Yagi M - Search Results

1

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Hayashi S, et al. Among authors: yagi m. J Hum Genet. 2011 Feb;56(2):110-24. doi: 10.1038/jhg.2010.129. Epub 2010 Oct 28. J Hum Genet. 2011. PMID: 20981036

2

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.

Hayashi S, Yagi M, Morisaki I, Inazawa J. Hayashi S, et al. Among authors: yagi m. J Hum Genet. 2015 Apr;60(4):203-6. doi: 10.1038/jhg.2014.123. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608831

3

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.

Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M. Tran TH, et al. Among authors: yagi m. J Hum Genet. 2013 Jan;58(1):33-9. doi: 10.1038/jhg.2012.131. Epub 2012 Dec 6. J Hum Genet. 2013. PMID: 23223008

4

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M. Takeshima Y, et al. Among authors: yagi m. J Hum Genet. 2010 Jun;55(6):379-88. doi: 10.1038/jhg.2010.49. Epub 2010 May 20. J Hum Genet. 2010. PMID: 20485447

5

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.

Suminaga R, Takeshima Y, Adachi K, Yagi M, Nakamura H, Matsuo M. Suminaga R, et al. Among authors: yagi m. J Hum Genet. 2002;47(4):196-201. doi: 10.1007/s100380200023. J Hum Genet. 2002. PMID: 12166656

6

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.

Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M. Yagi M, et al. Hum Genet. 2003 Feb;112(2):164-70. doi: 10.1007/s00439-002-0854-8. Epub 2002 Oct 31. Hum Genet. 2003. PMID: 12522557

7

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.

Awano H, Malueka RG, Yagi M, Okizuka Y, Takeshima Y, Matsuo M. Awano H, et al. Among authors: yagi m. J Hum Genet. 2010 Dec;55(12):785-90. doi: 10.1038/jhg.2010.111. Epub 2010 Sep 9. J Hum Genet. 2010. PMID: 20827276

8

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: yagi m. 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

9

Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.

Nishiyama A, Takeshima Y, Zhang Z, Habara Y, Tran TH, Yagi M, Matsuo M. Nishiyama A, et al. Among authors: yagi m. Ann Hum Genet. 2008 Nov;72(Pt 6):717-24. doi: 10.1111/j.1469-1809.2008.00468.x. Epub 2008 Jul 24. Ann Hum Genet. 2008. PMID: 18652600

10

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.

Zhang Z, Takeshima Y, Awano H, Nishiyama A, Okizuka Y, Yagi M, Matsuo M. Zhang Z, et al. Among authors: yagi m. J Hum Genet. 2008;53(3):215-219. doi: 10.1007/s10038-007-0235-1. Epub 2007 Dec 27. J Hum Genet. 2008. PMID: 18160999

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