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論文 (352件)
- Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata. Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review. Reproductive medicine and biology. 2025. 24. 1. e12635
- Kazuhisa Akiba, Keiko Matsubara, Atsushi Hattori, Maki Fukami. Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature. Endocrine journal. 2024
- Tomoe Ogawa, Hiromune Narusawa, Keisuke Nagasaki, Rika Kosaki, Yasuhiro Naiki, Michihiko Aramaki, Keiko Matsubara, Akie Nakamura, Maki Fukami, Tsutomu Ogata, et al. Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients. The Journal of clinical endocrinology and metabolism. 2024
- Atsushi Hattori, Maki Fukami. Precocious Puberty in Boys with NR0B1 Variants. Endocrines. 2024. 5. 4. 529-537
- Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, et al. Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance. Clinical epigenetics. 2024. 16. 1. 138-138
- Miki Kamimura, Hirohito Shima, Erina Suzuki, Chisumi Sogi, Ikuma Fujiwara, Mika Adachi, Hidenori Haruna, Noriyuki Takubo, Maki Fukami, Atsuo Kikuchi, et al. CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2024. 33. 4. 214-218
- Kazuhisa Akiba, Hiroaki Zukeran, Yukihiro Hasegawa, Maki Fukami. Initial clinical manifestations in a young male with RFX6-variant-associated diabetes. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2024. 33. 4. 224-228
- Erina Suzuki, Kazuhiko Nakabayashi, Saki Aoto, Tsutomu Ogata, Yoko Kuroki, Mami Miyado, Maki Fukami, Keiko Matsubara. DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism. Heliyon. 2024. 10. 18. e37648
- Hiromune Narusawa, Tomoe Ogawa, Hideaki Yagasaki, Keisuke Nagasaki, Tatsuki Urakawa, Tomohiro Saito, Shun Soneda, Saori Kinjo, Shinichiro Sano, Mitsukazu Mamada, et al. Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients. The Journal of clinical endocrinology and metabolism. 2024
- Yasuko Ogiwara, Yoshitomo Kobori, Erina Suzuki, Atsushi Hattori, Kanako Tanase-Nakao, Akiyoshi Osaka, Toshiyuki Iwahata, Hiroshi Okada, Yoko Kuroki, Maki Fukami. Isodicentric Y chromosome with multiple breakpoints in the pseudoautosomal region 1. Cytogenetic and genome research. 2024
- Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura. Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature. Human genome variation. 2024. 11. 1. 27-27
- Tsutomu Ogata, Atsushi Hattori, Maki Fukami. SHOX and sex difference in height: a hypothesis. Endocrine journal. 2024
- Erika Uehara, Kiyomi Abe, Kanako Tanase-Nakao, Koji Muroya, Atsushi Hattori, Keiko Matsubara, Maki Fukami, Satoshi Narumi. Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants. Thyroid : official journal of the American Thyroid Association. 2024
- Matsubara K, Ohgami Y, Okamura K, Aoto S, Fukami M, Shimada Y. Machine learning trial to detect sex differences in simple sticker arts of 1606 preschool children. 2024. 76. 3. 343-349
- Yoko Kuroki, Atsushi Hattori, Keiko Matsubara, Maki Fukami. Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders. Annals of pediatric endocrinology & metabolism. 2024. 29. 3. 156-160
- Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, et al. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics. 2024
- 澤野 堅太郎, 長崎 啓祐, 黒木 陽子, 深見 真紀. FGFR1エキソン内のAlu配列挿入によりカルマン症候群を呈した一例. 日本内分泌学会雑誌. 2024. 100. 1. 272-272
- 成澤 宏宗, 浦川 立貴, 長崎 啓祐, 矢ヶ崎 英晃, 内木 康博, 佐野 伸一朗, 齋藤 朋洋, 曽根田 瞬, 鳴海 覚志, 堀川 玲子, et al. 中枢性思春期早発症患者90症例の遺伝学的解析と臨床像の検討. 日本内分泌学会雑誌. 2024. 100. 1. 355-355
- 菊池 透, 山本 幸代, 浦上 達彦, 川村 智行, 菊池 信行, 伊藤 善也, 望月 美恵, 志賀 健太郎, 深見 真紀, 井原 健二, et al. 思春期1型糖尿病は、前思春期1型糖尿病よりもインスリンポンプ、SAPの使用率が低い. 日本内分泌学会雑誌. 2024. 100. 1. 311-311
- 菊池 透, 山本 幸代, 浦上 達彦, 川村 智行, 菊池 信行, 伊藤 善也, 望月 美恵, 志賀 健太郎, 深見 真紀, 井原 健二, et al. 思春期1型糖尿病は、前思春期1型糖尿病よりもインスリンポンプ、SAPの使用率が低い. 日本内分泌学会雑誌. 2024. 100. 1. 311-311
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