Tsurusaki Y - Search Results

1

Kuroda Y, Murakami H, Yokoi T, Kumaki T, Enomoto Y, Tsurusaki Y, Kurosawa K. Kuroda Y, et al. Among authors: tsurusaki y. Brain Dev. 2019 Jun;41(6):538-541. doi: 10.1016/j.braindev.2019.02.007. Epub 2019 Feb 20. Brain Dev. 2019. PMID: 30795918

2

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N. Saitsu H, et al. Among authors: tsurusaki y. Brain Dev. 2012 May;34(5):364-7. doi: 10.1016/j.braindev.2011.07.004. Epub 2011 Jul 28. Brain Dev. 2012. PMID: 21802232

3

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: tsurusaki y. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

4

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H, Jinnou H, Ohki S, Yokochi K, Okanishi T, Enoki H. Nakamura K, et al. Among authors: tsurusaki y. Brain Dev. 2014 Mar;36(3):272-3. doi: 10.1016/j.braindev.2013.03.007. Epub 2013 Apr 25. Brain Dev. 2014. PMID: 23623288 No abstract available.

5

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H. Takano K, et al. Among authors: tsurusaki y. Brain Dev. 2015 Jun;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002. Epub 2014 Oct 27. Brain Dev. 2015. PMID: 25457085

6

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T. Shimada S, et al. Among authors: tsurusaki y. Brain Dev. 2015 Nov;37(10):960-6. doi: 10.1016/j.braindev.2015.03.003. Epub 2015 Apr 3. Brain Dev. 2015. PMID: 25843247

7

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K. Matsuo M, et al. Among authors: tsurusaki y. Brain Dev. 2017 Feb;39(2):177-181. doi: 10.1016/j.braindev.2016.08.008. Epub 2016 Sep 23. Brain Dev. 2017. PMID: 27670155

8

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K. Tsurusaki Y, et al. Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017. Hum Genome Var. 2017. PMID: 28611923 Free PMC article.

9

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.

Enomoto Y, Tsurusaki Y, Harada N, Aida N, Kurosawa K. Enomoto Y, et al. Among authors: tsurusaki y. Congenit Anom (Kyoto). 2018 Jul;58(4):145-146. doi: 10.1111/cga.12258. Epub 2017 Nov 16. Congenit Anom (Kyoto). 2018. PMID: 28990699 No abstract available.

10

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K. Kimura Y, et al. Among authors: tsurusaki y. Congenit Anom (Kyoto). 2018 Nov;58(6):188-190. doi: 10.1111/cga.12273. Epub 2018 Feb 13. Congenit Anom (Kyoto). 2018. PMID: 29381230 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

219 results

Search Page

Filters