Current concepts in perinatal mineral metabolism

por Ohata, Yasuhisa, Ozono, Keiichi, Michigami, Toshimi
Publicado 2016

Phenotypes of a family with XLH with a novel PHEX mutation

por Yamamoto, Akiko, Nakamura, Toshiro, Ohata, Yasuhisa, Kubota, Takuo, Ozono, Keiichi
Publicado 2020

A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

por Nakano, Yukako, Ohata, Yasuhisa, Fujiwara, Makoto, Kubota, Takuo, Miyoshi, Yoko, Ozono, Keiichi
Publicado 2023

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

Endocrinological and phenotype evaluation in a patient with acrodysostosis

por Ueyama, Kaoru, Namba, Noriyuki, Kitaoka, Taichi, Yamamoto, Keiko, Fujiwara, Makoto, Ohata, Yasuhisa, Kubota, Takuo, Ozono, Keiichi
Publicado 2017

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

An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene

por Miura, Kohji, Namba, Noriyuki, Yamamoto, Keiko, Fujiwara, Makoto, Ohata, Yasuhisa, Kitaoka, Taichi, Kubota, Takuo, Michigami, Toshimi, Ozono, Keiichi
Publicado 2013

Clinical Practice Guidelines for Achondroplasia*

por Kubota, Takuo, Adachi, Masanori, Kitaoka, Taichi, Hasegawa, Kosei, Ohata, Yasuhisa, Fujiwara, Makoto, Michigami, Toshimi, Mochizuki, Hiroshi, 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

A Case of Primary Hyperparathyroidism in Childhood Found by a Chance Hematuria

por Ohata, Yasuhisa, Yamamoto, Takehisa, Kitai, Yukihiro, Mizoguchi, Yoshimi, Iwaki, Masaru, Sumi, Kiyoaki, Fujikawa, Yasuhiro, Koga, Minoru, Sugao, Hideki, Shimotsuji, Tsunesuke, Ozono, Keiichi
Publicado 2007

Dysregulated Gene Expression in the Primary Osteoblasts and Osteocytes Isolated from Hypophosphatemic Hyp Mice

por Miyagawa, Kazuaki, Yamazaki, Miwa, Kawai, Masanobu, Nishino, Jin, Koshimizu, Takao, Ohata, Yasuhisa, Tachikawa, Kanako, Mikuni-Takagaki, Yuko, Kogo, Mikihiko, Ozono, Keiichi, Michigami, Toshimi
Publicado 2014

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

Clinical Practice Guidelines for Hypophosphatasia*

por Michigami, Toshimi, Ohata, Yasuhisa, Fujiwara, Makoto, Mochizuki, Hiroshi, Adachi, Masanori, Kitaoka, Taichi, Kubota, Takuo, Sawai, Hideaki, Namba, Noriyuki, Hasegawa, Kosei, Fujiwara, Ikuma, Ozono, Keiichi
Publicado 2020

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

Increased S1P expression in osteoclasts enhances bone formation in an animal model of Paget's disease

por Nagata, Yuki, Miyagawa, Kazuaki, Ohata, Yasuhisa, Petrusca, Daniela N., Pagnotti, Gabriel M., Mohammad, Khalid S., Guise, Theresa A., Windle, Jolene J., David Roodman, G., Kurihara, Noriyoshi
Publicado 2020

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

por Miura, Kohji, Namba, Noriyuki, Fujiwara, Makoto, Ohata, Yasuhisa, Ishida, Hidekazu, Kitaoka, Taichi, Kubota, Takuo, Hirai, Haruhiko, Higuchi, Chikahisa, Tsumaki, Noriyuki, Yoshikawa, Hideki, Sakai, Norio, Michigami, Toshimi, Ozono, Keiichi
Publicado 2012

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

por Murata, Yuka, Kurosaka, Hiroshi, Ohata, Yasuhisa, Aikawa, Tomonao, Takahata, Sosuke, Fujii, Katsunori, Miyashita, Toshiyuki, Morita, Chisato, Inubushi, Toshihiro, Kubota, Takuo, Sakai, Norio, Ozono, Keiichi, Kogo, Mikihiko, Yamashiro, Takashi
Publicado 2019