檢索結果 - Tohru Ohta

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  1. 1
    Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

    Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion 由 Remco Visser, Osamu Shimokawa, Naoki Harada, Akira Kinoshita, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto

    出版 2004
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  2. 2
    A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway

    A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway 由 Yukio Watanabe, Akira Kinoshita, Takahiro Yamada, Tohru Ohta, Tatsuya Kishino, Naomichi Matsumoto, Mutsuo Ishikawa, N Niikawa, K. Yoshiura

    出版 2002
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  3. 3
    Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

    Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) 由 Tomohiko Kayashima, Hidenori Matsuo, Akira Satoh, Tohru Ohta, Koh-ichiro Yoshiura, Naomichi Matsumoto, Y. Nakane, Norio Niikawa, Tatsuya Kishino

    出版 2002
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  4. 4
    Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

    Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a 由 Kentaro Yamasaki, Kensuke Joh, Tohru Ohta, Hiroaki Masuzaki, Tetsuya Ishimaru, T Mukai, Norio Niikawa, Mari Ogawa, John Wagstaff, Tatsuya Kishino

    出版 2003
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  5. 5
    A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes

    A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes 由 James M. Gabriel, Mark Merchant, Tohru Ohta, Y. Ji, Robert Granville Caldwell, Marilyn J. Ramsey, James D. Tucker, Richard Longnecker, Robert D. Nicholls

    出版 1999
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  6. 6
    Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

    Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation 由 Tohru Ohta, Karin Buiting, Hannaleena Kokkonen, Shawn E. McCandless, Shauna Heeger, H. Leisti, Daniel J. Driscoll, Suzanne B. Cassidy, Bernhard Horsthemke, Robert D. Nicholls

    出版 1999
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  7. 7
    LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density

    LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density 由 Takeshi Mizuguchi, Itsuko Furuta, Yukio Watanabe, Kazuhiro Tsukamoto, Hiroshi Tomita, Mitsuhiro Tsujihata, Tohru Ohta, Tatsuya Kishino, Naomichi Matsumoto, Hisanori Minakami, Norio Niikawa, Koh-ichiro Yoshiura

    出版 2004
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  8. 8
    Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

    Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transp... 由 J-H. Chai, Devin P. Locke, John M. Greally, Joan H.M. Knoll, Tohru Ohta, Judit Dunai, Amy M. Yavor, Evan E. Eichler, Robert D. Nicholls

    出版 2003
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  9. 9
    Effect of psychological stress on the oral-gut microbiota and the potential oral-gut-brain axis

    Effect of psychological stress on the oral-gut microbiota and the potential oral-gut-brain axis 由 Durga Paudel, Osamu Uehara, Sarita Giri, Koki Yoshida, Tetsuro Morikawa, Takao Kitagawa, Hirofumi Matsuoka, Hiroko Miura, Akira Toyofuku, Yasuhiro Kuramitsu, Tohru Ohta, Masanobu Kobayashi, Yoshihiro Abiko

    出版 2022
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  10. 10
    Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

    Imprinting-Mutation Mechanisms in Prader-Willi Syndrome 由 Tohru Ohta, Todd A. Gray, Peter K. Rogan, Karin Buiting, James M. Gabriel, Shinji Saitoh, Bethi Muralidhar, B. Bilienska, Małgorzata Krajewska‐Walasek, Daniel J. Driscoll, Bernhard Horsthemke, Merlin G. Butler, Robert D. Nicholls

    出版 1999
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  11. 11
    Heterozygous TGFBR2 mutations in Marfan syndrome

    Heterozygous TGFBR2 mutations in Marfan syndrome 由 Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, Takayuki Morisaki, Delphine Allard, Mathilde Varret, Mireille Claustres, Hiroko Morisaki, Makoto Ihara, Akira Kinoshita, Koh-ichiro Yoshiura, Claudine Junien, Tadashi Kajii, Guillaume Jondeau, Tohru Ohta, Tatsuya Kishino, Yoichi Furukawa, Yusuke Nakamura, Norio Niikawa, Cathérine Boileau, Naomichi Matsumoto

    出版 2004
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  12. 12
    Clinical correlations of mutations affecting six components of the <scp>SWI</scp>/<scp>SNF</scp> complex: Detailed description of 21 patients and a review of the literature

    Clinical correlations of mutations affecting six components of the <scp>SWI</scp>/<scp>SNF</scp> complex: Detailed description of 21 patients and a review of the literature 由 Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi‐Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto

    出版 2013
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  13. 13
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome 由 Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark C. Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure

    出版 2010
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  14. 14
    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

    Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion 由 Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Līvija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto, Junji Nishimoto, Dorit Lev, Yoko Miyoshi, Satoshi Ishikiriyama, Tohru Sonoda, Satoru Sakazume, Yoshimitsu Fukushima, Kenji Kurosawa, Jan‐Fang Cheng, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto

    出版 2003
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  15. 15
    <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

    <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome 由 Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun‐ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko‐ichiro Yoshiura, Naomichi Matsumoto, Norio Niikawa

    出版 2013
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  16. 16
    Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

    Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome 由 Mark C. Hannibal, Kati J. Buckingham, Sarah Ng, Jeffrey E. Ming, Anita Beck, Margaret J. McMillin, Heidi Gildersleeve, Abigail W. Bigham, Holly K. Tabor, Heather C. Mefford, Joseph Cook, Koh‐ichiro Yoshiura, Tadashi Matsumoto, Naomichi Matsumoto, Noriko Miyake, Hidefumi Tonoki, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Hirofumi Ohashi, Kenji Kurosawa, Jia‐Woei Hou, Tohru Ohta, Deshung Liang, Akira Sudo, Colleen A. Morris, Siddharth Banka, Graeme Black, Jill Clayton‐Smith, Deborah A. Nickerson, Elaine H. Zackai, Tamim H. Shaikh, Dian Donnai, Norio Niikawa, Jay Shendure, Michael J. Bamshad

    出版 2011
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