Tsurusaki Y - Search Results

1

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: tsurusaki y. PLoS One. 2014 Sep 30;9(9):e108721. doi: 10.1371/journal.pone.0108721. eCollection 2014. PLoS One. 2014. PMID: 25268133 Free PMC article.

2

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.

Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Clin Genet. 2011 Aug;80(2):161-6. doi: 10.1111/j.1399-0004.2011.01721.x. Epub 2011 Jun 21. Clin Genet. 2011. PMID: 21644943

3

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: tsurusaki y. Clin Genet. 2015 May;87(5):455-60. doi: 10.1111/cge.12417. Epub 2014 May 24. Clin Genet. 2015. PMID: 24784932

4

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Clin Genet. 2013 Feb;83(2):135-44. doi: 10.1111/j.1399-0004.2012.01885.x. Epub 2012 May 1. Clin Genet. 2013. PMID: 22548404

5

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S, Matsumoto N. Tsurusaki Y, et al. Clin Genet. 2014 Jun;85(6):592-4. doi: 10.1111/cge.12215. Epub 2013 Jul 5. Clin Genet. 2014. PMID: 23826986 No abstract available.

6

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N. Fujita A, et al. Among authors: tsurusaki y. Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23. Clin Genet. 2016. PMID: 26919706

7

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N. Nakajima J, et al. Among authors: tsurusaki y. Clin Genet. 2015 Apr;87(4):356-61. doi: 10.1111/cge.12394. Epub 2014 Apr 29. Clin Genet. 2015. PMID: 24697219

8

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.

Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N. Tadaki H, et al. Among authors: tsurusaki y. Int J Immunogenet. 2011 Aug;38(4):287-93. doi: 10.1111/j.1744-313X.2011.01005.x. Epub 2011 Mar 7. Int J Immunogenet. 2011. PMID: 21382177

9

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H. Miyatake S, et al. Among authors: tsurusaki y. Clin Genet. 2015 Apr;87(4):395-7. doi: 10.1111/cge.12455. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25040701 No abstract available.

10

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: tsurusaki y. Clin Genet. 2016 Jan;89(1):115-9. doi: 10.1111/cge.12586. Epub 2015 Apr 14. Clin Genet. 2016. PMID: 25810209

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