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Kenji Kurosawa

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Tatsuhiko Yagihashi; Kenjiro Kosaki; Kenji Kurosawa; Seiji Mizuno; Nobuhiko Okamoto; Yuji Sato; Takao Takahashi; Rika Kosaki
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.
Yu Abe; Yoko Aoki; Hiroshi Kawame; Shigeo Kure; Shinichi Kuriyama; Kenji Kurosawa; Yoichi Matsubara; Seiji Mizuno; Tetsuya Niihori; Tsutomu Ogata; Hirofumi Ohashi; Nobuhiko Okamoto
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Tetsuya Niihori; Shinichi Niijima; Hironao Numabe; Hirofumi Ohashi; Akira Ohtake; Toshihiro Ohura; Nobuhiko Okamoto; Erika Okano; Isaku Omori; Toju Tanaka; Kyoko Watanabe; Yoko Aoki; Hiroshi Arai; Kenji Ihara; Johji Inazawa; Hiroshi Kawame; Kiyoshi Kikuchi; Yoshikazu Kuroki; Kenji Kurosawa; Hiroyo Mabe; Masaru Miura; Seiji Mizuno; Shin Nabatame; Yoichi Matsubara
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

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2012: Tatsuhiko Yagihashi; Kenjiro Kosaki; Kenji Kurosawa; Seiji Mizuno; Nobuhiko Okamoto; Yuji Sato; Takao Takahashi; Rika Kosaki
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.
Congenital anomalies 2012;52(2):82-6.
2012: Yu Abe; Yoko Aoki; Hiroshi Kawame; Shigeo Kure; Shinichi Kuriyama; Kenji Kurosawa; Yoichi Matsubara; Seiji Mizuno; Tetsuya Niihori; Tsutomu Ogata; Hirofumi Ohashi; Nobuhiko Okamoto
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
American journal of medical genetics. Part A 2012;158A(5):1083-94.
2011: Tetsuya Niihori; Shinichi Niijima; Hironao Numabe; Hirofumi Ohashi; Akira Ohtake; Toshihiro Ohura; Nobuhiko Okamoto; Erika Okano; Isaku Omori; Toju Tanaka; Kyoko Watanabe; Yoko Aoki; Hiroshi Arai; Kenji Ihara; Johji Inazawa; Hiroshi Kawame; Kiyoshi Kikuchi; Yoshikazu Kuroki; Kenji Kurosawa; Hiroyo Mabe; Masaru Miura; Seiji Mizuno; Shin Nabatame; Yoichi Matsubara
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Journal of human genetics 2011;56(10):707-15.
2011: Masaki Takagi; Yukichi Tanaka; Yasutsugu Chinen; Ryuji Fukuzawa; Naoaki Hori; Kenji Kurosawa; Gen Nishimura; Kikuko Oku; Hitomi Sakata; Jürgen Spranger; Tomonobu Hasegawa
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.
American journal of medical genetics. Part A 2011;155A(9):2269-73.
2010: Shoko Komatsuzaki; Yoko Aoki; Tetsuya Niihori; Nobuhiko Okamoto; Raoul C M Hennekam; Saskia Hopman; Hirofumi Ohashi; Seiji Mizuno; Yoriko Watanabe; Hotaka Kamasaki; Ikuko Kondo; Nobuko Moriyama; Kenji Kurosawa; Hiroshi Kawame; Ryuhei Okuyama; Masue Imaizumi; Takeshi Rikiishi; Shigeru Tsuchiya; Shigeo Kure; Yoichi Matsubara
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Journal of human genetics 2010;55(12):801-9.
2010: Tomoko Kobayashi; Yoko Aoki; Tetsuya Niihori; Hélène Cavé; Alain Verloes; Nobuhiko Okamoto; Hiroshi Kawame; Ikuma Fujiwara; Fumio Takada; Takako Ohata; Satoru Sakazume; Tatsuya Ando; Noriko Nakagawa; Pablo Lapunzina; Antonio G Meneses; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Kenji Kurosawa; Seiji Mizuno; Hirofumi Ohashi; Albert David; Nicole Philip; Afag Guliyeva; Yoko Narumi; Shigeo Kure; Shigeru Tsuchiya; Yoichi Matsubara
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Human mutation 2010;31(3):284-94.
