Makita Y - Search Results

1

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J. Hayashi S, et al. Among authors: makita y. Am J Med Genet A. 2008 Aug 15;146A(16):2145-51. doi: 10.1002/ajmg.a.32433. Am J Med Genet A. 2008. PMID: 18629876

2

Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

Ohmori H, Makita Y, Funamizu M, Hirooka K, Hosoi T, Orimo H, Suzuki T, Ikari K, Nakajima T, Inoue I, Hata A. Ohmori H, et al. Among authors: makita y. J Hum Genet. 2002;47(8):400-6. doi: 10.1007/s100380200058. J Hum Genet. 2002. PMID: 12181640

3

Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene.

Ohmori H, Makita Y, Funamizu M, Chiba S, Ohtani K, Suzuki Y, Wakamiya N, Hata A. Ohmori H, et al. Among authors: makita y. J Hum Genet. 2003;48(2):82-5. doi: 10.1007/s100380300011. J Hum Genet. 2003. PMID: 12601552

4

Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy.

Ohmori H, Ando Y, Makita Y, Onouchi Y, Nakajima T, Saraiva MJ, Terazaki H, Suhr O, Sobue G, Nakamura M, Yamaizumi M, Munar-Ques M, Inoue I, Uchino M, Hata A. Ohmori H, et al. Among authors: makita y. J Med Genet. 2004 Apr;41(4):e51. doi: 10.1136/jmg.2003.014803. J Med Genet. 2004. PMID: 15060127 Free PMC article. No abstract available.

5

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K. Udaka T, et al. Among authors: makita y. Congenit Anom (Kyoto). 2005 Dec;45(4):125-31. doi: 10.1111/j.1741-4520.2005.00081.x. Congenit Anom (Kyoto). 2005. PMID: 16359492

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: makita y. 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

Spine and rib abnormalities and stature in spondylocostal dysostosis.

Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S. Takikawa K, et al. Among authors: makita y. Spine (Phila Pa 1976). 2006 Apr 1;31(7):E192-7. doi: 10.1097/01.brs.0000208166.61618.8f. Spine (Phila Pa 1976). 2006. PMID: 16582839

8

Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension.

Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N, Hirawa N, Umemura S, Miki T, Soma M. Nakayama T, et al. Among authors: makita y. Hypertension. 2006 Sep;48(3):512-8. doi: 10.1161/01.HYP.0000233877.84343.d7. Epub 2006 Jul 24. Hypertension. 2006. PMID: 16864747

9

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, Kosaki R, Okuyama T, Imoto I, Mizutani S, Inazawa J. Hayashi S, et al. Among authors: makita y. J Hum Genet. 2007;52(5):397-405. doi: 10.1007/s10038-007-0127-4. Epub 2007 Apr 4. J Hum Genet. 2007. PMID: 17406783

10

Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.

Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J. Hayashi S, et al. Among authors: makita y. Am J Med Genet A. 2007 Jun 1;143A(11):1191-7. doi: 10.1002/ajmg.a.31737. Am J Med Genet A. 2007. PMID: 17497725

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