Imaizumi K - Search Results

1

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

Nakamura A, Matsuura S, Tauchi H, Hanada R, Ohashi H, Hasegawa T, Honda K, Masuno M, Imaizumi K, Sugita K, Ide T, Komatsu K. Nakamura A, et al. Among authors: imaizumi k. J Hum Genet. 1999;44(1):48-51. doi: 10.1007/s100380050106. J Hum Genet. 1999. PMID: 9929978

2

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N. Fukuda S, et al. Among authors: imaizumi k. Am J Hum Genet. 1996 Dec;59(6):1210-20. Am J Hum Genet. 1996. PMID: 8940266 Free PMC article.

3

Male with type II autosomal recessive cutis laxa.

Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y. Imaizumi K, et al. Clin Genet. 1994 Jan;45(1):40-3. doi: 10.1111/j.1399-0004.1994.tb03988.x. Clin Genet. 1994. PMID: 8149651

4

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

Kubota T, Nonoyama S, Tonoki H, Masuno M, Imaizumi K, Kojima M, Wakui K, Shimadzu M, Fukushima Y. Kubota T, et al. Among authors: imaizumi k. Hum Genet. 1999 Jan;104(1):49-55. doi: 10.1007/s004390050909. Hum Genet. 1999. PMID: 10071192

5

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene.

Ikegawa S, Masuno M, Kumano Y, Okawa A, Isomura M, Koyama K, Okui K, Makita Y, Sasaki M, Kohdera U, Okuda M, Koyama H, Ohashi H, Tajiri H, Imaizumi K, Nakamura Y. Ikegawa S, et al. Among authors: imaizumi k. Clin Genet. 1999 Jun;55(6):466-72. doi: 10.1034/j.1399-0004.1999.550612.x. Clin Genet. 1999. PMID: 10450865

6

Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature.

Imaizumi K, Ishii T, Kimura J, Masuno M, Kuroki Y. Imaizumi K, et al. Am J Med Genet. 1999 Nov 19;87(2):180-2. doi: 10.1002/(sici)1096-8628(19991119)87:2<180::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1999. PMID: 10533033 Review.

7

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.

Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T. Fukuda S, et al. Among authors: imaizumi k. Hum Mutat. 1996;7(2):123-34. doi: 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D. Hum Mutat. 1996. PMID: 8829629

8

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: imaizumi k. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389

9

Autosomal dominant inheritance in Setleis syndrome.

Masuno M, Imaizumi K, Makita Y, Nakamura M, Kuroki Y. Masuno M, et al. Among authors: imaizumi k. Am J Med Genet. 1995 May 22;57(1):57-60. doi: 10.1002/ajmg.1320570113. Am J Med Genet. 1995. PMID: 7645599

10

Epidemiology of limb-body wall complex in Japan.

Kurosawa K, Imaizumi K, Masuno M, Kuroki Y. Kurosawa K, et al. Among authors: imaizumi k. Am J Med Genet. 1994 Jun 1;51(2):143-6. doi: 10.1002/ajmg.1320510212. Am J Med Genet. 1994. PMID: 8092190

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