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Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.
Kawai T, Kinoshita S, Takayama Y, Ohnishi E, Kamura H, Kojima K, Kikuchi H, Terao M, Sugawara T, Migita O, Kagami M, Isojima T, Yamaguchi Y, Wakui K, Ohashi H, Shimizu K, Mizuno S, Okamoto N, Fukushima Y, Takada F, Kosaki K, Takada S, Akutsu H, Ura K, Nakabayashi K, Hata K. Kawai T, et al. Among authors: isojima t. Genet Med Open. 2024 Mar 14;2:101838. doi: 10.1016/j.gimo.2024.101838. eCollection 2024. Genet Med Open. 2024. PMID: 39669601 Free PMC article.
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group; Backeljauw PF. Gravholt CH, et al. Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. Eur J Endocrinol. 2024. PMID: 38748847
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: isojima t. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2358-2365. doi: 10.1210/clinem/dgae098. J Clin Endocrinol Metab. 2024. PMID: 38373250
Growth in girls with Turner syndrome.
Isojima T, Yokoya S. Isojima T, et al. Front Endocrinol (Lausanne). 2023 Jan 12;13:1068128. doi: 10.3389/fendo.2022.1068128. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36714599 Free PMC article. Review.
82 results