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Page 1
Clinical and pathological investigation of oligomeganephronia.
Kitakado H, Horinouchi T, Masuda C, Kondo A, Nagai S, Aoto Y, Sakakibara N, Ninchoji T, Yoshikawa N, Nozu K. Kitakado H, et al. Among authors: sakakibara n. Pediatr Nephrol. 2023 Mar;38(3):757-762. doi: 10.1007/s00467-022-05687-y. Epub 2022 Jul 21. Pediatr Nephrol. 2023. PMID: 35861872
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: sakakibara n. 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: sakakibara n. 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
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan. Jia X, et al. J Am Soc Nephrol. 2018 Aug;29(8):2189-2199. doi: 10.1681/ASN.2017080859. Epub 2018 Jul 16. J Am Soc Nephrol. 2018. PMID: 30012571 Free PMC article.
TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K. Nagano C, et al. Among authors: sakakibara n. CEN Case Rep. 2019 Feb;8(1):14-17. doi: 10.1007/s13730-018-0356-8. Epub 2018 Aug 7. CEN Case Rep. 2019. PMID: 30088155 Free PMC 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. 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
The utility of urinary CD80 as a diagnostic marker in patients with renal diseases.
Minamikawa S, Nozu K, Maeta S, Yamamura T, Nakanishi K, Fujimura J, Horinouchi T, Nagano C, Sakakibara N, Nagase H, Shima H, Noda K, Ninchoji T, Kaito H, Iijima K. Minamikawa S, et al. Among authors: sakakibara n. Sci Rep. 2018 Nov 23;8(1):17322. doi: 10.1038/s41598-018-35798-2. Sci Rep. 2018. PMID: 30470792 Free PMC article.
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
Nakanishi K, Okamoto T, Nozu K, Hara S, Sato Y, Hayashi A, Takahashi T, Nagano C, Sakakibara N, Horinouchi T, Fujimura J, Minamikawa S, Yamamura T, Rossanti R, Nagase H, Kaito H, Ariga T, Iijima K. Nakanishi K, et al. Among authors: sakakibara n. Clin Exp Nephrol. 2019 May;23(5):669-675. doi: 10.1007/s10157-018-1682-z. Epub 2018 Dec 24. Clin Exp Nephrol. 2019. PMID: 30584653
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura J, Nozu K, Yamamura T, Minamikawa S, Nakanishi K, Horinouchi T, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Miyako K, Nozu Y, Morisada N, Nagase H, Ninchoji T, Kaito H, Iijima K. Fujimura J, et al. Among authors: sakakibara n. Kidney Int Rep. 2018 Sep 28;4(1):119-125. doi: 10.1016/j.ekir.2018.09.015. eCollection 2019 Jan. Kidney Int Rep. 2018. PMID: 30596175 Free PMC article.
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: sakakibara n. 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
379 results