Matsubara K - Search Results

1

Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.

Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M. Nakamura A, et al. Among authors: matsubara y, matsubara k. J Clin Endocrinol Metab. 2016 Jul;101(7):2623-7. doi: 10.1210/jc.2016-1725. Epub 2016 Jun 2. J Clin Endocrinol Metab. 2016. PMID: 27253667

2

Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.

Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T. Yamazawa K, et al. Among authors: matsubara k. J Hum Genet. 2008;53(10):950-955. doi: 10.1007/s10038-008-0329-4. Epub 2008 Aug 16. J Hum Genet. 2008. PMID: 18709478

3

Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.

Matsubara K, Iwamoto H, Yoshida A, Ogata T. Matsubara K, et al. Fertil Steril. 2010 Dec;94(7):2770.e7-10. doi: 10.1016/j.fertnstert.2010.04.013. Epub 2010 May 20. Fertil Steril. 2010. PMID: 20493473 Free article.

4

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.

Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T. Kagami M, et al. Among authors: matsubara k. PLoS Genet. 2010 Jun 17;6(6):e1000992. doi: 10.1371/journal.pgen.1000992. PLoS Genet. 2010. PMID: 20585555 Free PMC article.

5

Prenatal findings of paternal uniparental disomy 14: Delineation of further patient.

Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M. Suzumori N, et al. Among authors: matsubara k. Am J Med Genet A. 2010 Dec;152A(12):3189-92. doi: 10.1002/ajmg.a.33719. Am J Med Genet A. 2010. PMID: 21108407 No abstract available.

6

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.

Matsubara K, Murakami N, Nagai T, Ogata T. Matsubara K, et al. J Hum Genet. 2011 Aug;56(8):566-71. doi: 10.1038/jhg.2011.59. Epub 2011 Jun 2. J Hum Genet. 2011. PMID: 21633360

7

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.

Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Kagami M, et al. Among authors: matsubara k. Eur J Hum Genet. 2012 Sep;20(9):928-32. doi: 10.1038/ejhg.2012.26. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353941 Free PMC article.

8

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: matsubara k. Epigenetics. 2012 Oct;7(10):1142-50. doi: 10.4161/epi.21937. Epub 2012 Aug 23. Epigenetics. 2012. PMID: 22917972 Free PMC article.

9

Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

Matsubara K, Ogata T. Matsubara K, et al. J Hum Genet. 2013 Mar;58(3):118-9. doi: 10.1038/jhg.2013.4. Epub 2013 Jan 31. J Hum Genet. 2013. PMID: 23364392 No abstract available.

10

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T. Fuke T, et al. Among authors: matsubara k. PLoS One. 2013;8(3):e60105. doi: 10.1371/journal.pone.0060105. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533668 Free PMC article.

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