Kosaki K - Search Results

1

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.

Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kosaki k. Neurol Sci. 2021 Jul;42(7):2975-2978. doi: 10.1007/s10072-021-05152-y. Epub 2021 Mar 11. Neurol Sci. 2021. PMID: 33704598

2

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

3

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: kosaki r, kosaki k. J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044. J Pediatr. 2006. PMID: 16615981

4

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: kosaki r, kosaki k. Genet Test. 2006 Winter;10(4):265-71. doi: 10.1089/gte.2006.10.265. Genet Test. 2006. PMID: 17253932

5

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: kosaki r, kosaki k. 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

6

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: kosaki r, kosaki k. Genet Test. 2007 Fall;11(3):216-27. doi: 10.1089/gte.2006.0519. Genet Test. 2007. PMID: 17949281

7

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.

Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N. Sasaki K, et al. Among authors: kosaki k. Clin Genet. 2011 Nov;80(5):478-83. doi: 10.1111/j.1399-0004.2010.01599.x. Epub 2010 Dec 20. Clin Genet. 2011. PMID: 21166787

8

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K. Nishina S, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2012 Mar;158A(3):514-8. doi: 10.1002/ajmg.a.34400. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302456

9

Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.

Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: kosaki k. Am J Med Genet A. 2012 Apr;158A(4):812-5. doi: 10.1002/ajmg.a.35245. Epub 2012 Feb 21. Am J Med Genet A. 2012. PMID: 22354677

10

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.

Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R. Yagihashi T, et al. Among authors: kosaki r, kosaki k. Congenit Anom (Kyoto). 2012 Jun;52(2):82-6. doi: 10.1111/j.1741-4520.2012.00356.x. Congenit Anom (Kyoto). 2012. PMID: 22639993

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