Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome
Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yoshiura, Ko-ichiro, Matsumoto, Naomichi
Published in Scientific reports (09.03.2016)
Published in Scientific reports (09.03.2016)
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MLL2 and KDM6A mutations in patients with Kabuki syndrome
Miyake, Noriko, Koshimizu, Eriko, Okamoto, Nobuhiko, Mizuno, Seiji, Ogata, Tsutomu, Nagai, Toshiro, Kosho, Tomoki, Ohashi, Hirofumi, Kato, Mitsuhiro, Sasaki, Goro, Mabe, Hiroyo, Watanabe, Yoriko, Yoshino, Makoto, Matsuishi, Toyojiro, Takanashi, Jun-Ichi, Shotelersuk, Vorasuk, Tekin, Mustafa, Ochi, Nobuhiko, Kubota, Masaya, Ito, Naoko, Ihara, Kenji, Hara, Toshiro, Tonoki, Hidefumi, Ohta, Tohru, Saito, Kayoko, Matsuo, Mari, Urano, Mari, Enokizono, Takashi, Sato, Astushi, Tanaka, Hiroyuki, Ogawa, Atsushi, Fujita, Takako, Hiraki, Yoko, Kitanaka, Sachiko, Matsubara, Yoichi, Makita, Toshio, Taguri, Masataka, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Yoshiura, Ko-Ichiro, Matsumoto, Naomichi, Niikawa, Norio
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura
Mushino, Toshiki, Hiroi, Takayuki, Yamashita, Yusuke, Suzaki, Norihiko, Mishima, Hiroyuki, Ueno, Masaki, Kinoshita, Akira, Minami, Koichi, Imai, Kohsuke, Yoshiura, Ko-ichiro, Sonoki, Takashi, Tamura, Shinobu
Published in Internal Medicine (15.06.2021)
Published in Internal Medicine (15.06.2021)
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Comprehensive analysis for detecting radiation-specific molecules expressed during radiation-induced rat thyroid carcinogenesis
Kurohama, Hirokazu, Matsuda, Katsuya, Kishino, Mio, Yoshino, Miruki, Yamaguchi, Yuka, Matsuu-Matsuyama, Mutsumi, Kondo, Hisayoshi, Mitsutake, Norisato, Kinoshita, Akira, Yoshiura, Ko-Ichiro, Nakashima, Masahiro
Published in Journal of radiation research (05.05.2021)
Published in Journal of radiation research (05.05.2021)
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Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome
Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yoshiura, Ko-Ichiro, Matsumoto, Naomichi
Published in Scientific reports (12.01.2017)
Published in Scientific reports (12.01.2017)
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Transforming growth factor beta1 (TGFβ1) polymorphisms and breast cancer risk
Amani, Davar, Khalilnezhad, Ahad, Ghaderi, Abbas, Niikawa, Norrio, Yoshiura, Ko-ichiro
Published in Tumor biology (01.05.2014)
Published in Tumor biology (01.05.2014)
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Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air
Yamasaki, Yoko, Kayashima, Tomohiko, Soejima, Hidenobu, Kinoshita, Akira, Yoshiura, Ko-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Urano, Takeshi, Masuzaki, Hideaki, Ishimaru, Tadayuki, Mukai, Tsunehiro, Niikawa, Norio, Kishino, Tatsuya
Published in Human molecular genetics (01.09.2005)
Published in Human molecular genetics (01.09.2005)
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Role of DNA Methylation and Histone H3 Lysine 27 Methylation in Tissue-Specific Imprinting of Mouse Grb10
Yamasaki-Ishizaki, Yoko, Kayashima, Tomohiko, Mapendano, Christophe K., Soejima, Hidenobu, Ohta, Tohru, Masuzaki, Hideaki, Kinoshita, Akira, Urano, Takeshi, Yoshiura, Ko-ichiro, Matsumoto, Naomichi, Ishimaru, Tadayuki, Mukai, Tsunehiro, Niikawa, Norio, Kishino, Tatsuya
Published in Molecular and Cellular Biology (01.01.2007)
Published in Molecular and Cellular Biology (01.01.2007)
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TERT mRNA Expression as a Novel Prognostic Marker in Papillary Thyroid Carcinomas
Tanaka, Aya, Matsuse, Michiko, Saenko, Vladimir, Nakao, Tomoe, Yamanouchi, Kosho, Sakimura, Chika, Yano, Hiroshi, Nishihara, Eijun, Hirokawa, Mitsuyoshi, Suzuki, Keiji, Miyauchi, Akira, Eguchi, Susumu, Yoshiura, Ko-Ichiro, Yamashita, Shunichi, Nagayasu, Takeshi, Mitsutake, Norisato
Published in Thyroid (New York, N.Y.) (01.08.2019)
Published in Thyroid (New York, N.Y.) (01.08.2019)
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BAC array CGH reveals genomic aberrations in idiopathic mental retardation
Miyake, Noriko, Shimokawa, Osamu, Harada, Naoki, Sosonkina, Nadia, Okubo, Aiko, Kawara, Hiroki, Okamoto, Nobuhiko, Kurosawa, Kenji, Kawame, Hiroshi, Iwakoshi, Mie, Kosho, Tomoki, Fukushima, Yoshimitsu, Makita, Yoshio, Yokoyama, Yuji, Yamagata, Takanori, Kato, Mitsuhiro, Hiraki, Yoko, Nomura, Masayo, Yoshiura, Ko-ichiro, Kishino, Tatsuya, Ohta, Tohru, Mizuguchi, Takeshi, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.02.2006)
