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Page 1
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N. Hamanaka K, et al. Among authors: sugawara y. Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28. Eur J Hum Genet. 2019. PMID: 30487643 Free PMC article.
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI. Hamada N, et al. Among authors: sugawara y. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246. Brain. 2018. PMID: 30256902
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S. Higurashi N, et al. Among authors: sugawara y. Epilepsy Res. 2013 Sep;106(1-2):191-9. doi: 10.1016/j.eplepsyres.2013.04.005. Epub 2013 May 24. Epilepsy Res. 2013. PMID: 23712037
Aicardi-Goutières syndrome is caused by IFIH1 mutations.
Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Oda H, et al. Among authors: sugawara y. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007. Am J Hum Genet. 2014. PMID: 24995871 Free PMC article.
Parental awareness of Kawasaki disease features.
Yamazaki Y, Sugawara Y, Nakajima K, Adachi E, Hasegawa T. Yamazaki Y, et al. Among authors: sugawara y. Pediatr Int. 2023 Jan;65(1):e15416. doi: 10.1111/ped.15416. Pediatr Int. 2023. PMID: 36371640 No abstract available.
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, Nakajima K, Mizuno T, Imai K, Sugawara Y, Morio T, Kumada S, Takagi M. Kashimada A, et al. Among authors: sugawara y. Brain Dev. 2019 Feb;41(2):150-157. doi: 10.1016/j.braindev.2018.09.007. Epub 2018 Oct 6. Brain Dev. 2019. PMID: 30301590
1,819 results