Uchiyama Y - Search Results

1

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Among authors: uchiyama y. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895

2

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.

Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N. Uchiyama Y, et al. Sci Rep. 2016 Mar 9;6:22985. doi: 10.1038/srep22985. Sci Rep. 2016. PMID: 26957145 Free PMC article.

3

Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.

Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura KI, Matsumoto N. Uchiyama Y, et al. Sci Rep. 2017 Jan 12;7:39897. doi: 10.1038/srep39897. Sci Rep. 2017. PMID: 28079102 Free PMC article. No abstract available.

4

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.

Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N. Uchiyama Y, et al. Br J Haematol. 2018 Jun;181(6):843-847. doi: 10.1111/bjh.14710. Epub 2017 Apr 25. Br J Haematol. 2018. PMID: 28439885 Free article. No abstract available.

5

Detection of copy number variations in epilepsy using exome data.

Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: uchiyama y. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419

6

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.

Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M. Takeguchi R, et al. Among authors: uchiyama y. Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23. Brain Dev. 2018. PMID: 29699863

7

Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency.

Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H. Ogawa Y, et al. Among authors: uchiyama y. Int J Hematol. 2018 Oct;108(4):443-446. doi: 10.1007/s12185-018-2462-y. Epub 2018 Apr 30. Int J Hematol. 2018. PMID: 29713955

8

[Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma].

Ogawa Y, Yanagisawa K, Uchiyama Y, Matsumoto A, Inoue M, Toyama K, Miyazawa Y, Matsumoto N, Handa H. Ogawa Y, et al. Among authors: uchiyama y. Rinsho Ketsueki. 2018;59(4):383-388. doi: 10.11406/rinketsu.59.383. Rinsho Ketsueki. 2018. PMID: 29743396 Japanese.

9

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T. Uchiyama Y, et al. Clin Genet. 2018 Dec;94(6):548-553. doi: 10.1111/cge.13423. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30051457

10

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N. Miyatake S, et al. Among authors: uchiyama y. Ann Neurol. 2018 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30. Ann Neurol. 2018. PMID: 30412317

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