Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kiyotaka Suwa"'
Publikováno v:
Journal of the Japan Epilepsy Society. 29:470-475
ラモトリギン（LTG）はLennox-Gastaut症候群（LGS）における全般発作への適応をもつ抗てんかん薬である。今回2例のLGS患者に対するLTG併用療法の効果について報告する。【症例1】24歳、男性
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a4e3e471207e53f6816e3bb03210c7d
https://doi.org/10.3805/jjes.29.470
https://doi.org/10.3805/jjes.29.470
Autor:
Masato Mori, Mari Kuwajima, Mariko Y. Momoi, Naomi Nakashima, Kiyotaka Suwa, Takanori Yamagata
Publikováno v:
Brain and Development. 32:98-104
Linkage analysis has reported the chromosomal region 7q21 to be related with autism. This region contains an imprinting region with MECP2-binding sites, and DLX5 is reported to be modulated by MECP2. DLX5 and adjacent DLX6 are homeobox genes working
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1efc20b5ddd607cbbcabe3e9afe09f0
https://doi.org/10.1016/j.braindev.2008.12.021
https://doi.org/10.1016/j.braindev.2008.12.021
Autor:
Kiyotaka Suwa, Mariko Y. Momoi
Publikováno v:
Brain and Development. 26:380-383
The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c831081d08bcf84e4786fb6f592f7a4
https://doi.org/10.1016/j.braindev.2003.11.002
https://doi.org/10.1016/j.braindev.2003.11.002
Autor:
Kiyotaka Suwa, Takanori Yamagata, Kaori Ikematsu, Mariko Y. Momoi, Kouichi Sakamoto, Akio Fujimura, Kaori Murai
Publikováno v:
Therapeutic Drug Monitoring. 20:396-400
Serum concentrations of valproic acid (VPA) were reduced to 0% to 40% of the original levels by concomitant use with panipenem-betamipron (PAM-BP) in three patients. The serum VPA level began to decrease 2 days after the administration of PAPM-BP, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b5b9fffdf707ed33dfadbb4c8a644c
https://doi.org/10.1097/00007691-199808000-00008
https://doi.org/10.1097/00007691-199808000-00008
Autor:
Mariko Y. Momoi, Akira Shiota, Masatsugu Ueda, Eriko Fujita, Yuko Tanabe, Takashi Momoi, Kiyotaka Suwa
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 105(8)
Previous studies have demonstrated that mutation in the forkhead domain of the forkhead box P2 (FOXP2) protein (R553H) causes speech-language disorders. To further analyze FOXP2 function in speech learning, we generated a knockin (KI) mouse for Foxp2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f57a28d812bed12908ef870032980b
https://pubmed.ncbi.nlm.nih.gov/18287060
https://pubmed.ncbi.nlm.nih.gov/18287060
Publikováno v:
American Journal of Medical Genetics. 78:291-293
We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d0d992f6cdb8633594f77208435f99
https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<291::aid-ajmg17>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<291::aid-ajmg17>3.0.co
Autor:
Arito, Yozu, Kiyotaka, Suwa, Masato, Mori, Takanori, Yamagata, Masashi, Mizuguchi, Mariko Y, Momoi
Publikováno v:
No to hattatsu = Brain and development. 36(4)
Gradenigo syndrome is a rare condition consisting of otitis media, trigeminal neuralgia and abducens palsy. We report here a 6-year-old girl with this syndrome. Cranial magnetic resonance imaging (MRI) demonstrated inflammatory lesions in the left pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c9ea300ffe3c6cd924de4d2e8a211763
https://pubmed.ncbi.nlm.nih.gov/15272619
https://pubmed.ncbi.nlm.nih.gov/15272619
Autor:
Kiyotaka, Suwa, Masashi, Mizuguchi, Mariko Y, Momoi, Minako, Nakamura, Kunimasa, Arima, Hirofumi, Komaki, Ikuya, Nonaka
Publikováno v:
Neuropathology : official journal of the Japanese Society of Neuropathology. 22(4)
A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3af63afc63c636237fdc498f38618854
https://pubmed.ncbi.nlm.nih.gov/12564770
https://pubmed.ncbi.nlm.nih.gov/12564770
Autor:
Kiyotaka, Suwa, Mariko Y, Momoi
Publikováno v:
Nihon rinsho. Japanese journal of clinical medicine. 60
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::651b29760a985618bd13e8d7ccc50b52
https://pubmed.ncbi.nlm.nih.gov/12013857
https://pubmed.ncbi.nlm.nih.gov/12013857
Autor:
Johji Inazawa, Masahiko Onda, Takashi Tajiri, Mitsuru Emi, Yoshie Terada, Issei Imoto, Mariko Y. Momoi, Hisaki Nagai, Kiyotaka Suwa
Publikováno v:
American journal of medical genetics. 103(2)
We performed molecular analysis of a germline interstitial deletion of chromosome 4 [del(4)(q21.22q23)], which had been observed in a male infant manifesting early-onset hepatoblastoma (HBL). The chromosomal anomaly in this child was associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db88c5333d28e9a572540d0a7635501c
https://pubmed.ncbi.nlm.nih.gov/11568928
https://pubmed.ncbi.nlm.nih.gov/11568928