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Year Number of Results
2016 1
2018 8
2019 9
2020 17
2021 12
2022 13
2023 7
2024 3

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57 results

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Page 1
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.
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: sakakibara n. 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: sakakibara n. 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.
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
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: sakakibara n. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 Free PMC article.
Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease.
Okada E, Morisada N, Horinouchi T, Fujii H, Tsuji T, Miura M, Katori H, Kitagawa M, Morozumi K, Toriyama T, Nakamura Y, Nishikomori R, Nagai S, Kondo A, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Nagano C, Yamamura T, Ishimori S, Usui J, Yamagata K, Iijima K, Imasawa T, Nozu K. Okada E, et al. Among authors: sakakibara n. Kidney Int Rep. 2022 Jan 4;7(4):857-866. doi: 10.1016/j.ekir.2021.12.037. eCollection 2022 Apr. Kidney Int Rep. 2022. PMID: 35497811 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. 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: sakakibara n. 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: sakakibara n. Kidney360. 2021 Oct 13;3(3):497-505. doi: 10.34067/KID.0005252021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582193 Free PMC article.
57 results