Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani. Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration. Endocrine journal. 2024
Avinaash V Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S Brooks, et al. Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. JCI insight. 2024. 9. 6
Shintaro Senoo, Masanobu Fujimoto, Yukiko Yamaguchi, Mari Osaki, Keiichi Hanaki, Noriyuki Namba. Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2024. 33. 1. 27-34
Yuichiro Hashida, Yoichi Mino, Keisuke Okuno, Hitoshi Uemasu, Shinji Sakata, Masanobu Fujimoto, Noriyuki Namba. Thyroid hormone may predict treatment failure in Kawasaki disease. Pediatrics international : official journal of the Japan Pediatric Society. 2024. 66. 1. e15723
Masaki Kimura, Takuma Iguchi, Kentaro Iwasawa, Andrew Dunn, Wendy L. Thompson, Yosuke Yoneyama, Praneet Chaturvedi, Aaron M. Zorn, Michelle Wintzinger, Mattia Quattrocelli, et al. En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH. Cell. 2022. 185. 22. 4216-4232.e16
Yuki Kawashima Sonoyama, Fumihiko Hakuno, Akiko Hasegawa, Masachika Kai, Kaori Adachi, Masanobu Fujimoto, Naoki Miyahara, Rei Nishimura, Yukiko Sawa, Keiichi Hanaki, et al. HETEROZYGOUS IRS1 MUTATION CAUSES PRE- AND POSTNATAL GROWTH RETARDATION: A FAMILY WITH HETEROZYGOUS IRS1 MUTATION AND IGFALS MUTATION. HORMONE RESEARCH IN PAEDIATRICS. 2017. 88. 132-133
Yuki Kawashima, Yoshiki Okayama, Masanobu Fujimoto, Naoki Miyahara, Rei Nishimura, Keiichi Hanaki, Takeshi Usui, Susumu Kanzaki. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Derived from Novel Compound Heterozygous Mutations (IVS2-13 A/C > G and p.E431K). ENDOCRINE REVIEWS. 2014. 35. 3
Rei Nishimura, Takeshi Usui, Yoshiki Okayama, Masanobu Fujimoto, Naoki Miyahara, Yuki Kawashima, Keiichi Hanaki, Susumu Kanzaki. Three Novel Heterozygous Mutations Were Found in Exon 1 and Intron 1 of GNAS Gene in Patients with Pseudohypoparathyroidism Type la. ENDOCRINE REVIEWS. 2014. 35. 3
