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Page 1
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
Miyake N, Visser R, Kinoshita A, Yoshiura K, Niikawa N, Kondoh T, Matsumoto N, Harada N, Okamoto N, Sonoda T, Naritomi K, Kaname T, Chinen Y, Tonoki H, Kurosawa K. Miyake N, et al. Among authors: chinen y. Am J Med Genet A. 2005 May 15;135(1):103-5. doi: 10.1002/ajmg.a.30637. Am J Med Genet A. 2005. PMID: 15723327 Free article. No abstract available.
Agenesis of corpus callosum in three sibs.
Naritomi K, Chinen Y, Asato Y. Naritomi K, et al. Among authors: chinen y. Jpn J Hum Genet. 1997 Dec;42(4):539-41. doi: 10.1007/BF02767031. Jpn J Hum Genet. 1997. PMID: 9560954 No abstract available.
Two sisters with Toriello-Carey syndrome.
Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K. Chinen Y, et al. Am J Med Genet. 1999 Nov 26;87(3):262-4. doi: 10.1002/(sici)1096-8628(19991126)87:3<262::aid-ajmg13>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10564882
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: chinen y. Am J Med Genet. 2001 Dec 1;104(3):225-31. Am J Med Genet. 2001. PMID: 11754049
The Cohen syndrome: report of a case.
Naritomi K, Chinen Y. Naritomi K, et al. Among authors: chinen y. Jpn J Hum Genet. 1997 Sep;42(3):457-9. doi: 10.1007/BF02766949. Jpn J Hum Genet. 1997. PMID: 12503195
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Kaname T, et al. Among authors: chinen y. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27. Am J Hum Genet. 2007. PMID: 17847009 Free PMC article.
175 results