Takahashi Y - Search Results

1

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.

Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S. Nakamura Y, et al. Among authors: takahashi y. PLoS One. 2019 Aug 20;14(8):e0221482. doi: 10.1371/journal.pone.0221482. eCollection 2019. PLoS One. 2019. PMID: 31430354 Free PMC article.

2

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.

Fujita A, Ochi N, Fujimaki H, Muramatsu H, Takahashi Y, Natsume J, Kojima S, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N. Fujita A, et al. Among authors: takahashi y. Am J Med Genet A. 2014 Apr;164A(4):998-1002. doi: 10.1002/ajmg.a.36369. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459086

3

Clinical and neuroimaging findings in children with posterior reversible encephalopathy syndrome.

Yamamoto H, Natsume J, Kidokoro H, Ishihara N, Suzuki M, Tsuji T, Kubota T, Yamada A, Ozeki M, Kato Z, Kawamura Y, Yoshikawa T, Okumura A, Ando N, Saitoh S, Takahashi Y, Watanabe K, Kojima S. Yamamoto H, et al. Among authors: takahashi y. Eur J Paediatr Neurol. 2015 Nov;19(6):672-8. doi: 10.1016/j.ejpn.2015.07.005. Epub 2015 Jul 22. Eur J Paediatr Neurol. 2015. PMID: 26232050

4

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.

Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S. Kato K, et al. Among authors: takahashi y. J Med Genet. 2019 Jun;56(6):388-395. doi: 10.1136/jmedgenet-2018-105487. Epub 2018 Dec 20. J Med Genet. 2019. PMID: 30573562

5

Delayed recognition of childhood arterial ischemic stroke.

Hori I, Tsuji T, Miyake M, Ueda K, Kataoka E, Suzuki M, Kobayashi S, Kurahashi H, Takahashi Y, Okumura A, Yoshikawa T, Saitoh S, Natsume J. Hori I, et al. Among authors: takahashi y. Pediatr Int. 2019 Sep;61(9):895-903. doi: 10.1111/ped.13966. Pediatr Int. 2019. PMID: 31295764

6

A novel CUL4B splice site variant in a young male exhibiting less pronounced features.

Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S. Nakamura Y, et al. Among authors: takahashi y. Hum Genome Var. 2019 Sep 4;6:43. doi: 10.1038/s41439-019-0074-6. eCollection 2019. Hum Genome Var. 2019. PMID: 31645981 Free PMC article.

7

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.

Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S. Kato K, et al. Among authors: takahashi y. J Med Genet. 2020 Apr;57(4):245-253. doi: 10.1136/jmedgenet-2019-106213. Epub 2019 Nov 11. J Med Genet. 2020. PMID: 31712251

8

Respiratory illness and acute flaccid myelitis in the Tokai district in 2018.

Okumura A, Numoto S, Iwayama H, Kurahashi H, Natsume J, Saitoh S, Yoshikawa T, Fukao T, Hirayama M, Takahashi Y. Okumura A, et al. Among authors: takahashi y. Pediatr Int. 2020 Mar;62(3):337-340. doi: 10.1111/ped.14128. Pediatr Int. 2020. PMID: 31886594

9

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum.

Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, Muramatsu H, Okuno Y, Hattori A, Kaname T, Takahashi Y, Saitoh S. Yamaguchi N, et al. Among authors: takahashi y. Brain Dev. 2020 Mar;42(3):298-301. doi: 10.1016/j.braindev.2019.12.003. Epub 2019 Dec 31. Brain Dev. 2020. PMID: 31899079

10

Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect.

Yamamoto H, Hayano S, Okuno Y, Onoda A, Kato K, Nagai N, Fukasawa Y, Saitoh S, Takahashi Y, Kato T. Yamamoto H, et al. Among authors: takahashi y. Int J Cardiol. 2021 Mar 1;326:81-87. doi: 10.1016/j.ijcard.2020.10.032. Epub 2020 Oct 17. Int J Cardiol. 2021. PMID: 33075386

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

12,487 results

Search Page

Filters