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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: nakanishi k. 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
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: nakanishi k. 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
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: nakanishi k. 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
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.
Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N, Ishimori S, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Ninchoji T, Morioka I, Nagase H, Taniguchi-Ikeda M, Kaito H, Iijima K. Matsunoshita N, et al. Among authors: nakanishi k. J Hum Genet. 2018 Jul;63(8):887-892. doi: 10.1038/s10038-018-0470-7. Epub 2018 May 30. J Hum Genet. 2018. PMID: 29849040
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: nakanishi k. 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
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: nakanishi k. 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: nakanishi k. 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
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: nakanishi k. 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.
2,947 results