2009: Hideo Kuniba; Koh-ichiro Yoshiura; Tatsuro Kondoh; Hirofumi Ohashi; Kenji Kurosawa; Hidefumi Tonoki; Toshiro Nagai; Nobuhiko Okamoto; Mitsuhiro Kato; Yoshimitsu Fukushima; Tadashi Kaname; Kenji Naritomi; Tadashi Matsumoto; Hiroyuki Moriuchi; Tatsuya Kishino; Akira Kinoshita; Noriko Miyake; Naomichi Matsumoto; Norio Niikawa
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Journal of human genetics 2009;54(5):304-9.
2008: Hideo Kuniba; Daisuke Sato; Koh-ichiro Yoshiura; Hirofumi Ohashi; Kenji Kurosawa; Noriko Miyake; Tasturo Kondoh; Tadashi Matsumoto; Toshiro Nagai; Nobuhiko Okamoto; Yoshimitsu Fukushima; Kenji Naritomi; Naomichi Matsumoto; Norio Niikawa
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
American journal of medical genetics. Part A 2008;146A(14):1893-6.
2008: Yoko Narumi; Yoko Aoki; Tetsuya Niihori; Masahiro Sakurai; Hélène Cavé; Alain Verloes; Kimio Nishio; Hirofumi Ohashi; Kenji Kurosawa; Nobuhiko Okamoto; Hiroshi Kawame; Seiji Mizuno; Tatsuro Kondoh; Marie-Claude Addor; Anne Coeslier-Dieux; Catherine Vincent-Delorme; Koichi Tabayashi; Masashi Aoki; Tomoko Kobayashi; Afag Guliyeva; Shigeo Kure; Yoichi Matsubara
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Journal of human genetics 2008;53(9):834-41.
2007: Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Isoko Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Koh-ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
American journal of human genetics 2007;81(4):835-41.
2007: Satoru Sakazume; Nobuhiko Okamoto; Toshiyuki Yamamoto; Kenji Kurosawa; Hironao Numabe; Yuko Ohashi; Yuko Kako; Toshiro Nagai; Hirohumi Ohashi
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
American journal of medical genetics. Part A 2007;143A(15):1703-7.
2007: Yoko Narumi; Yoko Aoki; Tetsuya Niihori; Giovanni Neri; Hélène Cavé; Alain Verloes; Caroline Nava; Maria Ines Kavamura; Nobuhiko Okamoto; Kenji Kurosawa; Raoul Hennekam; Louise C Wilson; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Pablo Lapunzina; Hirofumi Ohashi; Yoshio Makita; Ikuko Kondo; Shigeru Tsuchiya; Etsuro Ito; Kiyoko Sameshima; Kumi Kato; Shigeo Kure; Yoichi Matsubara
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
American journal of medical genetics. Part A 2007;143A(8):799-807.
2007: Hazuki Samejima; Chiharu Torii; Rika Kosaki; Kenji Kurosawa; Hiroshi Yoshihashi; Koji Muroya; Nobuhiko Okamoto; Yoriko Watanabe; Tomoki Kosho; Michiru Kubota; Osamu Matsuda; Miwa Goto; Kosuke Izumi; Takao Takahashi; Kenjiro Kosaki
Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
Genetic testing 2007;11(3):216-27.
2006: Hiroko Horikoshi; Zenichiro Kato; Mitsuo Masuno; Takahiko Asano; Tomoko Nagase; Yuka Yamagishi; Ryo Kozawa; Takahiro Arai; Minako Aoki; Takahide Teramoto; Kentaro Omoya; Naomichi Matsumoto; Naohiro Kurotaki; Osamu Shimokawa; Kenji Kurosawa; Naomi Kondo
Neuroradiologic findings in Sotos syndrome.
Journal of child neurology 2006;21(7):614-8.
2006: Tetsuya Niihori; Yoko Aoki; Yoko Narumi; Giovanni Neri; Hélène Cavé; Alain Verloes; Nobuhiko Okamoto; Raoul Hennekam; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Maria Ines Kavamura; Kenji Kurosawa; Hirofumi Ohashi; Louise Wilson; Delphine Heron; Dominique Bonneau; Giuseppina Corona; Tadashi Kaname; Kenji Naritomi; Clarisse Baumann; Naomichi Matsumoto; Kumi Kato; Shigeo Kure; Yoichi Matsubara
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nature genetics 2006;38(3):294-6.
2006: Noriko Miyake; Osamu Shimokawa; Naoki Harada; Nadiya Sosonkina; Aiko Okubo; Hiroki Kawara; Nobuhiko Okamoto; Kenji Kurosawa; Hiroshi Kawame; Mie Iwakoshi; Tomoki Kosho; Yoshimitsu Fukushima; Yoshio Makita; Yuji Yokoyama; Takanori Yamagata; Mitsuhiro Kato; Yoko Hiraki; Masayo Nomura; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Takeshi Mizuguchi; Norio Niikawa; Naomichi Matsumoto
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
American journal of medical genetics. Part A 2006;140(3):205-11.
