Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Kazuhiro Ohkubo"'
Autor:
Takaharu Yoshimatsu, Kozo Nagai, Reiji Miyawaki, Kyoko Moritani, Kazuhiro Ohkubo, Jun Kuwabara, Kyosuke Tatsuta, Mie Kurata, Mana Fukushima, Riko Kitazawa, Junpei Hamada, Fumihiro Ochi, Minenori Eguchi-Ishimae, Hisamichi Tauchi, Mariko Eguchi
Publikováno v:
Case Reports in Oncology, Vol 13, Iss 1, Pp 358-364 (2020)
We report a case of a 4-year-old girl with an ovarian steroid cell tumor, not otherwise specified (SCT-NOS). She was admitted to the hospital with progressing virilization and Cushing’s syndrome, which included abnormality of the perineum, hirsutis
Externí odkaz:
https://doaj.org/article/7363590f9098410b85509d9e850ecd75
Autor:
Yuri Sonoda, Kenichiro Yamamura, Kanako Ishii, Kazuhiro Ohkubo, Kenji Ihara, Yasunari Sakai, Shouichi Ohga
Publikováno v:
JCRPE, Vol 11, Iss 2, Pp 207-210 (2019)
Prostaglandin I2 (PGI2) causes hyperthyroidism, a critical complication in patients with pulmonary arterial hypertension (PAH). However, it remains unknown whether PGI2 may have unfavorable effects on thyroid function in children with congenital port
Externí odkaz:
https://doaj.org/article/5b7d28b931d34e24ada4e1e12caf2cef
Autor:
Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P. Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐
Externí odkaz:
https://doaj.org/article/23d552679e284c2998d8d1439a933b91
Autor:
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated wit
Externí odkaz:
https://doaj.org/article/83fab81d656f40b4bc89e9eb3321c438
Autor:
Riko Kitazawa, Junpei Hamada, Mariko Eguchi, Mana Fukushima, Hisamichi Tauchi, Takaharu Yoshimatsu, Reiji Miyawaki, Kyosuke Tatsuta, Jun Kuwabara, Fumihiro Ochi, Kazuhiro Ohkubo, Minenori Eguchi-Ishimae, Mie Kurata, Kozo Nagai, Kyoko Moritani
Publikováno v:
Case Reports in Oncology, Vol 13, Iss 1, Pp 358-364 (2020)
Case Reports in Oncology
Case Reports in Oncology
We report a case of a 4-year-old girl with an ovarian steroid cell tumor, not otherwise specified (SCT-NOS). She was admitted to the hospital with progressing virilization and Cushing’s syndrome, which included abnormality of the perineum, hirsutis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::563d6cbebc6b0876bfd0c89ff3639b6b
https://www.karger.com/Article/FullText/506044
https://www.karger.com/Article/FullText/506044
Autor:
Kenichiro Yamamura, Kazuhiro Ohkubo, Yasunari Sakai, Shouichi Ohga, Yuri Sonoda, Kenji Ihara, Kanako Ishii
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 11:207-210
Prostaglandin I2 (PGI2) causes hyperthyroidism, a critical complication in patients with pulmonary arterial hypertension (PAH). However, it remains unknown whether PGI2 may have unfavorable effects on thyroid function in children with congenital port
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eee254c916cf3e92fbea561ef9eec24c
https://doi.org/10.4274/jcrpe.galenos.2018.2018.0169
https://doi.org/10.4274/jcrpe.galenos.2018.2018.0169
Autor:
Shouichi Ohga, Mamoru Muraoka, Haruhisa Baba, Yoshitomo Motomura, Yoshito Ishizaki, Masafumi Sanefuji, Soichi Mizuguchi, Sooyoung Lee, Kosuke Yonemoto, Momoko Sasazuki, Michiko Torio, Yuko Ichimiya, Yasunari Sakai, Yuri Sonoda, Noriyuki Kaku, Kazuhiro Ohkubo
Publikováno v:
Journal of the Neurological Sciences. 395:141-146
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood-onset encephalopathy, but the precise pathophysiology remains unclear. We encountered a child with Moyamoya syndrome and AESD. He exhibited left-predominant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f9bc936b99308bc52d7d5b16ceafcb
https://doi.org/10.1016/j.jns.2018.10.007
https://doi.org/10.1016/j.jns.2018.10.007
Autor:
Masatoshi Nomura, Riho Horie, Tomoya Kubota, Shouichi Ohga, Kazuhiro Ohkubo, Vlad Tocan, Maki Nakaza, Yuichi Mushimoto, Michiko Torio, Masanori P. Takahashi, Noriko Ohyama, Mari Kurokawa, Ryuichi Sakamoto, Naoko Toda, Yasunari Sakai, Kanako Ishii, Kei Nishiyama
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Background Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐1 subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6907edc5c54195a271c0aa547cc1768f
https://doi.org/10.1002/mgg3.1175
https://doi.org/10.1002/mgg3.1175
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d265c1c02953f62b14e0a5f7491530d
https://doi.org/10.1111/pedi.12544
https://doi.org/10.1111/pedi.12544
Autor:
Sakae Kumasaka, Kenji Ihara, Yoshinori Kohno, Hiroko Arai, Makoto Kuwashima, Kazuhiro Ohkubo, Tokuo Miyazawa, Kazuo Sato, Maiko Misaki, Yuko Nagaoki, Masayuki Ochiai, Masahiko Kawai, Takeshi Futatani, Kanemasa Maki, Shinichi Watabe, Naoko Toda, Hiroshi Mizumoto, Toshiro Hara, Yutaka Kawamoto, Nobuhiro Takahashi, Yasuhisa Ueno, Setsuko Nakata, Yutaka Sumida, Atsushi Komatsu, Yukari Yada, Maki Sato, Akihiko Kawase, Kanako Kojima-Ishii
Publikováno v:
American Journal of Medical Genetics Part A. 173:360-367
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ad593fe13fd5d3b6d8bd5e1d6eb42e2
https://doi.org/10.1002/ajmg.a.38011
https://doi.org/10.1002/ajmg.a.38011