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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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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Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency
Fukami, Maki, Iso, Manami, Sato, Naoko, Igarashi, Maki, Seo, Misuzu, Kazukawa, Itsuro, Kinoshita, Eiichi, Dateki, Sumito, Ogata, Tsutomu
Published in Endocrine Journal (2013)
Published in Endocrine Journal (2013)
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Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis
Fukami, Maki, Dateki, Sumito, Kato, Fumiko, Hasegawa, Yukihiro, Mochizuki, Hiroshi, Horikawa, Reiko, Ogata, Tsutomu
Published in Journal of human genetics (01.05.2008)
Published in Journal of human genetics (01.05.2008)
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A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5
Yujiro Nakano, Chikara Komiya, Hitomi Shimizu, Hiroyuki Mishima, Kumiko Shiba, Kazutaka Tsujimoto, Kenji Ikeda, Kenichi Kashimada, Sumito Dateki, Koh-ichiro Yoshiura, Yoshihiro Ogawa, Tetsuya Yamada
Published in ENDOCRINE JOURNAL (2020)
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Published in ENDOCRINE JOURNAL (2020)
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Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood
Yuichi Miyakawa, Kei Takasawa, Yohei Matsubara, Kenji Ihara, Yoshiaki Ohtsu, Hotaka Kamasaki, Kazuteru Kitsuda, Hironori Kobayashi, Mari Satoh, Sinichiro Sano, Sumito Dateki, Hiroshi Mochizuki, Ichiro Yokota, Yukihiro Hasegawa, Kenichi Kashimada
Published in ENDOCRINE JOURNAL (2019)
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Published in ENDOCRINE JOURNAL (2019)
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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature
Atsushi Hattori, Yuko Katoh-Fukui, Akie Nakamura, Keiko Matsubara, Tsutomu Kamimaki, Hiroyuki Tanaka, Sumito Dateki, Masanori Adachi, Koji Muroya, Shinobu Yoshida, Shinobu Ida, Marie Mitani, Keisuke Nagasaki, Tsutomu Ogata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Satoshi Narumi, Toshiaki Tanaka, Maki Fukami, on behalf of the Japanese SHOX study group
Published in ENDOCRINE JOURNAL (01.10.2017)
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Published in ENDOCRINE JOURNAL (01.10.2017)
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A Japanese patient with a mild Lenz-Majewski syndrome
Dateki, Sumito, Kondoh, Tatsuro, Nishimura, Gen, Motomura, Katsuaki, Yoshiura, Koh-Ichiro, Kinoshita, Akira, Kuniba, Hideo, Koga, Yoshiyuki, Moriuchi, Hiroyuki
Published in Journal of human genetics (01.08.2007)
Published in Journal of human genetics (01.08.2007)
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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
Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi
Published in Clinical Pediatric Endocrinology (01.01.2017)
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Published in Clinical Pediatric Endocrinology (01.01.2017)
Journal Article
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency
Maki Fukami, Manami Iso, Naoko Sato, Maki Igarashi, Misuzu Seo, Itsuro Kazukawa, Eiichi Kinoshita, Sumito Dateki, Tsutomu Ogata
Published in ENDOCRINE JOURNAL (01.08.2013)
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Published in ENDOCRINE JOURNAL (01.08.2013)
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P7-14-3 Identification and characterization of a heterozygous microdeletion affecting LHX4 in a patient with combined pituitary hormone deficiency
Sumito Dateki, Ayumi Uematsu, Masayuki Kaji, Katsuaki Motomura, Eiichi Kinoshita, Hiroyuki Moriuchi, Maki Fukami, Tsutomu Ogata
Published in ENDOCRINE JOURNAL (2010)
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Published in ENDOCRINE JOURNAL (2010)
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Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients
Narusawa, Hiromune, Ogawa, Tomoe, Yagasaki, Hideaki, Nagasaki, Keisuke, Urakawa, Tatsuki, Saito, Tomohiro, Soneda, Shun, Kinjo, Saori, Sano, Shinichiro, Mamada, Mitsukazu, Terashita, Shintaro, Dateki, Sumito, Narumi, Satoshi, Naiki, Yasuhiro, Horikawa, Reiko, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Published in The journal of clinical endocrinology and metabolism (26.09.2024)
Published in The journal of clinical endocrinology and metabolism (26.09.2024)
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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
Kido, Jun, Häberle, Johannes, Tanaka, Toju, Nagao, Masayoshi, Wada, Yoichi, Numakura, Chikahiko, Bo, Ryosuke, Nyuzuki, Hiromi, Dateki, Sumito, Maruyama, Shinsuke, Murayama, Kei, Yoshida, Shinichiro, Nakamura, Kimitoshi
Published in Journal of inherited metabolic disease (12.09.2023)
Published in Journal of inherited metabolic disease (12.09.2023)
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Journal Article
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
Urakawa, Tatsuki, Sano, Shinichiro, Kawashima, Sayaka, Nakamura, Akie, Shima, Hirohito, Ohta, Motoki, Yamada, Yuki, Nishida, Ai, Narusawa, Hiromune, Ohtsu, Yoshiaki, Matsubara, Keiko, Dateki, Sumito, Maruo, Yoshihiro, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo
Published in European journal of endocrinology (06.12.2023)
Published in European journal of endocrinology (06.12.2023)
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