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Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: tanase nakao k. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
Importance of contralateral aldosterone suppression during adrenal vein sampling in the subtype evaluation of primary aldosteronism.
Umakoshi H, Tanase-Nakao K, Wada N, Ichijo T, Sone M, Inagaki N, Katabami T, Kamemura K, Matsuda Y, Fujii Y, Kai T, Fukuoka T, Sakamoto R, Ogo A, Suzuki T, Tsuiki M, Shimatsu A, Naruse M. Umakoshi H, et al. Clin Endocrinol (Oxf). 2015 Oct;83(4):462-7. doi: 10.1111/cen.12761. Epub 2015 Mar 16. Clin Endocrinol (Oxf). 2015. PMID: 25727719
Primary hyperparathyroidism due to atypical vertically long cystic adenoma.
Kawashima ST, Usui T, Ueda Y, Kobayashi MK, Tsuiki M, Tanase-Nakao K, Nanba K, Tagami T, Naruse M, Watanabe Y, Asato R, Kato S, Shimatsu A. Kawashima ST, et al. Endocrinol Diabetes Metab Case Rep. 2014;2014:140086. doi: 10.1530/EDM-14-0086. Epub 2014 Oct 1. Endocrinol Diabetes Metab Case Rep. 2014. PMID: 25379182 Free PMC article.
A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.
Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Yoshida K, et al. Among authors: tanase nakao k. Clin Pediatr Endocrinol. 2021;30(4):179-185. doi: 10.1297/cpe.30.179. Epub 2021 Oct 1. Clin Pediatr Endocrinol. 2021. PMID: 34629740 Free PMC article.
25 results