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Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.
Yamaguchi T, Yamada K, Nagai S, Nishikubo T, Koitabashi N, Minami-Hori M, Matsushima M, Shibata Y, Ishiguro H, Sanai H, Fujikawa T, Takiguchi Y, Matsumoto KI, Kosho T. Yamaguchi T, et al. Among authors: kosho t. Front Genet. 2023 Aug 30;14:1234804. doi: 10.3389/fgene.2023.1234804. eCollection 2023. Front Genet. 2023. PMID: 37712068 Free PMC article.
Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.
Yamaguchi T, Hayashi S, Nagai S, Uchiyama A, Motegi SI, Fujikawa T, Takiguchi Y, Kosho T. Yamaguchi T, et al. Among authors: kosho t. Front Genet. 2023 May 5;14:1102101. doi: 10.3389/fgene.2023.1102101. eCollection 2023. Front Genet. 2023. PMID: 37214418 Free PMC article.
Editorial: Ehlers-Danlos syndrome: from bedside to bench.
Kosho T, Hayashi S, Matsumoto KI, Syx D, Kaur A. Kosho T, et al. Front Genet. 2024 Apr 26;15:1399386. doi: 10.3389/fgene.2024.1399386. eCollection 2024. Front Genet. 2024. PMID: 38737124 Free PMC article. No abstract available.
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
Nakamura K, Mukai S, Takezawa Y, Natori Y, Miyazaki A, Ide Y, Takebuchi M, Nanato K, Katoh M, Suzuki H, Sakyu A, Kojima T, Kise E, Hanafusa H, Kosho T, Kuwahara K, Sekijima Y. Nakamura K, et al. Among authors: kosho t. Mol Genet Metab Rep. 2023 Jun 7;36:100983. doi: 10.1016/j.ymgmr.2023.100983. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37323223 Free PMC article.
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T. Iida T, et al. Among authors: kosho t. Front Genet. 2024 Mar 27;15:1383176. doi: 10.3389/fgene.2024.1383176. eCollection 2024. Front Genet. 2024. PMID: 38601074 Free PMC article.
200 results