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Page 1
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: ochi n. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
Co-occurrence of 22q11 deletion syndrome and HDR syndrome.
Fukai R, Ochi N, Murakami A, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N. Fukai R, et al. Among authors: ochi n. Am J Med Genet A. 2013 Oct;161A(10):2576-81. doi: 10.1002/ajmg.a.36083. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918631
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Sugimoto T, Inagaki H, Mariya T, Kawamura R, Taniguchi-Ikeda M, Mizuno S, Muramatsu Y, Tsuge I, Ohashi H, Saito N, Hasegawa Y, Ochi N, Yamaguchi M, Murotsuki J, Kurahashi H. Sugimoto T, et al. Among authors: ochi n. Hum Genet. 2023 Oct;142(10):1451-1460. doi: 10.1007/s00439-023-02591-9. Epub 2023 Aug 24. Hum Genet. 2023. PMID: 37615740 Free PMC article.
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y. Tanizawa Y, et al. Among authors: ochi n. Diabetes. 2000 Jan;49(1):114-20. doi: 10.2337/diabetes.49.1.114. Diabetes. 2000. PMID: 10615958
290 results