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A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. Adachi E, et al. Among authors: nakagawa r. J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577. J Clin Endocrinol Metab. 2024. PMID: 37804107
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
Saito Y, Takasawa K, Gau M, Yamauchi T, Nakagawa R, Miyakawa Y, Sutani A, Hosokawa-Tsuji A, Takishima S, Matsubara Y, Morio T, Kashimada K. Saito Y, et al. Among authors: nakagawa r. Clin Pediatr Endocrinol. 2021;30(4):155-161. doi: 10.1297/cpe.30.155. Epub 2021 Oct 1. Clin Pediatr Endocrinol. 2021. PMID: 34629737 Free PMC article.
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker EJ, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Nakagawa R, et al. Hum Mol Genet. 2022 Jul 7;31(13):2223-2235. doi: 10.1093/hmg/ddac023. Hum Mol Genet. 2022. PMID: 35134173
Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations.
Takasawa K, Nakagawa R, Takishima S, Moriyama K, Watanabe K, Kiyohara K, Hasegawa T, Shimohira M, Kashimada K, Shimizu N, Morio T. Takasawa K, et al. Among authors: nakagawa r. Brain Dev. 2018 Feb;40(2):107-115. doi: 10.1016/j.braindev.2017.07.014. Epub 2017 Aug 8. Brain Dev. 2018. PMID: 28801087
555 results