Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

70 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: hori i. 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
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Negishi Y, Miya F, Hattori A, Mizuno K, Hori I, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Negishi Y, et al. Among authors: hori i. Hum Genome Var. 2015 Feb 26;2:15007. doi: 10.1038/hgv.2015.7. eCollection 2015. Hum Genome Var. 2015. PMID: 27081522 Free PMC article.
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S. Negishi Y, et al. Among authors: hori i. BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6. BMC Med Genet. 2017. PMID: 28086757 Free PMC article.
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Hori I, et al. Sci Rep. 2017 Jun 14;7(1):3552. doi: 10.1038/s41598-017-02840-8. Sci Rep. 2017. PMID: 28615637 Free PMC article.
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. 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
70 results