Matsuoka K - Search Results

1

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.

Yamazawa K, Nakabayashi K, Matsuoka K, Masubara K, Hata K, Horikawa R, Ogata T. Yamazawa K, et al. Among authors: matsuoka k. J Hum Genet. 2011 Jan;56(1):91-3. doi: 10.1038/jhg.2010.142. Epub 2010 Nov 11. J Hum Genet. 2011. PMID: 21068742

2

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).

Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T. Kagami M, et al. Among authors: matsuoka k. Eur J Hum Genet. 2015 Nov;23(11):1488-98. doi: 10.1038/ejhg.2015.13. Epub 2015 Feb 18. Eur J Hum Genet. 2015. PMID: 25689926 Free PMC article.

3

Mosaic upd(7)mat in a patient with Silver-Russell syndrome.

Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T. Fuke-Sato T, et al. Among authors: matsuoka k. Am J Med Genet A. 2012 Feb;158A(2):465-8. doi: 10.1002/ajmg.a.34404. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246578 No abstract available.

4

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.

Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T. Kagami M, et al. Among authors: matsuoka k. Clin Epigenetics. 2019 Mar 7;11(1):42. doi: 10.1186/s13148-019-0640-2. Clin Epigenetics. 2019. PMID: 30846001 Free PMC article.

5

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T. Yamazawa K, et al. Among authors: matsuoka k. J Mol Med (Berl). 2008 Oct;86(10):1171-81. doi: 10.1007/s00109-008-0377-4. Epub 2008 Jul 8. J Mol Med (Berl). 2008. PMID: 18607558

6

Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.

Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T. Kagami M, et al. Among authors: matsuoka k. Epigenetics. 2012 Oct;7(10):1142-50. doi: 10.4161/epi.21937. Epub 2012 Aug 23. Epigenetics. 2012. PMID: 22917972 Free PMC article.

7

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

Ito Y, Maehara K, Kaneki E, Matsuoka K, Sugahara N, Miyata T, Kamura H, Yamaguchi Y, Kono A, Nakabayashi K, Migita O, Higashimoto K, Soejima H, Okamoto A, Nakamura H, Kimura T, Wake N, Taniguchi T, Hata K. Ito Y, et al. Among authors: matsuoka k. Gynecol Obstet Invest. 2016;81(4):353-8. doi: 10.1159/000441780. Epub 2015 Nov 26. Gynecol Obstet Invest. 2016. PMID: 26606510

8

Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2.

Yamaguchi Y, Tayama C, Tomikawa J, Akaishi R, Kamura H, Matsuoka K, Wake N, Minakami H, Kato K, Yamada T, Nakabayashi K, Hata K. Yamaguchi Y, et al. Among authors: matsuoka k. Clin Epigenetics. 2019 Aug 1;11(1):113. doi: 10.1186/s13148-019-0712-3. Clin Epigenetics. 2019. PMID: 31370882 Free PMC article.

9

The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants.

Rumbajan JM, Yamaguchi Y, Nakabayashi K, Higashimoto K, Yatsuki H, Nishioka K, Matsuoka K, Aoki S, Toda S, Takeda S, Seki H, Hatada I, Hata K, Soejima H, Joh K. Rumbajan JM, et al. Among authors: matsuoka k. Gene. 2016 Jun 1;583(2):141-146. doi: 10.1016/j.gene.2016.02.025. Epub 2016 Feb 18. Gene. 2016. PMID: 26911255

10

Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation.

Iijima K, Nozu K, Kamei K, Nakayama M, Ito S, Matsuoka K, Ogata T, Kaito H, Nakanishi K, Matsuo M. Iijima K, et al. Among authors: matsuoka k. Pediatr Nephrol. 2010 Oct;25(10):2165-70. doi: 10.1007/s00467-010-1514-1. Epub 2010 Apr 13. Pediatr Nephrol. 2010. PMID: 20386926

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