| 論文 |
papers |
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Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site. Hayate Masubuchi,Tatsuki Urakawa,Rika Kosaki,Riki Nishimura,Yasunori Wada,Sumito Dateki,Hideaki Yagasaki,Reiko Kagawa,Yutaka Nishimura,Hidenobu Soejima,Tsutomu Ogata,Maki Fukami,Masayo Kagami Clinical epigenetics 18巻1号 2026年02月03日
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Chromosomal and hormonal factors involved in human sexual dimorphism. Maki Fukami,Kohji Okamura,Shoko Sasaki,Masayo Kagami,Sumito Dateki Endocrine journal 2025年11月19日
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IRUDを契機に診断に至ったNorrie病児・保因者母に対する遺伝カウンセリング 松田 理子,原口 康平,高橋 友美,佐々木 規子,三嶋 博之,伊達木 澄人,吉浦 孝一郎,三浦 清徳 日本遺伝カウンセリング学会誌 46巻2号212頁-212頁 2025年07月
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Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. Yuri Hasegawa,Shoko Miura,Masayo Kagami,Sumito Dateki,Kiyonori Miura Cureus 17巻3号e80677頁- 2025年03月
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Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients. Hiromune Narusawa,Tomoe Ogawa,Hideaki Yagasaki,Keisuke Nagasaki,Tatsuki Urakawa,Tomohiro Saito,Shun Soneda,Saori Kinjo,Shinichiro Sano,Mitsukazu Mamada,Shintaro Terashita,Sumito Dateki,Satoshi Narumi,Yasuhiro Naiki,Reiko Horikawa,Tsutomu Ogata,Maki Fukami,Masayo Kagami The Journal of clinical endocrinology and metabolism 2024年09月26日
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Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data. Hiroyuki Saitou,Taichi Kitaoka,Takuo Kubota,Junko Kanno,Hiroshi Mochizuki,Toshimi Michigami,Kosei Hasegawa,Ikuma Fujiwara,Takashi Hamajima,Daisuke Harada,Yuko Seki,Keisuke Nagasaki,Sumito Dateki,Noriyuki Namba,Hirofumi Tokuoka,Jeanne M Pimenta,Shelda Cohen,Keiichi Ozono American journal of medical genetics. Part A 194巻8号e63612頁- 2024年03月30日
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くる病と鑑別を要する骨系統疾患Metaphyseal anadysplasia(MAD)の1例 本川 未都里,浦川 立貴,川村 遥,鏡 雅代,深見 真紀,難波 範行,伊達木 澄人 日本内分泌学会雑誌 99巻4号1142頁-1142頁 2024年01月
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(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. Tatsuki Urakawa,Shinichiro Sano,Sayaka Kawashima,Akie Nakamura,Hirohito Shima,Motoki Ohta,Yuki Yamada,Ai Nishida,Hiromune Narusawa,Yoshiaki Ohtsu,Keiko Matsubara,Sumito Dateki,Yoshihiro Maruo,Maki Fukami,Tsutomu Ogata,Masayo Kagami European journal of endocrinology 2023年12月01日
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Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence Kei Takasawa,Hiroyo Mabe,Fusa Nagamatsu,Naoko Amano,Yuichi Miyakawa,Akito Sutani,Reiko Kagawa,Satoshi Okada,Yusuke Tanahashi,Shigeru Suzuki,Shota Hiroshima,Keisuke Nagasaki,Sumito Dateki,Shigeru Takishima,Ikuko Takahashi,Kenichi Kashimada Patient Preference and Adherence 2023年08月
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志賀毒素産生腸管出血性大腸菌による溶血性尿毒症症候群(STEC-HUS)に対し急性期透析に腹膜透析を選択した2例 有森 諒太朗,白川 利彦,中嶋 有美子,松田 諒,伊達木 澄人,石井 佑佳子,松尾 祐子,濱田 優季,原田 定智,田代 香澄,種岡 飛翔,桑原 義典,本村 秀樹,篠原 彰太,山根 裕介,原田 淳樹,木原 敏晴,酒井 英樹,森内 浩幸 長崎医学会雑誌 97巻4号308頁-315頁 2023年03月
