Kamura H - Search Results

1

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Masuda L, Hasegawa A, Kamura H, Hasegawa F, Yamamura M, Taniguchi K, Ito Y, Hata K, Samura O, Okamoto A. Masuda L, et al. Among authors: kamura h. Hum Genome Var. 2024 Aug 26;11(1):32. doi: 10.1038/s41439-024-00290-z. Hum Genome Var. 2024. PMID: 39183348 Free PMC article.

2

Genome-wide association study of preterm birth and gestational age in a Japanese population.

Hasegawa K, Kumasaka N, Nakabayashi K, Kamura H, Maehara K, Kasuga Y, Hata K, Tanaka M. Hasegawa K, et al. Among authors: kamura h. Hum Genome Var. 2023 Jun 13;10(1):19. doi: 10.1038/s41439-023-00246-9. Hum Genome Var. 2023. PMID: 37311799 Free PMC article.

3

Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.

Kitamura N, Ito Y, Kawai T, Kamura H, Yamamura M, Okubo H, Hasegawa A, Inoue M, Takahashi K, Miya M, Kawame H, Samura O, Okamoto A. Kitamura N, et al. Among authors: kamura h. Taiwan J Obstet Gynecol. 2024 May;63(3):418-421. doi: 10.1016/j.tjog.2024.03.009. Taiwan J Obstet Gynecol. 2024. PMID: 38802211 Free article.

4

Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.

Kawai T, Iwasaki Y, Ogata-Kawata H, Kamura H, Nakamura K, Hata K, Takano T, Nakabayashi K. Kawai T, et al. Among authors: kamura h. Eur J Med Genet. 2023 Aug;66(8):104806. doi: 10.1016/j.ejmg.2023.104806. Epub 2023 Jun 27. Eur J Med Genet. 2023. PMID: 37379880

5

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: kamura h. Gynecol Obstet Invest. 2016;81(4):353-8. doi: 10.1159/000441780. Epub 2015 Nov 26. Gynecol Obstet Invest. 2016. PMID: 26606510

6

Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.

Takano T, Nakabayashi K, Ota H, Arai Y, Kamura H, Hata K. Takano T, et al. Among authors: kamura h. Eur J Med Genet. 2020 Apr;63(4):103824. doi: 10.1016/j.ejmg.2019.103824. Epub 2019 Dec 9. Eur J Med Genet. 2020. PMID: 31830537

7

Compilation of copy number variants identified in phenotypically normal and parous Japanese women.

Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K. Migita O, et al. Among authors: kamura h. J Hum Genet. 2014 Jun;59(6):326-31. doi: 10.1038/jhg.2014.27. Epub 2014 May 1. J Hum Genet. 2014. PMID: 24785687

8

Increased epigenetic alterations at the promoters of transcriptional regulators following inadequate maternal gestational weight gain.

Kawai T, Yamada T, Abe K, Okamura K, Kamura H, Akaishi R, Minakami H, Nakabayashi K, Hata K. Kawai T, et al. Among authors: kamura h. Sci Rep. 2015 Sep 29;5:14224. doi: 10.1038/srep14224. Sci Rep. 2015. PMID: 26415774 Free PMC article.

9

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: kamura h. Clin Epigenetics. 2019 Aug 1;11(1):113. doi: 10.1186/s13148-019-0712-3. Clin Epigenetics. 2019. PMID: 31370882 Free PMC article.

10

Identification of epigenetic memory candidates associated with gestational age at birth through analysis of methylome and transcriptional data.

Kashima K, Kawai T, Nishimura R, Shiwa Y, Urayama KY, Kamura H, Takeda K, Aoto S, Ito A, Matsubara K, Nagamatsu T, Fujii T, Omori I, Shimizu M, Hyodo H, Kugu K, Matsumoto K, Shimizu A, Oka A, Mizuguchi M, Nakabayashi K, Hata K, Takahashi N. Kashima K, et al. Among authors: kamura h. Sci Rep. 2021 Feb 9;11(1):3381. doi: 10.1038/s41598-021-83016-3. Sci Rep. 2021. PMID: 33564054 Free PMC article. Clinical Trial.

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