. J Am Soc Nephrol. 2018. PMID: 29959198 Free PMC article.
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
Yamamura T, Nozu K, Minamikawa S, Horinouchi T, Sakakibara N, Nagano C, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Morisada N, Kaito H, Iijima K. Yamamura T, et al. Among authors: nozu y. Mol Genet Genomic Med. 2019 Sep;7(9):e883. doi: 10.1002/mgg3.883. Epub 2019 Jul 30. Mol Genet Genomic Med. 2019. PMID: 31364286 Free PMC article. Clinical Trial.
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: nozu y. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 Free PMC article.
69 results