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Page 1
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: suzumura h. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. J Clin Endocrinol Metab. 2020. PMID: 31544945 Review.
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: suzumura h. 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.
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Inoue T, et al. Among authors: suzumura h. Clin Epigenetics. 2020 Jun 16;12(1):86. doi: 10.1186/s13148-020-00865-x. Clin Epigenetics. 2020. PMID: 32546215 Free PMC article.
SATB2-associated syndrome in patients from Japan: Linguistic profiles.
Yamada M, Uehara T, Suzuki H, Takenouchi T, Yoshihashi H, Suzumura H, Mizuno S, Kosaki K. Yamada M, et al. Among authors: suzumura h. Am J Med Genet A. 2019 Jun;179(6):896-899. doi: 10.1002/ajmg.a.61114. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848049
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: suzumura h. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813
Skin color change due to peripherally inserted central catheter leakage.
Miyamoto M, Kuribayashi R, Suzumura H, Yoshihara S. Miyamoto M, et al. Among authors: suzumura h. Pediatr Neonatol. 2022 Nov;63(6):647-648. doi: 10.1016/j.pedneo.2022.04.005. Epub 2022 May 21. Pediatr Neonatol. 2022. PMID: 35672218 Free article. No abstract available.
134 results