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107 results

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Page 1
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.
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K. Kamiyoshi N, et al. Among authors: ninchoji t. Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-1449. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8. Clin J Am Soc Nephrol. 2016. PMID: 27281700 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
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Yamamura T, Horinouchi T, Nagano C, Omori T, Sakakibara N, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Takeda H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Ninchoji T, Kaito H, Morisada N, Iijima K, Nozu K. Yamamura T, et al. Among authors: ninchoji t. Kidney Int. 2020 Dec;98(6):1605-1614. doi: 10.1016/j.kint.2020.06.038. Epub 2020 Jul 24. Kidney Int. 2020. PMID: 32712167 Free article.
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.
Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, Matsumura C, Takagi N, Maekawa K, Taniguchi-Ikeda M, Iijima K. Fu XJ, et al. Among authors: ninchoji t. Eur J Hum Genet. 2016 Mar;24(3):387-91. doi: 10.1038/ejhg.2015.113. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014433 Free PMC article.
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: ninchoji t. J Hum Genet. 2017 Jul;62(7):733-735. doi: 10.1038/jhg.2017.28. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275241
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
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.
Yamamura T, Nozu K, Fu XJ, Nozu Y, Ye MJ, Shono A, Yamanouchi S, Minamikawa S, Morisada N, Nakanishi K, Shima Y, Yoshikawa N, Ninchoji T, Morioka I, Kaito H, Iijima K. Yamamura T, et al. Among authors: ninchoji t. Kidney Int Rep. 2017 May 4;2(5):850-855. doi: 10.1016/j.ekir.2017.04.011. eCollection 2017 Sep. Kidney Int Rep. 2017. PMID: 29270492 Free PMC article.
107 results