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Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S. Iwayama H, et al. Among authors: fujisawa y. Thyroid. 2021 Sep;31(9):1316-1321. doi: 10.1089/thy.2020.0696. Epub 2021 Jul 2. Thyroid. 2021. PMID: 34049438 Free PMC article.
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Yamoto K, et al. Among authors: fujisawa y. Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22. Eur J Hum Genet. 2019. PMID: 31332306 Free PMC article.
Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young.
Hosokawa Y, Higuchi S, Kawakita R, Hata I, Urakami T, Isojima T, Takasawa K, Matsubara Y, Mizuno H, Maruo Y, Matsui K, Aizu K, Jinno K, Araki S, Fujisawa Y, Osugi K, Tono C, Takeshima Y, Yorifuji T. Hosokawa Y, et al. Among authors: fujisawa y. J Diabetes Investig. 2019 Nov;10(6):1586-1589. doi: 10.1111/jdi.13046. Epub 2019 Apr 23. J Diabetes Investig. 2019. PMID: 30897270 Free PMC article.
IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. Masunaga Y, et al. Among authors: fujisawa y. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. J Clin Endocrinol Metab. 2020. PMID: 31544945 Review.
ACAN biallelic variants in a girl with severe idiopathic short stature.
Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T. Masunaga Y, et al. Among authors: fujisawa y. J Hum Genet. 2022 Aug;67(8):481-486. doi: 10.1038/s10038-022-01030-3. Epub 2022 Mar 22. J Hum Genet. 2022. PMID: 35314765
886 results