Mizuguchi T - Search Results

1

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

Watanabe Y, Sakai H, Nishimura A, Miyake N, Saitsu H, Mizuguchi T, Matsumoto N. Watanabe Y, et al. Among authors: mizuguchi t. Am J Med Genet A. 2008 Dec 1;146A(23):3070-4. doi: 10.1002/ajmg.a.32567. Am J Med Genet A. 2008. PMID: 19006214

2

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI. Mizuguchi T, et al. J Hum Genet. 2004;49(2):80-86. doi: 10.1007/s10038-003-0111-6. Epub 2004 Jan 15. J Hum Genet. 2004. PMID: 14727154

3

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. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.

4

Molecular genetics of Marfan syndrome.

Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Boileau C, et al. Among authors: mizuguchi t. Curr Opin Cardiol. 2005 May;20(3):194-200. doi: 10.1097/01.hco.0000162398.21972.cd. Curr Opin Cardiol. 2005. PMID: 15861007 Review.

5

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.

Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino T, Ohta T, Remco V, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N. Shimokawa O, et al. Among authors: mizuguchi t. Am J Med Genet A. 2005 Jul 1;136(1):49-51. doi: 10.1002/ajmg.a.30778. Am J Med Genet A. 2005. PMID: 15937941

6

[Genetic testing for Marfan syndrome].

Mizuguchi T, Matsumoto N. Mizuguchi T, et al. Nihon Rinsho. 2005 Dec;63 Suppl 12:427-30. Nihon Rinsho. 2005. PMID: 16416828 Review. Japanese. No abstract available.

7

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: mizuguchi 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

8

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.

Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N. Kawara H, et al. Among authors: mizuguchi t. Am J Med Genet A. 2006 Feb 15;140(4):373-7. doi: 10.1002/ajmg.a.31094. Am J Med Genet A. 2006. PMID: 16419130

9

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection.

Hamanoue H, Umezu N, Okuda M, Harada N, Ohata T, Sakai H, Mizuguchi T, Ishikawa H, Takahashi T, Miura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: mizuguchi t. J Hum Genet. 2006;51(5):477-479. doi: 10.1007/s10038-006-0388-3. Epub 2006 Mar 17. J Hum Genet. 2006. PMID: 16544049

10

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Ishikawa K, Mizusawa H, Yoshiura KI, Fukushima Y, Ikeda SI, Matsumoto N. Ohata T, et al. Among authors: mizuguchi t. J Hum Genet. 2006;51(5):461-466. doi: 10.1007/s10038-006-0385-6. Epub 2006 Apr 14. J Hum Genet. 2006. PMID: 16614795

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