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Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site. Hayate Masubuchi,Tatsuki Urakawa,Rika Kosaki,Riki Nishimura,Yasunori Wada,Sumito Dateki,Hideaki Yagasaki,Reiko Kagawa,Yutaka Nishimura,Hidenobu Soejima,Tsutomu Ogata,Maki Fukami,Masayo Kagami Clinical epigenetics 18.1. 2026/02/03
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Chromosomal and hormonal factors involved in human sexual dimorphism. Maki Fukami,Kohji Okamura,Shoko Sasaki,Masayo Kagami,Sumito Dateki Endocrine journal 2025/11/19
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IRUDを契機に診断に至ったNorrie病児・保因者母に対する遺伝カウンセリング 松田 理子,原口 康平,高橋 友美,佐々木 規子,三嶋 博之,伊達木 澄人,吉浦 孝一郎,三浦 清徳 日本遺伝カウンセリング学会誌 46.2.212-212 2025/07
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Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. Yuri Hasegawa,Shoko Miura,Masayo Kagami,Sumito Dateki,Kiyonori Miura Cureus 17.3.e80677- 2025/03
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Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients. Hiromune Narusawa,Tomoe Ogawa,Hideaki Yagasaki,Keisuke Nagasaki,Tatsuki Urakawa,Tomohiro Saito,Shun Soneda,Saori Kinjo,Shinichiro Sano,Mitsukazu Mamada,Shintaro Terashita,Sumito Dateki,Satoshi Narumi,Yasuhiro Naiki,Reiko Horikawa,Tsutomu Ogata,Maki Fukami,Masayo Kagami The Journal of clinical endocrinology and metabolism 2024/09/26
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Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data. Hiroyuki Saitou,Taichi Kitaoka,Takuo Kubota,Junko Kanno,Hiroshi Mochizuki,Toshimi Michigami,Kosei Hasegawa,Ikuma Fujiwara,Takashi Hamajima,Daisuke Harada,Yuko Seki,Keisuke Nagasaki,Sumito Dateki,Noriyuki Namba,Hirofumi Tokuoka,Jeanne M Pimenta,Shelda Cohen,Keiichi Ozono American journal of medical genetics. Part A 194.8.e63612- 2024/03/30
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くる病と鑑別を要する骨系統疾患Metaphyseal anadysplasia(MAD)の1例 本川 未都里,浦川 立貴,川村 遥,鏡 雅代,深見 真紀,難波 範行,伊達木 澄人 日本内分泌学会雑誌 99.4.1142-1142 2024/01
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(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. Tatsuki Urakawa,Shinichiro Sano,Sayaka Kawashima,Akie Nakamura,Hirohito Shima,Motoki Ohta,Yuki Yamada,Ai Nishida,Hiromune Narusawa,Yoshiaki Ohtsu,Keiko Matsubara,Sumito Dateki,Yoshihiro Maruo,Maki Fukami,Tsutomu Ogata,Masayo Kagami European journal of endocrinology 2023/12/01
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Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence Kei Takasawa,Hiroyo Mabe,Fusa Nagamatsu,Naoko Amano,Yuichi Miyakawa,Akito Sutani,Reiko Kagawa,Satoshi Okada,Yusuke Tanahashi,Shigeru Suzuki,Shota Hiroshima,Keisuke Nagasaki,Sumito Dateki,Shigeru Takishima,Ikuko Takahashi,Kenichi Kashimada Patient Preference and Adherence 2023/08
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志賀毒素産生腸管出血性大腸菌による溶血性尿毒症症候群(STEC-HUS)に対し急性期透析に腹膜透析を選択した2例 有森 諒太朗,白川 利彦,中嶋 有美子,松田 諒,伊達木 澄人,石井 佑佳子,松尾 祐子,濱田 優季,原田 定智,田代 香澄,種岡 飛翔,桑原 義典,本村 秀樹,篠原 彰太,山根 裕介,原田 淳樹,木原 敏晴,酒井 英樹,森内 浩幸 長崎医学会雑誌 97.4.308-315 2023/03
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