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95 results

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Page 1
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: shono a. 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
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: shono a. 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.
Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K. Sakakibara N, et al. Among authors: shono a. J Hum Genet. 2019 Jan;64(1):3-9. doi: 10.1038/s10038-018-0532-x. Epub 2018 Nov 6. J Hum Genet. 2019. PMID: 30401917
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.
Rossanti R, Shono A, Miura K, Hattori M, Yamamura T, Nakanishi K, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Sakakibara N, Kaito H, Nagase H, Morisada N, Asanuma K, Matsuo M, Nozu K, Iijima K. Rossanti R, et al. Among authors: shono a. J Hum Genet. 2019 Jul;64(7):673-679. doi: 10.1038/s10038-019-0606-4. Epub 2019 Apr 23. J Hum Genet. 2019. PMID: 31015583
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: shono a. 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.
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: shono a. 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: shono a. 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.
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N. Miyake N, et al. Among authors: shono a. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24. Am J Hum Genet. 2015. PMID: 26411495 Free PMC article.
95 results