Výsledky vyhledávání - Toshiro Nagai

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  1. 1
    Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

    Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions Autor Toshiro Nagai

    Vydáno 2003
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  2. 2
    Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST

    Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST Autor Masayo Kagami, Toshiro Nagai, Maki Fukami, Kazuki Yamazawa, Tsutomu Ogata

    Vydáno 2007
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  3. 3
    Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone

    Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone Autor Keiko Homma, Tomonobu Hasegawa, Toshiro Nagai, Masanori Adachi, Reiko Horikawa, Ikuma Fujiwara, Toshihiro Tajima, Ryoujun Takeda, Maki Fukami, Tsutomu Ogata

    Vydáno 2006
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  4. 4
    <i>PTPN11</i>(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome

    <i>PTPN11</i>(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome Autor Kenjiro Kosaki, Taichi A. Suzuki, Koji Muroya, Tomonobu Hasegawa, Seiji Sato, Nobutake Matsuo, Rika Kosaki, Toshiro Nagai, Yukihiro Hasegawa, Tsutomu Ogata

    Vydáno 2002
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  5. 5
    GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

    GATA3 abnormalities and the phenotypic spectrum of HDR syndrome Autor Koji Muroya, Tomonobu Hasegawa, Yoshiya Ito, Toshiro Nagai, Haruhiko Isotani, Y. Iwata, Keiichi Yamamoto, Shinji Fujimoto, Sotofumi Seishu, Y. Fukushima, Yukihiro Hasegawa, Tsutomu Ogata

    Vydáno 2001
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  6. 6
    Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation

    Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation Autor Scott Preiss, Anthony Argentaro, Andrew H. A. Clayton, Anna John, David A. Jans, Tsutomu Ogata, Toshiro Nagai, Inês Barroso, Alan J. Schafer, Vincent R. Harley

    Vydáno 2001
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  7. 7
    Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

    Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome Autor Tomoki Kosho, Koji Muroya, Toshiro Nagai, Masatoshi Fujimoto, Susumu Yokoya, Hiromi Sakamoto, Takeki Hirano, Hiroshi Terasaki, Hirofumi Ohashi, Gen Nishimura, Seiji Sato, Nobutake Matsuo, Tsutomu Ogata

    Vydáno 1999
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  8. 8
    Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan Syndrome

    Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan Syndrome Autor Rie Yoshida, Tomonobu Hasegawa, Yukihiro Hasegawa, Toshiro Nagai, Eiichi Kinoshita, Yoko Tanaka, Hirokazu Kanegane, Kenji Ohyama, Toshikazu Onishi, Kunihiko Hanew, Torayuki Okuyama, Reiko Horikawa, Toshiaki Tanaka, Tsutomu Ogata

    Vydáno 2004
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  9. 9
    Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients

    Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients Autor Maki Fukami, Reiko Horikawa, Toshiro Nagai, Toshiaki Tanaka, Yasuhiro Naiki, Naoko Sato, Torayuki Okuyama, Hideo Nakai, Shun Soneda, Katsuhiko Tachibana, Nobutake Matsuo, Seiji Sato, Keiko Homma, Gen Nishimura, Tomonobu Hasegawa, Tsutomu Ogata

    Vydáno 2005
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  10. 10
    Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

    Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome Autor Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata

    Vydáno 2013
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  11. 11
    Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

    Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia Autor Matthew J. Rock, Jean Prenen, Vincent Funari, Tara Funari, Barry Merriman, Stanley F. Nelson, Ralph S. Lachman, William R. Wilcox, Soraya Reyno, Roberto Quadrelli, Alicia Vaglio, Grzegorz Owsianik, Annelies Janssens, Thomas Voets, Shiro Ikegawa, Toshiro Nagai, David L. Rimoin, Bernd Nilius, Daniel H. Cohn

    Vydáno 2008
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  12. 12
    Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

    Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients Autor Maki Fukami, Gen Nishimura, Keiko Homma, Toshiro Nagai, Keiichi Hanaki, Ayumi Uematsu, Tomohiro Ishii, Chikahiko Numakura, Hirotake Sawada, Mariko Nakacho, Takanori Kowase, Katsuaki Motomura, Hidenori Haruna, Mihoko Nakamura, Akira Ohishi, Masanori Adachi, Toshihiro Tajima, Yukihiro Hasegawa, Tomonobu Hasegawa, Reiko Horikawa, Kenji Fujieda, Tsutomu Ogata

