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Page 1
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. 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. Kidney360. 2021 Oct 13;3(3):497-505. doi: 10.34067/KID.0005252021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582193 Free PMC article.
COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome.
Kitakado H, Horinouchi T, Aoyama S, Kimura Y, Inoki Y, Tanaka Y, Ueda C, Aoto Y, Sakakibara N, Nagano C, Yamamura T, Ishimori S, Rossanti R, Matsuo M, Nozu K. Kitakado H, et al. Among authors: rossanti r. Kidney Int Rep. 2024 Nov 16;10(2):516-521. doi: 10.1016/j.ekir.2024.11.016. eCollection 2025 Feb. Kidney Int Rep. 2024. PMID: 39990911 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: rossanti r. Kidney360. 2022 May 24;3(8):1384-1393. doi: 10.34067/KID.0000812022. eCollection 2022 Aug 25. Kidney360. 2022. PMID: 36176665 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: rossanti r. 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.
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: rossanti r. 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.
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: rossanti r. Nephrol Dial Transplant. 2022 Jan 25;37(2):262-270. doi: 10.1093/ndt/gfab274. Nephrol Dial Transplant. 2022. PMID: 34586410
34 results