Nozu Y - Search Results

1

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.

Tsuji Y, Nozu K, Sofue T, Hara S, Nakanishi K, Yamamura T, Minamikawa S, Nozu Y, Kaito H, Fujimura J, Horinouchi T, Morisada N, Morioka I, Taniguchi-Ikeda M, Matsuo M, Iijima K. Tsuji Y, et al. Among authors: nozu y. Nephron. 2018;138(2):166-171. doi: 10.1159/000484209. Epub 2017 Nov 3. Nephron. 2018. PMID: 29131116

2

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.

Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N. Krol RP, et al. Among authors: nozu k, nozu y. Nephrol Dial Transplant. 2008 Aug;23(8):2525-30. doi: 10.1093/ndt/gfn005. Epub 2008 Mar 10. Nephrol Dial Transplant. 2008. PMID: 18332068

3

Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.

Nozu K, Przybyslaw Krol R, Ohtsuka Y, Nakanishi K, Yoshikawa N, Nozu Y, Kaito H, Kanda K, Hashimura Y, Hamasaki Y, Iijima K, Matsuo M. Nozu K, et al. Among authors: nozu y. Pediatr Nephrol. 2008 Nov;23(11):2085-90. doi: 10.1007/s00467-008-0878-y. Epub 2008 Jun 27. Pediatr Nephrol. 2008. PMID: 18584212

4

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Among authors: nozu y. Hum Genet. 2009 Oct;126(4):533-8. doi: 10.1007/s00439-009-0697-7. Epub 2009 Jun 10. Hum Genet. 2009. PMID: 19513753

5

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.

Nozu K, Iijima K, Nozu Y, Ikegami E, Imai T, Fu XJ, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Among authors: nozu y. Pediatr Res. 2009 Nov;66(5):590-3. doi: 10.1203/PDR.0b013e3181b9b4d3. Pediatr Res. 2009. PMID: 19668106

6

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K. Fu XJ, et al. Among authors: nozu k, nozu y. Clin Exp Nephrol. 2016 Oct;20(5):699-702. doi: 10.1007/s10157-015-1197-9. Epub 2015 Nov 18. Clin Exp Nephrol. 2016. PMID: 26581810

7

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: nozu y. 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

8

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

9

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: nozu y. 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

10

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.

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