    Vydáno 2009
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  13. 13
    Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere

    Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere Autor Peter E. Warburton, Marisa Dolled, Radma Mahmood, Alicia Alonso, Shulan Li, Kenji Naritomi, Takaya Tohma, Toshiro Nagai, Tomonobu Hasegawa, Hirofumi Ohashi, Lutgarde Govaerts, Bert H.J. Eussen, J. O. Van Hemel, Carmen B. Lozzio, Stuart Schwartz, Jennifer J. Dowhanick-Morrissette, Nancy B. Spinner, Horacio Rivera, John A. Crolla, Chih-yu Yu, Dorothy Warburton

    Vydáno 2000
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  14. 14
    Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

    Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay Autor Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, T Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

    Vydáno 2010
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  15. 15
    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 Autor 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

    Vydáno 2013
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  16. 16
    ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

    ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms Autor Yoshihiro Onouchi, Tomohiko Gunji, Jane C. Burns, Chisato Shimizu, Jane W. Newburger, Mayumi Yashiro, Yoshikazu Nakamura, Hiroshi Yanagawa, Keiko Wakui, Yoshimitsu Fukushima, Fumio Kishi, Kunihiro Hamamoto, Masaru Terai, Yoshitake Sato, Kazunobu Ouchi, Tsutomu Saji, Akiyoshi Nariai, Yoichi Kaburagi, Tetsushi Yoshikawa, Kyoko Suzuki, Takeo Tanaka, Toshiro Nagai, Hideo Cho, Akihiro Fujino, Akihiro Sekine, Reiichiro Nakamichi, Tatsuhiko Tsunoda, Tomisaku Kawasaki, Yusuke Nakamura, Akira Hata

    Vydáno 2007
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  17. 17
    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 Autor 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

    Vydáno 2003
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  18. 18
    Common variants in CASP3 confer susceptibility to Kawasaki disease

    Common variants in CASP3 confer susceptibility to Kawasaki disease Autor Yoshihiro Onouchi, Kouichi Ozaki, Jane C. Buns, Chisato Shimizu, Hiromichi Hamada, Takafumi Honda, Masaru Terai, Akihito Honda, Takashi Takeuchi, Shoichi Shibuta, Tomohiro Suenaga, Hiroyuki Suzuki, Kouji Higashi, Kumi Yasukawa, Yoichi Suzuki, Kumiko Sasago, Yasushi Kemmotsu, Shinichi Takatsuki, Tsutomu Saji, Tetsushi Yoshikawa, Toshiro Nagai, Kunihiro Hamamoto, Fumio Kishi, Kazunobu Ouchi, Yoshitake Sato, Jane W. Newburger, Annette Baker, Stanford T. Shulman, Anne H. Rowley, Mayumi Yashiro, Yoshikazu Nakamura, Keiko Wakui, Yoshimitsu Fukushima, Akihiro Fujino, Tatsuhiko Tsunoda, Tomisaku Kawasaki, Akira Hata, Yusuke Nakamura, Toshihiro Tanaka

    Vydáno 2010
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  19. 19
    <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 Autor 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

    Vydáno 2013
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  20. 20
    Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

    Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III Autor H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke, Parastoo Momeni, Simon Groß, D. von Holtum, H. Hirche, Marc Abramowicz, Beate Albrecht, Can Apacik, H.‐J. Christen, U. Claussen, Koenraad Devriendt, Elisabeth Fastnacht, A. Forderer, U Friedrich, Thj Goodship, M. Greiwe, Henning Hamm, Raoul C. M. Hennekam, Georg Klaus Hinkel, Maria Hoeltzenbein, Hülya Kayserili, F. Majewski, M Mathieu, Ross McLeod, Alina T. Midro, Ute Moog, Toshiro Nagai, Norio Niikawa, Karen Helene Ørstavik, E Plöchl, C. S. Seitz, Jörg Schmidtke, Lisbeth Tranebjærg, Masato Tsukahara, B Wittwer, Bernhard Zabel, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke

    Vydáno 2001
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