Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report

por Satomura, Yoshinori, Bessho, Kazuhiko, Kitaoka, Taichi, Takeyari, Shinji, Ohata, Yasuhisa, Kubota, Takuo, Ozono, Keiichi
Publicado 2021

4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts

por Takeyari, Shinji, Kubota, Takuo, Ohata, Yasuhisa, Fujiwara, Makoto, Kitaoka, Taichi, Taga, Yuki, Mizuno, Kazunori, Ozono, Keiichi
Publicado 2020

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta

por Yamada, Chieko, Kubota, Takuo, Ishimi, Takeshi, Takeyari, Shinji, Yamamoto, Kenichi, Nakayama, Hirofumi, Ohata, Yasuhisa, Fujiwara, Makoto, Kitaoka, Taichi, Ozono, Keiichi
Publicado 2022

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant

por Nishimura-Kinoshita, Naoko, Ohata, Yasuhisa, Sawai, Hiromi, Izawa, Masako, Takeyari, Shinji, Kubota, Takuo, Omae, Yosuke, Ozono, Keiichi, Tokunaga, Katsushi, Hamajima, Takashi
Publicado 2023

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4

por Takeyari, Shinji, Yamamoto, Kenichi, Fujiwara, Makoto, Ohata, Yasuhisa, Kitaoka, Taichi, Kubota, Takuo, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Ozono, Keiichi
Publicado 2023

Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-section...

por Ohata, Yasuhisa, Kitaoka, Taichi, Ishimi, Takeshi, Yamada, Chieko, Nakano, Yukako, Yamamoto, Kenichi, Takeyari, Shinji, Nakayama, Hirofumi, Fujiwara, Makoto, Kubota, Takuo, Ozono, Keiichi
Publicado 2023

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report

por Takeyari, Shinji, Takakuwa, Satoshi, Miyata, Kei, Yamamoto, Kenichi, Nakayama, Hirofumi, Ohata, Yasuhisa, Fujiwara, Makoto, Kitaoka, Taichi, Kubota, Takuo, Namba, Noriyuki, Sakai, Norio, Ozono, Keiichi
Publicado 2019

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparath...

por Ohata, Yasuhisa, Kakimoto, Haruna, Seki, Yuko, Ishihara, Yasuki, Nakano, Yukako, Yamamoto, Kenichi, Takeyari, Shinji, Fujiwara, Makoto, Kitaoka, Taichi, Takakuwa, Satoshi, Kubota, Takuo, Ozono, Keiichi
Publicado 2022