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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 11, 2021
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiencyYoko Saito, Kei Takasawa, Maki Gau, et al.
European Journal of Medical Genetics|February 4, 2019
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndromeAkito Sutani, Hirohito Shima, Atsushi Hijikata, et al.
Scientific Reports|September 7, 2018
Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular developmentAtsumi Tsuji-Hosokawa, Kenichi Kashimada, Tomoko Kato, et al.
Endocrine Journal|April 24, 2020
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in JapanShuichi Yatsuga, Naoko Amano, Akari Nakamura-Utsunomiya, et al.
Biology of Sex Differences|November 12, 2016
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced miceMami Miyado, Masafumi Inui, Maki Igarashi, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|November 1, 2019
Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseasesAkito Sutani, Yuichi Miyakawa, Atsumi Tsuji-Hosokawa, et al.
Hormone Research in Paediatrics|February 19, 2018
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in JapanTomohiro Ishii, Masanori Adachi, Kei Takasawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|January 12, 2026
Clinical features of neonatal Graves' disease revealed by twelve cases that require- antithyroid therapyEriko Adachi, Ryosei Iemura, Yumi Tanaka, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 14, 2017
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in JapanKeisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, et al.
Journal of Human Genetics|March 31, 2025
Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature reviewRyuta Orimoto, Eriko Adachi, Maki Gau, et al.
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