Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Kikumi Ushijima"'
Autor:
Erina Suzuki, Yoshitomo Kobori, Momori Katsumi, Kikumi Ushijima, Toru Uchiyama, Hiroshi Okada, Mami Miyado, Maki Fukami
Publikováno v:
Reproductive Medicine and Biology, Vol 19, Iss 2, Pp 178-181 (2020)
Abstract Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY kar
Externí odkaz:
https://doaj.org/article/de1ae2876ed04bf4a44833944d2d2808
Autor:
Kikumi Ushijima-Fuchino1 ushijima_kikumi@kurume-u.ac.jp, Yuko Koga1, Satoko Umino1, Junko Nishioka1, Junichiro Araki1, Shuichi Yatsuga1,2, Yushiro Yamashita1
Publikováno v:
Clinical Pediatric Endocrinology. 2022, Vol. 31 Issue 3, p199-204. 6p.
Autor:
Yumi Asakura, Tomonobu Hasegawa, Koji Muroya, Yuya Ogawa, Miho Terao, Shuji Takada, Satoshi Narumi, Maki Fukami, Mie Hayashi, Tomohiro Ishii, Kikumi Ushijima, Ryohei Sekido
Publikováno v:
American Journal of Medical Genetics Part A. 185:1067-1075
SOX9, a transcription factor, is expressed in the undifferentiated XX and XY gonads. SRY induces significant upregulation of SOX9 expression in XY gonads. Loss-of-function SOX9 variants cause testicular dysgenesis in 46,XY patients, while duplication
Background: Pediatricians in Japan usually measure child body weight during medical examinations. However, they rarely measure height. There are no reports addressing the efficiency of height measurement at night or on holidays. Our study asked wheth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e1b6db6aa9976f1ba15a6573fe98ac9
https://doi.org/10.21203/rs.3.rs-1448926/v1
https://doi.org/10.21203/rs.3.rs-1448926/v1
Autor:
Kikumi Ushijima, Maki Fukami, Mami Miyado, Erina Suzuki, Yoshitomo Kobori, Toru Uchiyama, Momori Katsumi, Hiroshi Okada
Publikováno v:
Reproductive Medicine and Biology
Reproductive Medicine and Biology, Vol 19, Iss 2, Pp 178-181 (2020)
Reproductive Medicine and Biology, Vol 19, Iss 2, Pp 178-181 (2020)
Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY karyotype in
Background: Pediatricians in Japan usually measure child body weight during medical examinations. However, they rarely measure child height. Furthermore, during examinations at night or on holidays they may not measure child height at all. There are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a28db544e6b79ccf714067d42e02c307
https://doi.org/10.21203/rs.3.rs-1251715/v1
https://doi.org/10.21203/rs.3.rs-1251715/v1
Autor:
Kikumi, Ushijima, Yuya, Ogawa, Miho, Terao, Yumi, Asakura, Koji, Muroya, Mie, Hayashi, Tomohiro, Ishii, Tomonobu, Hasegawa, Ryohei, Sekido, Maki, Fukami, Shuji, Takada, Satoshi, Narumi
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(4)
SOX9, a transcription factor, is expressed in the undifferentiated XX and XY gonads. SRY induces significant upregulation of SOX9 expression in XY gonads. Loss-of-function SOX9 variants cause testicular dysgenesis in 46,XY patients, while duplication
Publikováno v:
Cureus
As sodium level in diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar state (HHS) is usually low, normal, or slightly elevated, severe hypernatremia with DKA and/or HHS is rare. Case 1 was a 14-year-old boy, presenting with typical laboratory
Autor:
Syuichi Yatsuga, Masayo Kagami, Maki Fukami, Kikumi Ushijima, Takako Matsumoto, Akie Nakamura
Publikováno v:
Journal of Human Genetics. 63:377-381
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) p
Autor:
Toru Kikuchi, Kikumi Ushijima, Toshikazu Takahashi, Ichiro Yokota, Tsutomu Ogata, Misako Okuno, Kazuhiro Ohkubo, Emiko Tachikawa, Satoshi Narumi, Maki Fukami, Tatsuhiko Urakami, Shoji F. Nakayama, Yoichi Matsubara, Kenichiro Hata, Junichi Arai, Shin Amemiya, Adolescent Diabetes, Kazuhiko Nakabayashi, Shigetaka Sugihara, Tomoyuki Kawamura, Tadayuki Ayabe, Nobuyuki Kikuchi, Akie Nakamura, Kenji Ihara
Publikováno v:
Pediatric Diabetes. 19:243-250
Background Mutations in causative genes for neonatal diabetes or maturity-onset diabetes of the young have been identified in multiple patients with autoantibody-negative type 1 diabetes (T1D). Objectives We aimed to clarify the prevalence and phenot