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Page 1
Genotype-Phenotype Correlations in 30 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 wakayama h, narumi s. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2358-2365. doi: 10.1210/clinem/dgae098. J Clin Endocrinol Metab. 2024. PMID: 38373250
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
A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.
Narita C, Takubo N, Sammori M, Matsumura Y, Shimura K, Ozaki R, Haruna H, Narumi S, Ishii T, Hasegawa T, Shimizu T. Narita C, et al. Among authors: narumi s. Clin Pediatr Endocrinol. 2023;32(4):235-238. doi: 10.1297/cpe.2023-0032. Epub 2023 Sep 8. Clin Pediatr Endocrinol. 2023. PMID: 37842143 Free PMC article.
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
450 results