Published in American journal of medical genetics. Part A (01.02.2006)
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Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion
Amani, Dawar, Ravangard, Fatemeh, Niikawa, Norrio, Yoshiura, Ko-ichiro, Karimzadeh, Mojtaba, Dehaghani, Alamtaj Samsami, Ghaderi, Abbas
Published in Journal of reproductive immunology (01.01.2011)
Published in Journal of reproductive immunology (01.01.2011)
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A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia
Tamura, Shinobu, Kosako, Hideki, Furuya, Yoshiaki, Yamashita, Yusuke, Mushino, Toshiki, Mishima, Hiroyuki, Kinoshita, Akira, Nishikawa, Akinori, Yoshiura, Ko-Ichiro, Sonoki, Takashi
Published in Acta haematologica (01.01.2022)
Published in Acta haematologica (01.01.2022)
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Lack of association between the TGF-β1 gene polymorphisms and recurrent spontaneous abortion
Amani, Dawar, Dehaghani, Alamtaj Samsami, Zolghadri, Jaleh, Ravangard, Fatemeh, Niikawa, Norrio, Yoshiura, Ko-ichiro, Ghaderi, Abbas
Published in Journal of reproductive immunology (01.12.2005)
Published in Journal of reproductive immunology (01.12.2005)
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A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
Ohata, Takako, Yoshida, Kunihiro, Sakai, Haruya, Hamanoue, Haruka, Mizuguchi, Takeshi, Shimizu, Yusaku, Okano, Tomomi, Takada, Fumio, Ishikawa, Kinya, Mizusawa, Hidehiro, Yoshiura, Ko-Ichiro, Fukushima, Yoshimitsu, Ikeda, Shu-Ichi, Matsumoto, Naomichi
Published in Journal of human genetics (01.05.2006)
Published in Journal of human genetics (01.05.2006)
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Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome
Miyake, Noriko, Visser, Remco, Kinoshita, Akira, Yoshiura, Ko-ichiro, Niikawa, Norio, Kondoh, Tatsuro, Matsumoto, Naomichi, Harada, Naoki, Okamoto, Nobuhiko, Sonoda, Tohru, Naritomi, Kenji, Kaname, Tadashi, Chinen, Yasutsugu, Tonoki, Hidefumi, Kurosawa, Kenji
Published in American journal of medical genetics. Part A (15.05.2005)
Published in American journal of medical genetics. Part A (15.05.2005)
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Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report
Ibe, Masaki, Tamura, Shinobu, Kosako, Hideki, Yamashita, Yusuke, Ishii, Masamichi, Tanaka, Masaoh, Mishima, Hiroyuki, Kinoshita, Akira, Iwabuchi, Sadahiro, Morita, Shuhei, Yoshiura, Ko-ichiro, Hashimoto, Shinichi, Nakao, Naoyuki, Inoue, Shigeaki
Published in Molecular genetics and metabolism reports (01.09.2024)
Published in Molecular genetics and metabolism reports (01.09.2024)
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Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
Kaname, Tadashi, Ki, Chang-Seok, Niikawa, Norio, Baillie, George S., Day, Jonathan P., Yamamura, Ken-ichi, Ohta, Tohru, Nishimura, Gen, Mastuura, Nobuo, Kim, Ok-Hwa, Sohn, Young Bae, Kim, Hyun Woo, Cho, Sung Yoon, Ko, Ah-Ra, Lee, Jin Young, Kim, Hyun Wook, Ryu, Sung Ho, Rhee, Hwanseok, Yang, Kap-Seok, Joo, Keehyoung, Lee, Jooyoung, Kim, Chi Hwa, Cho, Kwang-Hyun, Kim, Dongsan, Yanagi, Kumiko, Naritomi, Kenji, Yoshiura, Ko-ichiro, Kondoh, Tatsuro, Nii, Eiji, Tonoki, Hidefumi, Houslay, Miles D., Jin, Dong-Kyu
Published in Cellular signalling (01.11.2014)
Published in Cellular signalling (01.11.2014)
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On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS
Miyake, Noriko, Harada, Naoki, Shimokawa, Osamu, Ohashi, Hirofumi, Kurosawa, Kenji, Matsumoto, Tadashi, Fukushima, Yoshimitsu, Nagai, Toshiro, Shotelersuk, Vorasuk, Yoshiura, Ko-ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (15.07.2004)
Published in American journal of medical genetics. Part A (15.07.2004)
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Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation
Kitajima, Michio, Miura, Kiyonori, Inoue, Tsuneo, Murakami, Yuko, Kitajima, Yuriko, Murakami, Naoko, Taniguchi, Ken, Yoshiura, Ko-Ichiro, Masuzaki, Hideaki
Published in Gynecological endocrinology (04.05.2018)
Published in Gynecological endocrinology (04.05.2018)
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Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome
Kondoh, Yuki, Toma, Takaya, Ohashi, Hirofumi, Harada, Naoki, Yoshiura, Ko‐ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.07.2003)
Published in American journal of medical genetics. Part A (01.07.2003)
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