Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Yohei Masunaga"'
Autor:
Chiyoshi Toyama, Hiroto Mizushima, Kenichi Kinjo, Yohei Masunaga, Yasuko Fujisawa, Isao Miyairi, Yukichi Tanahashi, Satoshi Osawa, Toshio Sawai
Publikováno v:
Surgical Case Reports, Vol 10, Iss 1, Pp 1-6 (2024)
Abstract Background Long tubular duplication is a rare congenital intestinal disease, that can lead to emergency situations marked by massive hemorrhage. However, preoperative diagnosis and surgical treatment are challenging. This report presents pre
Externí odkaz:
https://doaj.org/article/028123c236fb40dfb22da2400f95607d
Autor:
Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
Endocrine Journal, Vol 71, Iss 1, Pp 75-81 (2023)
We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/
Externí odkaz:
https://doaj.org/article/116442cda004408485d26080bfe322ef
Autor:
Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient 1 exhibited a unique constellation of clinical features including marked hy
Externí odkaz:
https://doaj.org/article/e26226f888b84c3dbfc3918a055ce68e
Autor:
Yamato Osawa, Nobutaka Ichiwata, Junko Kenmotsu, Tsuyoshi Okada, Yohei Masunaga, Tsutomu Ogata, Ichiro Morioka, Tatsuhiko Urakami
Publikováno v:
Clinical Pediatric Endocrinology; Apr2024, Vol. 33 Issue 2, p87-93, 7p
Autor:
Shinichiro Sano, Shotaro Iwamoto, Rie Matsushita, Yohei Masunaga, Yasuko Fujisawa, Tsutomu Ogata
Publikováno v:
Clinical Pediatric Endocrinology; Apr2024, Vol. 33 Issue 2, p66-70, 5p
Autor:
Shinichiro Sano1,2 sanosin2u@yahoo.co.jp, Yohei Masunaga2, Fumiko Kato3, Yasuko Fujisawa2, Hirotomo Saitsu4, Tsutomu Ogata2,3,5
Publikováno v:
Clinical Pediatric Endocrinology. 2022, Vol. 31 Issue 3, p172-177. 6p.
Autor:
Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
Endocrine Journal; 2024, Vol. 71 Issue 1, p75-81, 7p
Autor:
Yohei Masunaga, Yasuko Fujisawa, Francesco Massart, Claudio Spinelli, Yoshiyuki Kojima, Kentaro Mizuno, Yutaro Hayashi, Isoji Sasagawa, Rie Yoshida, Fumiko Kato, Maki Fukami, Naoyuki Kamatani, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context We have previously reported that a specific “AGATC” haplotype in a >34 kb tight linkage disequilibrium (LD) block within ESR1 is strongly associated with cryptorchidism and hypospadias in Japanese boys. Objective We aimed to determine the
Autor:
Yohei Masunaga, Yumiko Ohkubo, Gen Nishimura, Taizo Ueno, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
Journal of Human Genetics. 67:481-486
Although ACAN heterozygous loss-of-function variants often cause idiopathic short stature (ISS) phenotype, there is no report describing ISS phenotype caused by ACAN biallelic loss-of-function variants. We encountered a 4 1/12-year-old Japanese girl
Autor:
Nobuhiko Okamoto, Yohei Masunaga, Takuya Hiraide, Hirotomo Saitsu, Tsutomu Ogata, Yumiko Ohkubo, Tomoko Matsubayashi, Machiko Kadoya, Yoshinao Wada, Mitsuko Nakashima
Publikováno v:
Brain and Development. 43:945-951
Background ALG12-CDG is a rare autosomal recessive type I congenital disorder of glycosylation (CDG) due to pathogenic variants in ALG12 which encodes the dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase. Thirteen patients fr