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Page 1
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I, Matsumoto N. Miyatake S, et al. Among authors: hamanoue h. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1187-1195. doi: 10.1136/jnnp-2024-333541. J Neurol Neurosurg Psychiatry. 2024. PMID: 38816190
A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.
Yotsumoto J, Sekizawa A, Suzumori N, Yamada T, Samura O, Nishiyama M, Miura K, Sawai H, Murotsuki J, Kitagawa M, Kamei Y, Masuzaki H, Hirahara F, Endo T, Fukushima A, Namba A, Osada H, Kasai Y, Watanabe A, Katagiri Y, Takeshita N, Ogawa M, Okai T, Izumi S, Hamanoue H, Inuzuka M, Haino K, Hamajima N, Nishizawa H, Okamoto Y, Nakamura H, Kanegawa T, Yoshimatsu J, Tairaku S, Naruse K, Masuyama H, Hyodo M, Kaji T, Maeda K, Matsubara K, Ogawa M, Yoshizato T, Ohba T, Kawano Y, Sago H; Japan NIPT Consortium. Yotsumoto J, et al. Among authors: hamanoue h. J Hum Genet. 2016 Dec;61(12):995-1001. doi: 10.1038/jhg.2016.96. Epub 2016 Sep 8. J Hum Genet. 2016. PMID: 27604555
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N. Nishimura-Tadaki A, et al. Among authors: hamanoue h. J Hum Genet. 2011 Feb;56(2):156-60. doi: 10.1038/jhg.2010.155. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150920
SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Among authors: hamanoue h. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.
39 results