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841 results

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Page 1
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: kinoshita a. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Among authors: kinoshita a. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.
Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura K, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T. Yamasaki Y, et al. Among authors: kinoshita a. Hum Mol Genet. 2005 Sep 1;14(17):2511-20. doi: 10.1093/hmg/ddi255. Epub 2005 Jul 21. Hum Mol Genet. 2005. PMID: 16037066
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura KI. Ichikawa E, et al. Among authors: kinoshita a. J Hum Genet. 2006;51(1):38-46. doi: 10.1007/s10038-005-0319-8. Epub 2005 Oct 25. J Hum Genet. 2006. PMID: 16247549
Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10.
Yamasaki-Ishizaki Y, Kayashima T, Mapendano CK, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T. Yamasaki-Ishizaki Y, et al. Among authors: kinoshita a. Mol Cell Biol. 2007 Jan;27(2):732-42. doi: 10.1128/MCB.01329-06. Epub 2006 Nov 13. Mol Cell Biol. 2007. PMID: 17101788 Free PMC article.
841 results