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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.
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.
Progressive hip joint subluxation in Saul-Wilson syndrome.
Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T. Chinen Y, et al. Am J Med Genet A. 2015 Nov;167A(11):2834-8. doi: 10.1002/ajmg.a.37278. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239279
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. Uehara DT, et al. Among authors: chinen y. J Hum Genet. 2016 Apr;61(4):335-43. doi: 10.1038/jhg.2015.154. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740234
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Yonamine T, Kaname T, Chinen Y, Tamashiro K, Kosuge N, Saito S. Yonamine T, et al. Among authors: chinen y. Urol Case Rep. 2020 Feb 26;30:101141. doi: 10.1016/j.eucr.2020.101141. eCollection 2020 May. Urol Case Rep. 2020. PMID: 32154112 Free PMC article.
174 results