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Page 1
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.
Kobayashi S, Uemura H, Kohda T, Nagai T, Chinen Y, Naritomi K, Kinoshita EI, Ohashi H, Imaizumi K, Tsukahara M, Sugio Y, Tonoki H, Kishino T, Tanaka T, Yamada M, Tsutsumi O, Niikawa N, Kaneko-Ishino T, Ishino F. Kobayashi S, et al. Among authors: tsukahara m. Am J Med Genet. 2001 Dec 1;104(3):225-31. Am J Med Genet. 2001. PMID: 11754049
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K. Nagai T, et al. Among authors: tsukahara m. J Med Genet. 2003 Apr;40(4):285-9. doi: 10.1136/jmg.40.4.285. J Med Genet. 2003. PMID: 12676901 Free PMC article. No abstract available.
Haploinsufficiency of NSD1 causes Sotos syndrome.
Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: tsukahara m. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: tsukahara m. Am J Hum Genet. 2003 May;72(5):1331-7. doi: 10.1086/375166. Epub 2003 Apr 9. Am J Hum Genet. 2003. PMID: 12687502 Free PMC article.
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease.
Sugio Y, Sugio Y, Kuwano A, Miyoshi O, Yamada K, Niikawa N, Tsukahara M. Sugio Y, et al. Among authors: tsukahara m. Am J Med Genet. 1998 Sep 23;79(3):191-4. doi: 10.1002/(sici)1096-8628(19980923)79:3<191::aid-ajmg7>3.0.co;2-q. Am J Med Genet. 1998. PMID: 9788559
268 results