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Page 1
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: fujimura j. 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
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: fujimura j. 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: fujimura j. 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 comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Nakanishi K, Nozu K, Hiramoto R, Minamikawa S, Yamamura T, Fujimura J, Horinouchi T, Ninchoji T, Kaito H, Morisada N, Ishimori S, Nakanishi K, Morioka I, Awano H, Matsuo M, Iijima K. Nakanishi K, et al. Among authors: fujimura j. Eur J Med Genet. 2017 Dec;60(12):631-634. doi: 10.1016/j.ejmg.2017.08.001. Epub 2017 Aug 9. Eur J Med Genet. 2017. PMID: 28803024
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
Yamamura T, Nozu K, Miyoshi Y, Nakanishi K, Fujimura J, Horinouchi T, Minamikawa S, Mori N, Fujimaru R, Nakanishi K, Ninchoji T, Kaito H, Mariko TI, Morioka I, Matsuo M, Iijima K. Yamamura T, et al. Among authors: fujimura j. BMC Nephrol. 2017 Dec 4;18(1):353. doi: 10.1186/s12882-017-0774-4. BMC Nephrol. 2017. PMID: 29202719 Free PMC article.
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K. Nagano C, et al. Among authors: fujimura j. Clin Exp Nephrol. 2018 Aug;22(4):881-888. doi: 10.1007/s10157-018-1534-x. Epub 2018 Jan 25. Clin Exp Nephrol. 2018. PMID: 29372472
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.
Minamikawa S, Nozu K, Nozu Y, Yamamura T, Taniguchi-Ikeda M, Nakanishi K, Fujimura J, Horinouchi T, Shima Y, Nakanishi K, Hattori M, Kanda K, Tanaka R, Morisada N, Nagano C, Sakakibara N, Nagase H, Morioka I, Kaito H, Iijima K. Minamikawa S, et al. Among authors: fujimura j. J Hum Genet. 2018 May;63(5):589-595. doi: 10.1038/s10038-018-0415-1. Epub 2018 Feb 19. J Hum Genet. 2018. PMID: 29459630
Clinical features predicting group A streptococcal pharyngitis in a Japanese paediatric primary emergency medical centre.
Nishiyama M, Morioka I, Taniguchi-Ikeda M, Mori T, Tomioka K, Nakanishi K, Fujimura J, Nishimura N, Nozu K, Nagase H, Ishibashi K, Ishida A, Iijima K. Nishiyama M, et al. Among authors: fujimura j. J Int Med Res. 2018 May;46(5):1791-1800. doi: 10.1177/0300060517752954. Epub 2018 Mar 8. J Int Med Res. 2018. PMID: 29517940 Free PMC article.
119 results