Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Yasuyuki Nozaki"'
Autor:
Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia. Magnetic resonance imaging
Externí odkaz:
https://doaj.org/article/12b74c1ddba54480a6e8a2d45216b9bc
Autor:
Saori Fukui, Mitsuru Seki, Takaomi Minami, Kazuhiko Kotani, Kensuke Oka, Akiko Yokomizo, Daisuke Matsubara, Tomoyuki Sato, Yasuyuki Nozaki, Mari Saito, Yutaka Kikuchi, Kenji Miyamoto, Yukifumi Monden, Takanori Yamagata
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Abstract Background High-dose intravenous immunoglobulin (IVIG) is the mainstay of treatment for Kawasaki disease (KD). Usually, 2 g/kg of IVIG is administered over 10–24 h, depending on the institution or physician, but the association between inf
Externí odkaz:
https://doaj.org/article/a7998922db004aaea3f4525340b037cc
Autor:
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequen
Externí odkaz:
https://doaj.org/article/9452f2d30f0a454aa154805cdae0f6ea
Autor:
Ayumi Matsumoto, Makoto Mizuno, Nanako Hamada, Yasuyuki Nozaki, Eriko F Jimbo, Mariko Y Momoi, Koh-ichi Nagata, Takanori Yamagata
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92695 (2014)
Interstitial deletion of 12q21 has been reported in four cases, which share several common clinical features, including intellectual disability (ID), low-set ears, and minor cardiac abnormalities. Comparative genomic hybridization (CGH) analysis usin
Externí odkaz:
https://doaj.org/article/04dce0fe940046a5809f7fae1020f0e1
Autor:
Takanori Yamagata, Mari Saito, Kensuke Oka, Saori Fukui, Tomoyuki Sato, Daisuke Matsubara, Yukifumi Monden, Yasuyuki Nozaki, Kenji Miyamoto, Akiko Yokomizo, Mitsuru Seki, Takaomi Minami, Yutaka Kikuchi, Kazuhiko Kotani
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Pediatric Rheumatology Online Journal
Pediatric Rheumatology Online Journal
Background High-dose intravenous immunoglobulin (IVIG) is the mainstay of treatment for Kawasaki disease (KD). Usually, 2 g/kg of IVIG is administered over 10–24 h, depending on the institution or physician, but the association between infusion spe
Akademický článek
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Autor:
Rieko Furukawa, Michito Namekawa, Janyerkye Tulyeu, Chika Watanabe, Hitoshi Osaka, Yukifumi Monden, Ayumi Matsumoto, Masato Mori, Toshinori Aihara, Eriko F. Jimbo, Yasuyuki Nozaki, Takanori Yamagata
Publikováno v:
Brain and Development. 40:587-591
Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 day
Autor:
Takanori Yamagata, Keisuke Nagasaki, Yutaka Negishi, Hirofumi Komaki, Shinji Saitoh, Jun Tohyama, Yasuyuki Nozaki, Ikumi Hori, Hiroko Tada, Daisuke Ieda
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
BackgroundSchaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprintedMAGEL2located in 15q11-q13.Yet, precise pathomechanism remains to be solved. We sequencedMAGEL2in p
Autor:
Koji Yokoyama, Ryou Kawamata, Takanori Yamagata, Masahide Goto, Shizuko Matsumoto, Yasuyuki Nozaki, Koichi Itoh
Publikováno v:
Braindevelopment. 39(9)
Purpose Few studies have investigated pediatric headaches in Japan. Thus, we examined the lifetime prevalence and characteristics of headaches among elementary and junior high school students in Japan. Methods In this school-based study, children age
Autor:
Tomomi Hayase, Nobuyuki Kanai, Mariko Y. Momoi, Yoshifumi Kashii, Aki Masuzawa, Yasuyuki Nozaki, Takae Ikeda, Yuta Kawahara, Akira Morimoto
Publikováno v:
Pediatric Transplantation. 16:E315-E319
A 13-yr-old boy with recurrent acute myeloid leukemia underwent HSCT using cells from an unrelated donor who matched all HLA antigens except one. Forty-two days later, the patient developed a steroid-refractory hepatitic variant of liver GVHD with pe