Takahashi Y - Search Results

1

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium; Mizusawa H. Takahashi Y, et al. J Hum Genet. 2022 Sep;67(9):505-513. doi: 10.1038/s10038-022-01025-0. Epub 2022 Mar 23. J Hum Genet. 2022. PMID: 35318459 Free PMC article.

2

ACTN1 mutations cause congenital macrothrombocytopenia.

Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S. Kunishima S, et al. Among authors: takahashi y. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434115 Free PMC article.

3

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, Kon A, Sanada M, Chiba K, Tanaka H, Makishima H, Wang X, Xu Y, Doisaki S, Hama A, Nakanishi K, Takahashi Y, Yoshida N, Maciejewski JP, Miyano S, Ogawa S, Kojima S. Sakaguchi H, et al. Among authors: takahashi m, takahashi y. Nat Genet. 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698. Epub 2013 Jul 7. Nat Genet. 2013. PMID: 23832011

4

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

5

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Takahashi Y, Kanno H, Yamaguchi H, Ohga S, Manabe A, Harigae H, Kunishima S, Ishii E, Kobayashi M, Koike K, Watanabe K, Ito E, Takata M, Yabe M, Ogawa S, Miyano S, Kojima S. Muramatsu H, et al. Among authors: takahashi y. Genet Med. 2017 Jul;19(7):796-802. doi: 10.1038/gim.2016.197. Epub 2017 Jan 19. Genet Med. 2017. PMID: 28102861 Free article.

6

[Allogeneic hematopoietic stem cell transplantation using ATG: prophylaxis and treatment].

Nishio N, Takahashi Y, Kojima S. Nishio N, et al. Among authors: takahashi y. Rinsho Ketsueki. 2017;58(10):2104-2110. doi: 10.11406/rinketsu.58.2104. Rinsho Ketsueki. 2017. PMID: 28978855 Japanese.

7

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

Hayano S, Okuno Y, Tsutsumi M, Inagaki H, Fukasawa Y, Kurahashi H, Kojima S, Takahashi Y, Kato T. Hayano S, et al. Among authors: takahashi y. Int J Cardiol. 2019 Jan 1;274:290-295. doi: 10.1016/j.ijcard.2018.09.032. Epub 2018 Sep 13. Int J Cardiol. 2019. PMID: 30228022

8

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

9

Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295].

Hayano S, Okuno Y, Tsutsumi M, Inagaki H, Fukasawa Y, Kurahashi H, Kojima S, Takahashi Y, Kato T. Hayano S, et al. Among authors: takahashi y. Int J Cardiol. 2019 Oct 1;292:283. doi: 10.1016/j.ijcard.2019.06.020. Epub 2019 Jun 27. Int J Cardiol. 2019. PMID: 31256992 No abstract available.

10

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.

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