Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
Dateki, Sumito, Nakatomi, Akiko, Watanabe, Satoshi, Shimizu, Hitomi, Inoue, Yukiko, Baba, Hideo, Yoshiura, Koh-Ichiro, Moriuchi, Hiroyuki
Published in Journal of human genetics (01.07.2017)
Published in Journal of human genetics (01.07.2017)
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Journal Article
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency
Dateki, Sumito, Watanabe, Satoshi, Mishima, Hiroyuki, Shirakawa, Toshihiko, Morikawa, Minoru, Kinoshita, Eiichi, Yoshiura, Koh-Ichiro, Moriuchi, Hiroyuki
Published in Journal of human genetics (01.04.2019)
Published in Journal of human genetics (01.04.2019)
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Journal Article
An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis
Setoguchi, Akito, Kawano, Hiroaki, Okano, Shinji, Honda, Tomohiro, Kato, Takeharu, Dateki, Sumito, Senoo, Akira, Nakashima, Yomi, Motokawa, Tetsufumi, Ueno, Yuki, Akashi, Ryohei, Yonekura, Tsuyoshi, Sueyoshi, Eijun, Ikeda, Satoshi, Miyazaki, Yasushi, Maemura, Koji
Published in Internal Medicine (15.01.2024)
Published in Internal Medicine (15.01.2024)
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Journal Article
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature
Hattori, Atsushi, Katoh-Fukui, Yuko, Nakamura, Akie, Matsubara, Keiko, Kamimaki, Tsutomu, Tanaka, Hiroyuki, Dateki, Sumito, Adachi, Masanori, Muroya, Koji, Yoshida, Shinobu, Ida, Shinobu, Mitani, Marie, Nagasaki, Keisuke, Ogata, Tsutomu, Suzuki, Erina, Hata, Kenichiro, Nakabayashi, Kazuhiko, Matsubara, Yoichi, Narumi, Satoshi, Tanaka, Toshiaki, Fukami, Maki
Published in Endocrine Journal (01.01.2017)
Published in Endocrine Journal (01.01.2017)
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Journal Article
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome
Motokawa, Midori, Watanabe, Satoshi, Nakatomi, Akiko, Kondoh, Tatsuro, Matsumoto, Tadashi, Morifuji, Kanako, Sawada, Hirotake, Nishimura, Toyoki, Nunoi, Hiroyuki, Yoshiura, Koh-Ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Published in Journal of human genetics (01.03.2018)
Published in Journal of human genetics (01.03.2018)
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Journal Article
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
Shimizu, Hitomi, Watanabe, Satoshi, Kinoshita, Akira, Mishima, Hiroyuki, Nishimura, Gen, Moriuchi, Hiroyuki, Yoshiura, Koh-Ichiro, Dateki, Sumito
Published in Journal of human genetics (01.05.2019)
Published in Journal of human genetics (01.05.2019)
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Journal Article
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5
Nakano, Yujiro, Komiya, Chikara, Shimizu, Hitomi, Mishima, Hiroyuki, Shiba, Kumiko, Tsujimoto, Kazutaka, Ikeda, Kenji, Kashimada, Kenichi, Dateki, Sumito, Yoshiura, Koh-ichiro, Ogawa, Yoshihiro, Yamada, Tetsuya
Published in Endocrine Journal (01.01.2020)
Published in Endocrine Journal (01.01.2020)
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Journal Article
Novel SGCE mutation (p.Glu65) in a Japanese family with myoclonus–dystonia
Koide, Noriko, Dateki, Sumito, Watanabe, Kiyoko, Moriuchi, Hiroyuki
Published in Pediatrics international (01.09.2017)
Published in Pediatrics international (01.09.2017)
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Journal Article
Molecular and clinical features of KATP‐channel neonatal diabetes mellitus in Japan
Hashimoto, Yukiko, Dateki, Sumito, Hirose, Masakazu, Satomura, Kenichi, Sawada, Hirotake, Mizuno, Haruo, Sugihara, Shigetaka, Maruyama, Koichi, Urakami, Tatsuhiko, Sugawara, Hidenori, Shirai, Kenji, Yorifuji, Tohru
Published in Pediatric diabetes (01.11.2017)
Published in Pediatric diabetes (01.11.2017)
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Journal Article
Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia
Yamamoto, Takenobu, Matsuda, Junko, Dateki, Sumito, Ouchi, Kazunobu, Fujimoto, Wataru
Published in Journal of dermatology (01.11.2016)
Published in Journal of dermatology (01.11.2016)
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Journal Article
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome
Dateki, Sumito, Kagami, Masayo, Matsubara, Keiko, Izumi, Kei, Watanabe, Satoshi, Nakatomi, Akiko, Kondoh, Tatsuro, Fukami, Maki, Moriuchi, Hiroyuki
Published in Journal of human genetics (01.10.2017)
Published in Journal of human genetics (01.10.2017)
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Journal Article
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China
Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Zhao, Xin-Jing, Deng, Mei, Ma, Yan-Li, Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, He, Xiang-Ling, Sunada, Yoshihide, Soneda, Shun, Nakatomi, Akiko, Dateki, Sumito, Ngu, Lock-Hock, Kobayashi, Keiko, Saheki, Takeyori
Published in PloS one (19.09.2013)
Published in PloS one (19.09.2013)
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Journal Article
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood
Miyakawa, Yuichi, Takasawa, Kei, Matsubara, Yohei, Ihara, Kenji, Ohtsu, Yoshiaki, Kamasaki, Hotaka, Kitsuda, Kazuteru, Kobayashi, Hironori, Satoh, Mari, Sano, Sinichiro, Dateki, Sumito, Mochizuki, Hiroshi, Yokota, Ichiro, Hasegawa, Yukihiro, Kashimada, Kenichi
Published in Endocrine Journal (01.01.2019)
Published in Endocrine Journal (01.01.2019)
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Journal Article
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature
Kawashima, Sayaka, Yagi, Hiroko, Hirano, Yasuhiro, Toki, Machiko, Izumi, Kei, Dateki, Sumito, Namba, Noriyuki, Kamimaki, Tsutomu, Muroya, Koji, Tanaka, Toshiaki, Fukami, Maki, Kagami, Masayo
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
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Journal Article
Genetic background of hyperphenylalaninemia in Nagasaki, Japan
Dateki, Sumito, Watanabe, Satoshi, Nakatomi, Akiko, Kinoshita, Eiichi, Matsumoto, Tadashi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Published in Pediatrics international (01.05.2016)
Published in Pediatrics international (01.05.2016)
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Journal Article
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities
Suzuki, Junichi, Azuma, Noriyuki, Dateki, Sumito, Soneda, Shun, Muroya, Koji, Yamamoto, Yukiyo, Saito, Reiko, Sano, Shinichiro, Nagai, Toshiro, Wada, Hiroshi, Endo, Akira, Urakami, Tatsuhiko, Ogata, Tsutomu, Fukami, Maki
Published in Journal of human genetics (01.06.2014)
Published in Journal of human genetics (01.06.2014)
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Journal Article
A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe
Ono, Sahoko, Matsuda, Junko, Saito, Aki, Yamamoto, Takenobu, Fujimoto, Wataru, Shimizu, Hitomi, Dateki, Sumito, Ouchi, Kazunobu
Published in Clinical Pediatric Endocrinology (2017)
Published in Clinical Pediatric Endocrinology (2017)
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Journal Article
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
Shima, Hirohito, Tanaka, Toshiaki, Kamimaki, Tsutomu, Dateki, Sumito, Muroya, Koji, Horikawa, Reiko, Kanno, Junko, Adachi, Masanori, Naiki, Yasuhiro, Tanaka, Hiroyuki, Mabe, Hiroyo, Yagasaki, Hideaki, Kure, Shigeo, Matsubara, Yoichi, Tajima, Toshihiro, Kashimada, Kenichi, Ishii, Tomohiro, Asakura, Yumi, Fujiwara, Ikuma, Soneda, Shun, Nagasaki, Keisuke, Hamajima, Takashi, Kanzaki, Susumu, Jinno, Tomoko, Ogata, Tsutomu, Fukami, Maki
Published in Journal of human genetics (01.07.2016)
Published in Journal of human genetics (01.07.2016)
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