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Chromosome 1q deletion and congenital glaucoma.
Okamoto N, Hatsukawa Y, Shiraishi J, Harada N, Matsumoto N. Okamoto N, et al. Among authors: hatsukawa y. Pediatr Int. 2005 Aug;47(4):477-9. doi: 10.1111/j.1442-200x.2005.02097.x. Pediatr Int. 2005. PMID: 16118899 No abstract available.
Ophthalmic features of CHARGE syndrome with CHD7 mutations.
Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K. Nishina S, et al. Among authors: hatsukawa y. Am J Med Genet A. 2012 Mar;158A(3):514-8. doi: 10.1002/ajmg.a.34400. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302456
Siblings with optic neuropathy and RTN4IP1 mutation.
Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: hatsukawa y. J Hum Genet. 2017 Oct;62(10):927-929. doi: 10.1038/jhg.2017.68. Epub 2017 Jun 22. J Hum Genet. 2017. PMID: 28638143
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: hatsukawa y. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.
47 results