Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Tatsuro, Izumi"'
Publikováno v:
Brain and Development. 43:652-656
Two brothers with an IQSEC2 pathogenic variant presented with early onset intellectual disability, intractable epileptic seizures, autism spectrum disorders, postnatal microcephalus and slowly progressive rigid-spasticity. Their epileptic seizures we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c42864c15c181b9e6411401c8338d2a8
https://doi.org/10.1016/j.braindev.2020.12.020
https://doi.org/10.1016/j.braindev.2020.12.020
Autor:
Tomonobu Hazuku, Kisaburo Yamada, Masamoto Imaizumi, Toru Ikebe, Kei Shinoda, Kazuo Nakatsuka, Kazuhito Sekiguchi, Tatsuro Izumi, Yoshihiro Nishida
Publikováno v:
Case Reports in Ophthalmology, Vol 2, Iss 1, Pp 73-77 (2011)
Background: We present two patients who developed severe protrusion of the conjunctiva and chemosis secondary to Harlequin ichthyosis (HI). Case Reports: Case 1 was a male infant diagnosed with HI who had parchment-like appearance and conjunctival pr
Externí odkaz:
https://doaj.org/article/983206d66dc447fdb4dd89a9fafd519e
Autor:
Haruto Nishida, Tsutomu Daa, Tatsuro Izumi, Shinji Yano, So-ichi Suenobu, Kouki Miyakawa, Tomoko Sonoda, Hiroaki Miyahara, Kenji Ihara
Publikováno v:
Neuropathology. 38:400-406
Human herpes virus 6 (HHV-6) is known to cause primary encephalitis in the frontal lobes/cerebral hemisphere or reactivated encephalitis in the hippocampus, but the pathogenesis remains unclear. HHV-6B has also been detected in hippocampal samples in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7821702b1c1597912e9a8ee07f481de0
https://doi.org/10.1111/neup.12462
https://doi.org/10.1111/neup.12462
Publikováno v:
Brain and Development. 39:418-421
Objective To elucidate the novel biological functions of heparan sulfate (HS) by clinic-pathologically studying a patient with paroxysmal atrioventricular (AV) block. Patient A long-surviving male patient with Sanfilippo syndrome type A presented wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2839f7130b13c701c63991d6e9c421d1
https://doi.org/10.1016/j.braindev.2016.12.008
https://doi.org/10.1016/j.braindev.2016.12.008
Publikováno v:
Journal of pediatric hematology/oncology. 42(4)
Purpose There have been few reports on height disturbance in childhood acute lymphoblastic leukemia (ALL) patients treated without cranial radiation therapy (CRT). Our study aimed to clarify the critical period of growth in pediatric patients who wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb3ff6acd45f8099ce38625a4e3776a8
https://pubmed.ncbi.nlm.nih.gov/31842181
https://pubmed.ncbi.nlm.nih.gov/31842181
Autor:
Noriko Sangu, Shino Shimada, Yuko Kako, Katsumi Imai, Kiyokuni Miura, Toshiyuki Yamamoto, Nobuhiko Okamoto, Shuichi Shimakawa, Hironao Numabe, Satoru Nagata, Kenjiro Kosaki, Haruko Sakamoto, Mayo Ikeuchi, Tatsuro Izumi, Kiyoshi Takemoto, Seiji Mizuno, Tomohiro Chiyonobu, Ai Hayashi, Yoshihiro Maegaki, Mari Matsuo, Koichi Minami, Kenji Shimizu, Kyoko Watanabe, Tomohiro Kumada, Kazuhiro Haginoya, Kiyotaka Tomiwa, Masao Adachi, Yoko Hiraki, Kyoko Hirasawa, Toshiro Nagai, Yoshiaki Saito, Keiko Shimojima, Masaya Kubota
Publikováno v:
Brain and Development. 37:515-526
Objective Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion syndrome. Patients with this syndrome typically have common clinical features, such as intellectual disability, epilepsy, and characteristic craniofacial features. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ca8ba77c064b3b314b6d6b19142970
https://doi.org/10.1016/j.braindev.2014.08.002
https://doi.org/10.1016/j.braindev.2014.08.002
Autor:
Shohei Ogata, Tatsuro Izumi, Junko Shiono, Hiroyuki Moriuchi, Terufumi Goushi, Tsutomu Saji, Masahiro Ishii, Hiroyuki Ida, Keiji Tsuchiya, Masato Yokozawa, Tatsuya Kawano, Masako Fujiwara, Fukiko Ichida, Masae Ono, Hideki Motomura, Yoichi Kawamura, Shinichi Takatsuki, Mio Taketazu, Shiro Tsuchiya
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 59(12)
BACKGROUND A Japanese nationwide survey has reported that Down syndrome (DS) is a less-frequently occurring comorbidity in Kawasaki disease (KD). Although altered immune responses are frequently observed in DS, no studies have focused on the treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4214c175869758b3d0d6c276c871b328
https://pubmed.ncbi.nlm.nih.gov/28960680
https://pubmed.ncbi.nlm.nih.gov/28960680
Autor:
Yasuharu Ohno, Kenji Ihara, Hironori Goto, Tomonobu Hasegawa, Tatsuro Izumi, Tomoyo Itonaga, Manabu Toujigamori, Seigo Korematsu, Satoshi Narumi
Publikováno v:
Hormone research in paediatrics. 88(3-4)
Background: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2fcfa3753b9eb2b755c3046a9f97e7a
https://pubmed.ncbi.nlm.nih.gov/28528327
https://pubmed.ncbi.nlm.nih.gov/28528327
Publikováno v:
Neuropathology. 35:266-272
Cockayne syndrome presents senescence-like changes starting in early infancy; however, the mechanism of premature aging remains unclear. In an autopsy of a 23-year-old woman with Cockayne syndrome, we evaluated the correlation between Cockayne pathol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f75c9d558268ad770c086423434edaf6
https://doi.org/10.1111/neup.12183
https://doi.org/10.1111/neup.12183
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 59(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf2719f25506dad04338228c7e9a175
https://pubmed.ncbi.nlm.nih.gov/28707726
https://pubmed.ncbi.nlm.nih.gov/28707726