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

61 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Sugimoto T, Inagaki H, Mariya T, Kawamura R, Taniguchi-Ikeda M, Mizuno S, Muramatsu Y, Tsuge I, Ohashi H, Saito N, Hasegawa Y, Ochi N, Yamaguchi M, Murotsuki J, Kurahashi H. Sugimoto T, et al. Among authors: taniguchi ikeda m. Hum Genet. 2023 Oct;142(10):1451-1460. doi: 10.1007/s00439-023-02591-9. Epub 2023 Aug 24. Hum Genet. 2023. PMID: 37615740 Free PMC article.
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M. Kawamura R, et al. Among authors: taniguchi ikeda m. J Hum Genet. 2020 Aug;65(8):705-709. doi: 10.1038/s10038-020-0748-4. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277176 Free PMC article.
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K. Taniguchi-Ikeda M, et al. J Hum Genet. 2016 Apr;61(4):351-5. doi: 10.1038/jhg.2015.157. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740235
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M, Morisada N, Inagaki H, Ouchi Y, Takami Y, Tachikawa M, Satake W, Kobayashi K, Tsuneishi S, Takada S, Yamaguchi H, Nagase H, Nozu K, Okamoto N, Nishio H, Toda T, Morioka I, Wada H, Kurahashi H, Iijima K. Taniguchi-Ikeda M, et al. Clin Genet. 2018 Apr;93(4):931-933. doi: 10.1111/cge.13106. Epub 2017 Dec 15. Clin Genet. 2018. PMID: 29243230 No abstract available.
Prenatal genetic testing for familial severe congenital protein C deficiency.
Tairaku S, Taniguchi-Ikeda M, Okazaki Y, Noguchi Y, Nakamachi Y, Mori T, Kubokawa I, Hayakawa A, Shibata A, Emoto T, Kurahashi H, Toda T, Kawano S, Yamada H, Morioka I, Iijima K. Tairaku S, et al. Hum Genome Var. 2015 Jun 25;2:15017. doi: 10.1038/hgv.2015.17. eCollection 2015. Hum Genome Var. 2015. PMID: 27081530 Free PMC article.
61 results