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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Published in:
Human Genetics, 2023, v. 142, n. 10, p. 1451, doi. 10.1007/s00439-023-02591-9
By:
- Sugimoto, Takeshi;
- Inagaki, Hidehito;
- Mariya, Tasuku;
- Kawamura, Rie;
- Taniguchi-Ikeda, Mariko;
- Mizuno, Seiji;
- Muramatsu, Yukako;
- Tsuge, Ikuya;
- Ohashi, Hirofumi;
- Saito, Nakamichi;
- Hasegawa, Yuiko;
- Ochi, Nobuhiko;
- Yamaguchi, Masatoshi;
- Murotsuki, Jun;
- Kurahashi, Hiroki
Publication type:
Article
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 268, doi. 10.1002/ajmg.a.63424
By:
- Nishi, Eriko;
- Miyake, Noriko;
- Kawamura, Rie;
- Hosoki, Kana;
- Hasegawa, Yuiko;
- Matsumoto, Naomichi;
- Okamoto, Nobuhiko
Publication type:
Article
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 948, doi. 10.1002/ajmg.a.61142
By:
- Yamaguchi, Tomomi;
- Takano, Kyoko;
- Inaba, Yuji;
- Morikawa, Manami;
- Motobayashi, Mitsuo;
- Kawamura, Rie;
- Wakui, Keiko;
- Nishi, Eriko;
- Hirabayashi, Shin‐ichi;
- Fukushima, Yoshimitsu;
- Kato, Hiroyuki;
- Takahashi, Jun;
- Kosho, Tomoki
Publication type:
Article
Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1941, doi. 10.1002/ajmg.a.40350
By:
- Nishi, Eriko;
- Takasugi, Mizue;
- Kawamura, Rie;
- Shibuya, Soichi;
- Takamizawa, Shigeru;
- Hiroma, Takehiko;
- Nakamura, Tomohiko;
- Kosho, Tomoki
Publication type:
Article
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
Published in:
Chromosome Research, 2012, v. 20, n. 6, p. 659, doi. 10.1007/s10577-012-9300-5
By:
- Kawamura, Rie;
- Tanabe, Hideyuki;
- Wada, Takahito;
- Saitoh, Shinji;
- Fukushima, Yoshimitsu;
- Wakui, Keiko
Publication type:
Article
Energy output reduction and surface alteration of quartz tips following Er:YAG laser contact irradiation on soft and hard tissues in vitro.
Published in:
Dental Materials Journal, 2016, v. 35, n. 1, p. 51, doi. 10.4012/dmj.2015-020
By:
- Taichen LIN;
- Rie KAWAMURA;
- Akira AOKI;
- Shizuko ICHINOSE;
- Koji MIZUTANI;
- Yoichi TANIGUCHI;
- Torn EGURO;
- Norihito SAITO;
- Yuichi IZUMI
Publication type:
Article
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.
Published in:
Case Reports in Obstetrics & Gynecology, 2019, p. 1, doi. 10.1155/2019/6753184
By:
- Toshimitsu, Masatake;
- Nagaoka, Shinichi;
- Kobori, Shuusaku;
- Ogawa, Maki;
- Suzuki, Fumihiko;
- Kato, Takema;
- Miyai, Shunsuke;
- Kawamura, Rie;
- Inagaki, Hidehito;
- Kurahashi, Hiroki;
- Murotsuki, Jun
Publication type:
Article
A Turner syndrome case associated with dic(Y;22).
Published in:
Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00556-z
By:
- Kawamura, Rie;
- Inagaki, Hidehito;
- Yamada, Midori;
- Suzuki, Fumihiko;
- Naru, Yuki;
- Kurahashi, Hiroki
Publication type:
Article
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.
Published in:
2022
By:
- Yokoi, Katsuyuki;
- Nakajima, Yoko;
- Sudo, Yuta;
- Mariya, Tasuku;
- Kawamura, Rie;
- Tsutsumi, Makiko;
- Inagaki, Hidehito;
- Yoshikawa, Tetsushi;
- Ito, Tetsuya;
- Kurahashi, Hiroki
Publication type:
Case Study
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0640-2
By:
- Tsutsumi, Makiko;
- Hattori, Hiroyoshi;
- Akita, Nobuhiro;
- Maeda, Naoko;
- Kubota, Toshinobu;
- Horibe, Keizo;
- Fujita, Naoko;
- Kawai, Miki;
- Shinkai, Yasuko;
- Kato, Maki;
- Kato, Takema;
- Kawamura, Rie;
- Suzuki, Fumihiko;
- Kurahashi, Hiroki
Publication type:
Article
Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 3, p. 304, doi. 10.1002/pd.6334
By:
- Mariya, Tasuku;
- Shichiri, Yui;
- Sugimoto, Takeshi;
- Kawamura, Rie;
- Miyai, Syunsuke;
- Inagaki, Hidehito;
- Sugihara, Eiji;
- Ikeda, Keiko;
- Baba, Tsuyoshi;
- Ishikawa, Aki;
- Ammae, Michiko;
- Nakaoka, Yoshiharu;
- Saito, Tsuyoshi;
- Sakurai, Akihiro;
- Kurahashi, Hiroki
Publication type:
Article
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Published in:
Human Mutation, 2010, v. 31, n. 8, p. 966, doi. 10.1002/humu.21300
By:
- Miyake, Noriko;
- Kosho, Tomoki;
- Mizumoto, Shuji;
- Furuichi, Tatsuya;
- Hatamochi, Atsushi;
- Nagashima, Yoji;
- Arai, Eiichi;
- Takahashi, Kazuo;
- Kawamura, Rie;
- Wakui, Keiko;
- Takahashi, Jun;
- Kato, Hiroyuki;
- Yasui, Hiroshi;
- Ishida, Tadao;
- Ohashi, Hirofumi;
- Nishimura, Gen;
- Shiina, Masaaki;
- Saitsu, Hirotomo;
- Tsurusaki, Yoshinori;
- Doi, Hiroshi
Publication type:
Article

Found: 12