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2008 1
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2020 11
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2022 12
2023 4
2024 1

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42 results

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Page 1
Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K. Nagano C, et al. Among authors: ishiko s. Kidney360. 2022 May 24;3(8):1384-1393. doi: 10.34067/KID.0000812022. eCollection 2022 Aug 25. Kidney360. 2022. PMID: 36176665 Free PMC article.
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K. Okada E, et al. Among authors: ishiko s. Clin Exp Nephrol. 2023 Sep;27(9):737-746. doi: 10.1007/s10157-023-02361-x. Epub 2023 May 31. Clin Exp Nephrol. 2023. PMID: 37254000 Free PMC article.
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano A, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, Rossanti R, Ye MJ, Nozu Y, Matsuo M, Kai H, Iijima K, Nozu K. Yamamura T, et al. Among authors: ishiko s. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 Free PMC article.
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N, Nozu K, Yamamura T, Horinouchi T, Nagano C, Ye MJ, Ishiko S, Aoto Y, Rossanti R, Hamada R, Okamoto N, Shima Y, Nakanishi K, Matsuo M, Iijima K, Morisada N. Sakakibara N, et al. Among authors: ishiko s. J Hum Genet. 2022 Jul;67(7):427-440. doi: 10.1038/s10038-022-01020-5. Epub 2022 Feb 9. J Hum Genet. 2022. PMID: 35140360
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R, Horinouchi T, Sakakibara N, Yamamura T, Nagano C, Ishiko S, Aoto Y, Kondo A, Nagai S, Awano H, Nagase H, Matsuo M, Iijima K, Nozu K. Rossanti R, et al. Among authors: ishiko s. Am J Med Genet A. 2022 Sep;188(9):2576-2583. doi: 10.1002/ajmg.a.62885. Epub 2022 Jul 3. Am J Med Genet A. 2022. PMID: 35785516
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: ishiko s. Kidney360. 2021 Oct 13;3(3):497-505. doi: 10.34067/KID.0005252021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582193 Free PMC article.
Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.
Tsuji Y, Yamamura T, Nagano C, Horinouchi T, Sakakibara N, Ishiko S, Aoto Y, Rossanti R, Okada E, Tanaka E, Tsugawa K, Okamoto T, Sawai T, Araki Y, Shima Y, Nakanishi K, Nagase H, Matsuo M, Iijima K, Nozu K. Tsuji Y, et al. Among authors: ishiko s. Kidney Int Rep. 2021 Jul 16;6(10):2585-2593. doi: 10.1016/j.ekir.2021.07.010. eCollection 2021 Oct. Kidney Int Rep. 2021. PMID: 34622098 Free PMC article.
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.
Aoto Y, Horinouchi T, Yamamura T, Kondo A, Nagai S, Ishiko S, Okada E, Rossanti R, Sakakibara N, Nagano C, Awano H, Nagase H, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K. Aoto Y, et al. Among authors: ishiko s. Kidney Int Rep. 2021 Oct 21;7(1):108-116. doi: 10.1016/j.ekir.2021.10.012. eCollection 2022 Jan. Kidney Int Rep. 2021. PMID: 35005319 Free PMC article.
42 results