Mizuguchi T - Search Results

1

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: mizuguchi t. J Hum Genet. 2018 Apr;63(4):487-491. doi: 10.1038/s10038-017-0404-9. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410513

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 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

5

[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.

6

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

7

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

8

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

9

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

10

Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).

Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N. Hiraki Y, et al. Among authors: mizuguchi t. Am J Med Genet A. 2006 Aug 15;140(16):1773-7. doi: 10.1002/ajmg.a.31364. Am J Med Genet A. 2006. PMID: 16835918

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