Ieda D - Search Results

1

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.

Hiraide T, Hattori A, Ieda D, Hori I, Saitoh S, Nakashima M, Saitsu H. Hiraide T, et al. Among authors: ieda d. Epilepsia Open. 2019 May 24;4(3):476-481. doi: 10.1002/epi4.12339. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440728 Free PMC article.

2

Molecular genetic analysis of 30 families with Joubert syndrome.

Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: ieda d. Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26. Clin Genet. 2016. PMID: 27434533

3

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Kato K, et al. Among authors: ieda d. J Hum Genet. 2017 Sep;62(9):861-863. doi: 10.1038/jhg.2017.53. Epub 2017 May 18. J Hum Genet. 2017. PMID: 28515470

4

CTCF deletion syndrome: clinical features and epigenetic delineation.

Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S. Hori I, et al. Among authors: ieda d. J Med Genet. 2017 Dec;54(12):836-842. doi: 10.1136/jmedgenet-2017-104854. Epub 2017 Aug 28. J Med Genet. 2017. PMID: 28848059

5

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.

Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S. Nakamura Y, et al. Among authors: ieda d. Brain Dev. 2018 Feb;40(2):134-139. doi: 10.1016/j.braindev.2017.08.003. Epub 2017 Oct 12. Brain Dev. 2018. PMID: 28893434

6

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. Nakamura Y, et al. Among authors: ieda d. Brain Dev. 2018 Mar;40(3):222-225. doi: 10.1016/j.braindev.2017.09.010. Epub 2017 Oct 21. Brain Dev. 2018. PMID: 29066118

7

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S. Ieda D, et al. Brain Dev. 2018 Jun;40(6):489-492. doi: 10.1016/j.braindev.2018.01.010. Epub 2018 Feb 12. Brain Dev. 2018. PMID: 29449050

8

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

Kato K, Mizuno S, Inaba M, Fukumura S, Kurahashi N, Maruyama K, Ieda D, Ohashi K, Hori I, Negishi Y, Hattori A, Saitoh S. Kato K, et al. Among authors: ieda d. Brain Dev. 2018 Sep;40(8):678-684. doi: 10.1016/j.braindev.2018.04.008. Epub 2018 May 8. Brain Dev. 2018. PMID: 29752200

9

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.

Ieda D, Hori I, Nakamura Y, Ohashi K, Negishi Y, Hattori A, Arisaka A, Hasegawa S, Saitoh S. Ieda D, et al. Hum Genome Var. 2019 Mar 25;6:15. doi: 10.1038/s41439-019-0046-x. eCollection 2019. Hum Genome Var. 2019. PMID: 30937176 Free PMC article.

10

Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.

Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Kato K, et al. Among authors: ieda d. J Hum Genet. 2019 Jul;64(7):701-702. doi: 10.1038/s10038-019-0610-8. J Hum Genet. 2019. PMID: 31028281

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