Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Yoshishige Miyake"'
Autor:
Saki Noda, Kohei Aoyama, Yuto Kondo, Jun Okamura, Atsushi Suzuki, Naoya Yamaguchi, Aya Yoshida, Yoshishige Miyake
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an in
Externí odkaz:
https://doaj.org/article/48738cc8ae42438ea96468fb74b264f7
Autor:
Tatsuya Nishimura, Osamu Uemura, Satoshi Hibino, Kazuki Tanaka, Naomi Iwata, Masaki Yamamoto, Eiji Matsukuma, Yoshishige Miyake, Yoshimitsu Gotoh, Naoya Fujita
Publikováno v:
Clinical and Experimental Nephrology.
Autor:
Kohei Aoyama, Naoya Yamaguchi, Jun Okamura, Saki Noda, Yuto Kondo, Yoshishige Miyake, Atsushi Suzuki, Aya Yoshida
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who
Publikováno v:
Pediatrics International. 62:864-865
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 62(7)
Autor:
Takeshi Sahashi, Yoshishige Miyake, Naoyuki Iwata, Kazuyuki Yamamoto, Shunichi Terasawa, Yasuhiko Hanji
Publikováno v:
Pediatrics International. 55:722-726
Background Several drugs, when used chronically in very preterm infants, are considered to be associated with the development of late-onset circulatory collapse (LCC), which can lead to neurodevelopmental impairment. Despite its clinical importance,
Autor:
Yoshishige Miyake, Satoshi Narumi, Hiroshi Yoshihashi, Yukihiro Hasegawa, Yoshie Nakamura, Masaru Miura, Tomonobu Hasegawa, Masaki Takagi
Publikováno v:
American journal of medical genetics. Part A. (5)
Sotos syndrome (SoS, OMIM #117550) is an overgrowth syndrome. Deletions or intragenic mutations of the NSD1 , which is located at chromosome 5q35, are responsible for more than 75% of SoS. Conventionally, neonatal hypoglycemia was reported briefly as
Autor:
Yoshikazu Kawabe, Yoshishige Miyake, Kenji Goto, Toshihiro Ando, Kohachiro Sugiyama, Rou Li, Yoshiro Wada
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 29:583-587
Background: Investigations of adult patients have demonstrated that with seroconversion, changes occur from wild-type strains of the infecting virus to mutant strains. However, to date, there have been few reports and insufficient investigation of th
Natural emergence of an anti-hepatitis B s escape mutant in a young female hepatitis B virus carrier
Autor:
Toshihiro Ando, Kenji Goto, Kohachiro Sugiyama, Rou Li, Yoshikazu Kawabe, Yoshiro Wada, Yoshishige Miyake
Publikováno v:
Pediatrics International. 41:311-314
Publikováno v:
Pediatrics International. 41:187-191