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Page 1
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K. Sakakibara N, et al. Among authors: ninchoji t. Nephrol Dial Transplant. 2022 Jan 25;37(2):262-270. doi: 10.1093/ndt/gfab274. Nephrol Dial Transplant. 2022. PMID: 34586410
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: ninchoji t. 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
Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.
Rossanti R, Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kondo A, Nagai S, Okada E, Ishimori S, Nagase H, Matsui S, Tamagaki K, Ubara Y, Nagahama M, Shima Y, Nakanishi K, Ninchoji T, Matsuo M, Iijima K, Nozu K. Rossanti R, et al. Among authors: ninchoji t. Kidney360. 2021 Oct 13;3(3):497-505. doi: 10.34067/KID.0005252021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582193 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: ninchoji t. 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
Molecular mechanisms determining severity in patients with Pierson syndrome.
Minamikawa S, Miwa S, Inagaki T, Nishiyama K, Kaito H, Ninchoji T, Yamamura T, Nagano C, Sakakibara N, Ishimori S, Hara S, Yoshikawa N, Hirano D, Harada R, Hamada R, Matsunoshita N, Nagata M, Shima Y, Nakanishi K, Nagase H, Takeda H, Morisada N, Iijima K, Nozu K. Minamikawa S, et al. Among authors: ninchoji t. J Hum Genet. 2020 Apr;65(4):355-362. doi: 10.1038/s10038-019-0715-0. Epub 2020 Jan 21. J Hum Genet. 2020. PMID: 31959872
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R, Morisada N, Nozu K, Kamei K, Horinouchi T, Yamamura T, Minamikawa S, Fujimura J, Nagano C, Sakakibara N, Ninchoji T, Kaito H, Ito S, Tanaka R, Iijima K. Rossanti R, et al. Among authors: ninchoji t. J Hum Genet. 2020 Jun;65(6):541-549. doi: 10.1038/s10038-020-0741-y. Epub 2020 Mar 16. J Hum Genet. 2020. PMID: 32203253
FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.
Rossanti R, Watanabe T, Nagano C, Hara S, Horinouchi T, Yamamura T, Sakakibara N, Ninchoji T, Iijima K, Nozu K. Rossanti R, et al. Among authors: ninchoji t. CEN Case Rep. 2021 Feb;10(1):100-105. doi: 10.1007/s13730-020-00529-y. Epub 2020 Sep 9. CEN Case Rep. 2021. PMID: 32902815 Free PMC article.
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H, Nagase H, Tokumoto S, Tomioka K, Nishiyama M, Takeda H, Ninchoji T, Nagano C, Iijima K, Nozu K. Yamaguchi H, et al. Among authors: ninchoji t. Pediatr Int. 2021 Aug;63(8):918-922. doi: 10.1111/ped.14565. Epub 2021 Jul 16. Pediatr Int. 2021. PMID: 33260258
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Rossanti R, Nozu K, Fukunaga A, Nagano C, Horinouchi T, Yamamura T, Sakakibara N, Minamikawa S, Ishiko S, Aoto Y, Okada E, Ninchoji T, Kato N, Maruyama S, Kono K, Nishi S, Iijima K, Fujii H. Rossanti R, et al. Among authors: ninchoji t. Clin Exp Nephrol. 2021 Nov;25(11):1224-1230. doi: 10.1007/s10157-021-02099-4. Epub 2021 Jun 14. Clin Exp Nephrol. 2021. PMID: 34128148
Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants.
Nagano C, Takaoka Y, Kamei K, Hamada R, Ichikawa D, Tanaka K, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Okada E, Horinouchi T, Yamamura T, Tsuji Y, Noguchi Y, Ishimori S, Nagase H, Ninchoji T, Iijima K, Nozu K. Nagano C, et al. Among authors: ninchoji t. Kidney Int Rep. 2021 May 19;6(8):2114-2121. doi: 10.1016/j.ekir.2021.05.009. eCollection 2021 Aug. Kidney Int Rep. 2021. PMID: 34386660 Free PMC article.
107 results