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459 results

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Page 1
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.
Fu XJ, Morisada N, Hashimoto F, Taniguchi-Ikeda M, Hashimura Y, Ohtsubo H, Ninchoji T, Kaito H, Nozu K, Takahashi E, Nakanishi K, Kurahashi H, Iijima K. Fu XJ, et al. Among authors: kurahashi h. Hum Genome Var. 2014 Aug 7;1:14006. doi: 10.1038/hgv.2014.6. eCollection 2014. Hum Genome Var. 2014. PMID: 27081500 Free PMC article.
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H. Mishra D, et al. Among authors: kurahashi h. Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. eCollection 2014. Mol Cytogenet. 2014. PMID: 25478009 Free PMC article.
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K. Nakagawa T, et al. Among authors: kurahashi h. Am J Med Genet A. 2016 Jan;170A(1):183-8. doi: 10.1002/ajmg.a.37397. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26419326
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. Among authors: kurahashi h. 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
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. Among authors: kurahashi h. 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.
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: kurahashi h. 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
PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene.
Kato M, Kato T, Hosoba E, Ohashi M, Fujisaki M, Ozaki M, Yamaguchi M, Sameshima H, Kurahashi H. Kato M, et al. Among authors: kurahashi h. Hum Genome Var. 2017 Jun 8;4:17021. doi: 10.1038/hgv.2017.21. eCollection 2017. Hum Genome Var. 2017. PMID: 28611924 Free PMC article.
459 results