2006: Noriko Miyake; Osamu Shimokawa; Naoki Harada; Nadiya Sosonkina; Aiko Okubo; Hiroki Kawara; Nobuhiko Okamoto; Hirofumi Ohashi; Kenji Kurosawa; Kenji Naritomi; Tadashi Kaname; Toshiro Nagai; Vorasuk Shotelersuk; Jia-Woei Hou; Yoshimitsu Fukushima; Tatsuro Kondoh; Tadashi Matsumoto; Toshihiko Shinoki; Mitsuhiro Kato; Hidefumi Tonoki; Masayo Nomura; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.
American journal of medical genetics. Part A 2006;140(3):291-3.
2006: Toru Udaka; Kenji Kurosawa; Kosuke Izumi; Shinobu Yoshida; Masato Tsukahara; Nobuhiko Okamoto; Chiharu Torii; Rika Kosaki; Mitsuo Masuno; Noboru Hosokai; Takao Takahashi; Kenjiro Kosaki
Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
Genetic testing 2006;10(4):265-71.
2005: Toru Udaka; Hazuki Samejima; Rika Kosaki; Kenji Kurosawa; Nobuhiko Okamoto; Seiji Mizuno; Yoshio Makita; Hironao Numabe; Joaquín Fernández Toral; Takao Takahashi; Kenjiro Kosaki
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.
Congenital anomalies 2005;45(4):125-31.
2005: Yoko Aoki; Tetsuya Niihori; Hiroshi Kawame; Kenji Kurosawa; Hirofumi Ohashi; Yukichi Tanaka; Mirella Filocamo; Kumi Kato; Yoichi Suzuki; Shigeo Kure; Yoichi Matsubara
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
Nature genetics 2005;37(10):1038-40.
2005: Noriko Miyake; Remco Visser; Akira Kinoshita; Koh-ichiro Yoshiura; Norio Niikawa; Tatsuro Kondoh; Naomichi Matsumoto; Naoki Harada; Nobuhiko Okamoto; Tohru Sonoda; Kenji Naritomi; Tadashi Kaname; Yasutsugu Chinen; Hidefumi Tonoki; Kenji Kurosawa
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2005;135(1):103-5.
2005: Tetsuya Niihori; Yoko Aoki; Hirofumi Ohashi; Kenji Kurosawa; Tatsuro Kondoh; Satoshi Ishikiriyama; Hiroshi Kawame; Hotaka Kamasaki; Tsutomu Yamanaka; Fumio Takada; Kimio Nishio; Masahiro Sakurai; Hiroshi Tamai; Tatsuro Nagashima; Yoichi Suzuki; Shigeo Kure; Kunihiro Fujii; Masue Imaizumi; Yoichi Matsubara
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
Journal of human genetics 2005;50(4):192-202.
2004: Kenji Kurosawa; Naoki Harada; Nadiya Sosonkina; Norio Niikawa; Naomichi Matsumoto; Shinji Saitoh
Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y).
American journal of medical genetics. Part A 2004;130A(3):322-4.
2004: Noriko Miyake; Naoki Harada; Osamu Shimokawa; Hirofumi Ohashi; Kenji Kurosawa; Tadashi Matsumoto; Yoshimitsu Fukushima; Toshiro Nagai; Vorasuk Shotelersuk; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.
American journal of medical genetics. Part A 2004;128A(2):170-2.
2004: Osamu Shimokawa; Kenji Kurosawa; Tomoko Ida; Naoki Harada; Tatsuro Kondoh; Noriko Miyake; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
Molecular characterization of inv dup del(8p): analysis of five cases.
American journal of medical genetics. Part A 2004;128A(2):133-7.
2003: Noriko Miyake; Naohiro Kurotaki; Hirobumi Sugawara; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masato Tsukahara; Satoshi Ishikiriyama; Tohru Sonoda; Yoko Miyoshi; Satoru Sakazume; Yoshimitsu Fukushima; Hirofumi Ohashi; Toshiro Nagai; Hiroshi Kawame; Kenji Kurosawa; Mayumi Touyama; Takashi Shiihara; Nobuhiko Okamoto; Junji Nishimoto; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
American journal of human genetics 2003;72(5):1331-7.