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Preimplantation genetic diagnosis/screening by comprehensive molecular testing.
Kurahashi H, Kato T, Miyazaki J, Nishizawa H, Nishio E, Furukawa H, Miyamura H, Ito M, Endo T, Ouchi Y, Inagaki H, Fujii T. Kurahashi H, et al. Among authors: ouchi y. Reprod Med Biol. 2015 Jul 14;15(1):13-19. doi: 10.1007/s12522-015-0216-6. eCollection 2016 Jan. Reprod Med Biol. 2015. PMID: 29259418 Free PMC article. Review.
A PDE3A mutation in familial hypertension and brachydactyly syndrome.
Boda H, Uchida H, Takaiso N, Ouchi Y, Fujita N, Kuno A, Hata T, Nagatani A, Funamoto Y, Miyata M, Yoshikawa T, Kurahashi H, Inagaki H. Boda H, et al. Among authors: ouchi y. J Hum Genet. 2016 Aug;61(8):701-3. doi: 10.1038/jhg.2016.32. Epub 2016 Apr 7. J Hum Genet. 2016. PMID: 27053290
A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.
Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I. Kohmoto T, et al. Among authors: ouchi y. Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. eCollection 2017. Mol Cytogenet. 2017. PMID: 28465723 Free PMC article.
Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events.
Tacharoenmuang R, Komoto S, Guntapong R, Ide T, Haga K, Katayama K, Kato T, Ouchi Y, Kurahashi H, Tsuji T, Sangkitporn S, Taniguchi K. Tacharoenmuang R, et al. Among authors: ouchi y. PLoS One. 2015 Sep 30;10(9):e0139381. doi: 10.1371/journal.pone.0139381. eCollection 2015. PLoS One. 2015. PMID: 26421718 Free PMC article.
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K. Nagasaka M, et al. Among authors: ouchi y. J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27. J Hum Genet. 2017. PMID: 28446798
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. Among authors: ouchi y. 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.
862 results