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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: imaizumi k. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.
DNA deletion and its parental origin in Angelman syndrome patients.
Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N. Hamabe J, et al. Among authors: imaizumi k. Am J Med Genet. 1991 Oct 1;41(1):64-8. doi: 10.1002/ajmg.1320410117. Am J Med Genet. 1991. PMID: 1683160
Molecular and clinical study of 61 Angelman syndrome patients.
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, et al. Saitoh S, et al. Among authors: imaizumi k. Am J Med Genet. 1994 Aug 15;52(2):158-63. doi: 10.1002/ajmg.1320520207. Am J Med Genet. 1994. PMID: 7802001 Review.
Chromosome aberrations in Rubinstein-Taybi syndrome.
Imaizumi K, Kurosawa K, Masuno M, Tsukahara M, Kuroki Y. Imaizumi K, et al. Clin Genet. 1993 Apr;43(4):215-6. doi: 10.1111/j.1399-0004.1993.tb04468.x. Clin Genet. 1993. PMID: 8330456 No abstract available.
Pilomatrixomas in Rubinstein-Taybi syndrome.
Masuno M, Imaizumi K, Ishii T, Kuroki Y, Baba N, Tanaka Y. Masuno M, et al. Among authors: imaizumi k. Am J Med Genet. 1998 Apr 28;77(1):81-2. doi: 10.1002/(sici)1096-8628(19980428)77:1<81::aid-ajmg19>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9557902 No abstract available.
Premature thelarche in Rubinstein-Taybi syndrome.
Kurosawa K, Masuno M, Imaizumi K, Matsuo M, Kuroki Y, Tachibana K. Kurosawa K, et al. Among authors: imaizumi k. Am J Med Genet. 2002 Apr 15;109(1):72-3. doi: 10.1002/ajmg.10297. Am J Med Genet. 2002. PMID: 11932997 Review. No abstract available.
985 results