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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Sugimoto T, Inagaki H, Mariya T, Kawamura R, Taniguchi-Ikeda M, Mizuno S, Muramatsu Y, Tsuge I, Ohashi H, Saito N, Hasegawa Y, Ochi N, Yamaguchi M, Murotsuki J, Kurahashi H. Sugimoto T, et al. Among authors: murotsuki j. Hum Genet. 2023 Oct;142(10):1451-1460. doi: 10.1007/s00439-023-02591-9. Epub 2023 Aug 24. Hum Genet. 2023. PMID: 37615740 Free PMC article.
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P, Yamada T, Ohashi H, Nishimura G, Fujita H, Oishi Y, Nunode M, Ishikawa S, Murotsuki J, Yamashita Y, Ikegawa S, Ogi T, Arikawa-Hirasawa E, Ohno K. Farshadyeganeh P, et al. Among authors: murotsuki j. J Hum Genet. 2024 Feb 29. doi: 10.1038/s10038-024-01229-6. Online ahead of print. J Hum Genet. 2024. PMID: 38424183
Prenatal diagnosis of bone dysplasias.
Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M. Nishimura G, et al. Among authors: murotsuki j. Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025. Br J Radiol. 2023. PMID: 37351952 Review.
Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.
Sasaki Y, Yamada T, Tanaka S, Sekizawa A, Hirose T, Suzumori N, Kaji T, Kawaguchi S, Hasuo Y, Nishizawa H, Matsubara K, Hamanoue H, Fukushima A, Endo M, Yamaguchi M, Kamei Y, Sawai H, Miura K, Ogawa M, Tairaku S, Nakamura H, Sanui A, Mizuuchi M, Okamoto Y, Kitagawa M, Kawano Y, Masuyama H, Murotsuki J, Osada H, Kurashina R, Samura O, Ichikawa M, Sasaki R, Maeda K, Kasai Y, Yamazaki T, Neki R, Hamajima N, Katagiri Y, Izumi S, Nakayama S, Miharu N, Yokohama Y, Hirose M, Kawakami K, Ichizuka K, Sase M, Sugimoto K, Nagamatsu T, Shiga T, Tashima L, Taketani T, Matsumoto M, Hamada H, Watanabe T, Okazaki T, Iwamoto S, Katsura D, Ikenoue N, Kakinuma T, Hamada H, Egawa M, Kasamatsu A, Ida A, Kuno N, Kuji N, Ito M, Morisaki H, Tanigaki S, Hayakawa H, Miki A, Sasaki S, Saito M, Yamada N, Sasagawa T, Tanaka T, Hirahara F, Kosugi S, Sago H; Japan N. I. P. T. Consortium. Sasaki Y, et al. Among authors: murotsuki j. J Obstet Gynaecol Res. 2021 Oct;47(10):3437-3446. doi: 10.1111/jog.14954. Epub 2021 Aug 5. J Obstet Gynaecol Res. 2021. PMID: 34355471
Nationwide survey of intrauterine blood transfusion for fetal anemia in Japan.
Mizuuchi M, Murotsuki J, Ishii K, Yamamoto R, Sasahara J, Wada S, Takahashi Y, Nakata M, Murakoshi T, Sago H. Mizuuchi M, et al. Among authors: murotsuki j. J Obstet Gynaecol Res. 2021 Jun;47(6):2076-2081. doi: 10.1111/jog.14746. Epub 2021 Mar 15. J Obstet Gynaecol Res. 2021. PMID: 33723909
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S, Yamaguchi-Kabata Y, Shiga N, Tachibana M, Yasuda J, Tadaka S, Tamiya G, Fuse N, Kinoshita K, Kure S, Murotsuki J, Yamamoto M, Yaegashi N, Sugawara J. Nagaoka S, et al. Among authors: murotsuki j. Hum Genome Var. 2021 Jan 15;8(1):2. doi: 10.1038/s41439-020-00133-7. Hum Genome Var. 2021. PMID: 33452237 Free PMC article.
Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13.
Suzumori N, Sekizawa A, Takeda E, Samura O, Sasaki A, Akaishi R, Wada S, Hamanoue H, Hirahara F, Sawai H, Nakamura H, Yamada T, Miura K, Masuzaki H, Nakayama S, Kamei Y, Namba A, Murotsuki J, Yamaguchi M, Tairaku S, Maeda K, Kaji T, Okamoto Y, Endo M, Ogawa M, Kasai Y, Ichizuka K, Yamada N, Ida A, Miharu N, Kawaguchi S, Hasuo Y, Okazaki T, Ichikawa M, Izumi S, Kuno N, Yotsumoto J, Nishiyama M, Shirato N, Hirose T, Sago H. Suzumori N, et al. Among authors: murotsuki j. Eur J Obstet Gynecol Reprod Biol. 2021 Jan;256:75-81. doi: 10.1016/j.ejogrb.2020.10.050. Epub 2020 Oct 27. Eur J Obstet Gynecol Reprod Biol. 2021. PMID: 33171421
89 results