Yamazawa K - Search Results

1

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T. Yamazawa K, et al. J Med Genet. 2010 Nov;47(11):782-5. doi: 10.1136/jmg.2010.079343. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685670 Free PMC article.

2

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Yamazawa K, Sugano K, Tanakaya K, Inoue S, Murakami H, Nakashima M, Adachi M, Oki S, Makabe T, Yamashita H, Ueki A, Sasaoka A, Nakashoji A, Kinoshita T, Matsunaga T, Arai M, Nakamura S, Miyata H, Ikegami M, Mano H, Kohsaka S, Matsui A. Yamazawa K, et al. Cancer Sci. 2023 Jul;114(7):2993-3002. doi: 10.1111/cas.15799. Epub 2023 Apr 17. Cancer Sci. 2023. PMID: 37067535 Free PMC article.

3

Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation.

Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Goto M, et al. Among authors: yamazawa k. Am J Med Genet A. 2006 May 1;140(9):1013-5. doi: 10.1002/ajmg.a.31198. Am J Med Genet A. 2006. PMID: 16575895 No abstract available.

4

Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism.

Yamazawa K, Wada Y, Sasagawa I, Aoki K, Ueoka K, Ogata T. Yamazawa K, et al. Horm Res. 2007;67(2):73-6. doi: 10.1159/000096089. Epub 2006 Oct 6. Horm Res. 2007. PMID: 17028442

5

Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST.

Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. Kagami M, et al. Among authors: yamazawa k. J Assist Reprod Genet. 2007 Apr;24(4):131-6. doi: 10.1007/s10815-006-9096-3. Epub 2007 Feb 16. J Assist Reprod Genet. 2007. PMID: 17450433 Free PMC article.

6

Placental hypoplasia in maternal uniparental disomy for chromosome 7.

Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. Yamazawa K, et al. Am J Med Genet A. 2008 Feb 15;146A(4):514-6. doi: 10.1002/ajmg.a.32125. Am J Med Genet A. 2008. PMID: 18203162 No abstract available.

7

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. 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

8

Placentomegaly in paternal uniparental disomy for human chromosome 14.

Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T. Kagami M, et al. Among authors: yamazawa k. Placenta. 2008 Aug;29(8):760-1. doi: 10.1016/j.placenta.2008.06.001. Epub 2008 Jul 11. Placenta. 2008. PMID: 18619672 No abstract available.

9

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. 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

10

Uniparental disomy and human disease: an overview.

Yamazawa K, Ogata T, Ferguson-Smith AC. Yamazawa K, et al. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):329-34. doi: 10.1002/ajmg.c.30270. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803655 Review.

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