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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: narumi s. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K. Sugisawa C, et al. Among authors: narumi s. Thyroid. 2023 May;33(5):556-565. doi: 10.1089/thy.2022.0481. Epub 2023 Apr 21. Thyroid. 2023. PMID: 36792927
Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, Shimura K, Aoyama K, Mizuno H, Hotsubo T, Takahashi C, Isojima T, Kina Y, Takakuwa S, Hamada J, Sawaki M, Shigehara K, Sugimoto S, Etani Y, Narumi-Wakayama H, Mine Y, Hasegawa T, Hishinuma A, Narumi S. Tanase-Nakao K, et al. Among authors: narumi s. J Clin Endocrinol Metab. 2024 Feb 19:dgae098. doi: 10.1210/clinem/dgae098. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38373250
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T. Amano N, et al. Among authors: narumi s. J Clin Endocrinol Metab. 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. J Clin Endocrinol Metab. 2024. PMID: 37878959
433 results