Okamoto N - Search Results

1

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.

Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kosaki K, Kanemura Y, Tsunoda T. Miya F, et al. Among authors: okamoto n. Sci Rep. 2015 Mar 19;5:9331. doi: 10.1038/srep09331. Sci Rep. 2015. PMID: 25786579 Free PMC article.

2

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M. Okamoto N, et al. J Hum Genet. 2004;49(6):334-337. doi: 10.1007/s10038-004-0153-4. Epub 2004 May 18. J Hum Genet. 2004. PMID: 15148591

3

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: okamoto n. Congenit Anom (Kyoto). 2005 Dec;45(4):125-31. doi: 10.1111/j.1741-4520.2005.00081.x. Congenit Anom (Kyoto). 2005. PMID: 16359492

4

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Aramaki M, et al. Among authors: okamoto n. J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044. J Pediatr. 2006. PMID: 16615981

5

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: okamoto n. Genet Test. 2006 Winter;10(4):265-71. doi: 10.1089/gte.2006.10.265. Genet Test. 2006. PMID: 17253932

6

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.

Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M. Kanemura Y, et al. Among authors: okamoto n. J Neurosurg. 2006 Nov;105(5 Suppl):403-12. doi: 10.3171/ped.2006.105.5.403. J Neurosurg. 2006. PMID: 17328266

7

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome.

Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: okamoto n. Am J Med Genet A. 2007 Apr 1;143A(7):721-6. doi: 10.1002/ajmg.a.31441. Am J Med Genet A. 2007. PMID: 17334995

8

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K. Samejima H, et al. Among authors: okamoto n. Genet Test. 2007 Fall;11(3):216-27. doi: 10.1089/gte.2006.0519. Genet Test. 2007. PMID: 17949281

9

Two new cases of pure 1q terminal deletion presenting with brain malformations.

Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: okamoto n. Am J Med Genet A. 2008 May 15;146A(10):1241-7. doi: 10.1002/ajmg.a.32275. Am J Med Genet A. 2008. PMID: 18384145

10

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: okamoto n. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044

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