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Page 1
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. Kayashima T, et al. Among authors: kishino t. Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511. Am J Med Genet. 2002. PMID: 12124731
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: kishino t. 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.
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kishino t. Am J Med Genet A. 2006 Feb 1;140(3):291-3. doi: 10.1002/ajmg.a.31012. Am J Med Genet A. 2006. PMID: 16278908 No abstract available.
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: kishino t. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: kishino t. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044
Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.
Yamada K, Limprasert P, Ratanasukon M, Tengtrisorn S, Yingchareonpukdee J, Vasiknanonte P, Kitaoka T, Ghadami M, Niikawa N, Kishino T. Yamada K, et al. Among authors: kishino t. Am J Med Genet. 2001 Apr 15;100(1):52-5. doi: 10.1002/1096-8628(20010415)100:1<52::aid-ajmg1214>3.0.co;2-b. Am J Med Genet. 2001. PMID: 11337749
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: kishino t. Am J Med Genet. 2001 Dec 1;104(3):225-31. Am J Med Genet. 2001. PMID: 11754049
247 results