Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Yoshitsugu Sugio"'
Autor:
Shinji Saitoh, Ikumi Hori, Keiko Wakui, Rie Kawamura, Junko Tomikawa, Kenji Kurosawa, Ken Higashimoto, Kei Ohashi, Yutaka Negishi, Kazuhiko Nakabayashi, Kenichiro Hata, Daisuke Ieda, Hidetaka Watanabe, Yoshitsugu Sugio, Ayako Hattori, Hidenobu Soejima
Publikováno v:
Journal of Medical Genetics. 54:836-842
Background Heterozygous mutations in CTCF have been reported in patients with distinct clinical features including intellectual disability. However, the precise pathomechanism underlying the phenotype remains to be uncovered, partly because of the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a99bd1e23a4055bb26cee1413d7af47
https://doi.org/10.1136/jmedgenet-2017-104854
https://doi.org/10.1136/jmedgenet-2017-104854
Publikováno v:
Congenital anomaliesREFERENCES. 60(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05fa8924dd051d004203ac6ce6b6dae
https://pubmed.ncbi.nlm.nih.gov/31322785
https://pubmed.ncbi.nlm.nih.gov/31322785
Autor:
Yoshitsugu Sugio, Susumu Furukawa, Kunio Hashimoto, Yumi Okuda, Takashi Ichiyama, Fumiko Okino, Miki Nishikawa, Kazutoyo Asada
Publikováno v:
Cytokine. 42:71-76
Airway immunopathogenesis is unclear in patients with profound multiple disabilities (PMD) who undergo tracheostomy.The levels of tumor necrosis factor-alpha (TNF-alpha), interleukin-1beta (IL-1beta), IL-6, IL-8, IL-10, and IL-12p70 cytokines were de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7191e9cc6e5628846e292068bfc4d6c
https://doi.org/10.1016/j.cyto.2008.01.012
https://doi.org/10.1016/j.cyto.2008.01.012
Publikováno v:
Clinical Nuclear Medicine. 28:827-833
Diffuse pulmonary microvascular arteriovenous communication developed in an 8-year-old girl with a patent ductus venosus. Tc-99m macroaggregated albumin (MAA) pulmonary perfusion scintigraphy with total-body imaging demonstrated multiple lung perfusi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1298fe5ce43ee13c839ff594f4ab165f
https://doi.org/10.1097/01.rlu.0000090942.53156.61
https://doi.org/10.1097/01.rlu.0000090942.53156.61
Autor:
Toshiaki Tanaka, Kiyoshi Imaizumi, Masato Tsukahara, Hirofumi Ohashi, Yasutsugu Chinen, Tatsuya Kishino, Eiichi Kinoshita, Osamu Tsutsumi, Norio Niikawa, Tomoko Kaneko-Ishino, Takashi Kohda, Hidefumi Tonoki, Masao Yamada, Hiraku Uemura, Fumitoshi Ishino, Shin Kobayashi, Yoshitsugu Sugio, Kenji Naritomi, Toshiro Nagai
Publikováno v:
American Journal of Medical Genetics. 104:225-231
Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5aea2c320fe90e50990a7b3aa31f1964
https://doi.org/10.1002/ajmg.10022
https://doi.org/10.1002/ajmg.10022
Publikováno v:
Japanese journal of human genetics. 38:209-217
A male infant with "classical" Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd448d91aeca18bc4b0024e6feca4803
https://doi.org/10.1007/bf01883712
https://doi.org/10.1007/bf01883712
Autor:
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics; Dec2017, Vol. 54 Issue 12, p836-842, 7p
Autor:
Yoshitsugu Sugio, Yasunori Yoshimoto, Ryoichi Shimizu, Toshio Harada, Hiroko Tanaka, Toshihiro Saeki, Sayaka Nomura
Publikováno v:
Journal of pediatric surgery. 39(1)
A 10-year-old girl with a patent ductus venosus associated with multiple autoimmune disorders presented with hypoxia, cyanosis of her lips, and exertional dyspnea. Ultrasonography and abdominal computed tomography of the liver showed a communication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4354785615cbbab4b4a69be6dca9a933
https://pubmed.ncbi.nlm.nih.gov/14694396
https://pubmed.ncbi.nlm.nih.gov/14694396
Publikováno v:
American Journal of Medical Genetics. 51:13-15
We describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8-month-old infant girl, was otherwise phenotypically normal except for a median nodule of the upper lip. The proposita's elde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a3ee093631764a4e3ee35632c0c699
https://doi.org/10.1002/ajmg.1320510104
https://doi.org/10.1002/ajmg.1320510104
Autor:
Yoshitsugu Sugio, Masato Tsukahara
Publikováno v:
Journal of human genetics. 43(4)
We report on three brothers, aged 6, 3, and 2 years, with a hitherto undescribed combination of microcephaly, facial abnormalities, micromelia, and mild mental retardation. Their facial abnormalities included a forehead with bitemporal constriction,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78bb00cfb68b2f3c04072e91db735362
https://pubmed.ncbi.nlm.nih.gov/9852671
https://pubmed.ncbi.nlm.nih.gov/9852671