Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Masae Ono"'
Autor:
Hisato Suzuki, Masae Ono, Tomohiro Ishii, Mamiko Yamada, Toshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki
Publikováno v:
American Journal of Medical Genetics Part A.
Some mammalian genes contain both major and minor introns, the splicing of which require distinctive major and minor spliceosomes, respectively; these genes are referred to as minor intron containing-genes. RNPC3 (RNA-binding domain-containing protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b1801070f69df593157108462bb302a
https://doi.org/10.1002/ajmg.a.62152
https://doi.org/10.1002/ajmg.a.62152
Autor:
Yuki Aimi, Toru Satoh, Hideaki Yoshino, Masaharu Kataoka, Masae Ono, Tomomi Hirayama, Yuichi Momose, Shinobu Gamou
Publikováno v:
Annals of Human Genetics. 79:85-91
A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48a699d80c704521d66469a10aa60ab2
https://doi.org/10.1111/ahg.12096
https://doi.org/10.1111/ahg.12096
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:
Banyar Than Naing, Takashi Shimada, Shinji Tanigaki, Masae Ono, Atsushi Watanabe, Mitsutoshi Iwashita
Publikováno v:
International Medical Case Reports Journal
The vascular type of Ehlers-Danlos syndrome (EDS), EDS type IV (Online Mendelian Inheritance in Man [MIM] #130050) is characterized by thin, translucent skin, easy bruising, and arterial, intestinal, and/or uterine fragility during pregnancy, which m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b0936f2b0ca14e1ab4946c641e530f
http://europepmc.org/articles/PMC4069127
http://europepmc.org/articles/PMC4069127
Autor:
Masae Ono, Miho Fukui, Takuya Tanabe, Shuichi Shimakawa, Tohru Shinohara, Hiroshi Tamai, Shohei Nomura, Michiko Nonaka, Toshiya Nishikubo, Mitsuhiko Nambu, Kohji Azumagawa
Publikováno v:
Pediatrics International. 57:670-672
Background It is unclear whether the incidence of febrile seizure (FS) in children with Down syndrome (DS) is higher or lower than in the general population. In this study, we investigated the incidence of FS in DS patients using mailed questionnaire
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::beb81fb10ec3c12e133531af0b2119f1
https://doi.org/10.1111/ped.12601
https://doi.org/10.1111/ped.12601
Autor:
Shinichi Takatsuki, Masato Yokozawa, Masae Ono, Masako Fujiwara, Horoyuki Ida, Hideki Motomura, Horoyuki Moriuchi, Mio Taketazu, Junichi Oki, Shigeaki Nonoyama, Tatsuya Kawano, Kenji Ihara, Sachiko Kido, Junko Shiono, Shiro Tsuchiya, Keiji Tsuchiya, Teruhumi Goushi, Shuhei Ogata, Masahiro Ishii, Fukiko Ichida, Tsutomu Saji
Publikováno v:
Circulation. 131
Background: Japanese nationwide survey reported that Down syndrome (DS) is less-frequently occurring comorbidity in Kawasaki disease (KD). Thus, no studies have focused treatment response and risk for coronary artery abnormalities (CAAs) in KD with D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e09f57b12bd496db71c9920077fb6b9
https://doi.org/10.1161/circ.131.suppl_2.o04
https://doi.org/10.1161/circ.131.suppl_2.o04
Autor:
Shuichi, Shimakawa, Takuya, Tanabe, Masae, Ono, Michiko, Nonaka, Mitsuhiko, Nambu, Tohru, Shinohara, Toshiya, Nishikubo, Miho, Fukui, Shohei, Nomura, Kohji, Azumagawa, Hiroshi, Tamai
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 57(4)
It is unclear whether the incidence of febrile seizure (FS) in children with Down syndrome (DS) is higher or lower than in the general population. In this study, we investigated the incidence of FS in DS patients using mailed questionnaires.The quest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e52ee9afdacd0c02a4cd471633438db7
https://pubmed.ncbi.nlm.nih.gov/25676606
https://pubmed.ncbi.nlm.nih.gov/25676606
Publikováno v:
The Journal of Laryngology & Otology. 112:1069-1073
We studied the auditory brainstem response (ABR) and neuropathology in a female infant who died at six months of age because of typical infantile Gaucher's disease. The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83514f3922393f9b77cc6b446744cd7e
https://doi.org/10.1017/s0022215100142483
https://doi.org/10.1017/s0022215100142483
Autor:
Hideaki Yoshino, Toru Satoh, Shinobu Gamou, Yuki Aimi, Masae Ono, Akira Oka, Ryoji Yanagisawa, Keiichi Fukuda, Masaharu Kataoka
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 15(12)
The purpose of this study was to undertake thorough genetic analysis of the bone morphogenetic protein type 2 receptor (BMPR2) gene in patients with pulmonary arterial hypertension.We conducted a systematic analysis for larger gene rearrangements tog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855de769bc5f7dbb68a3399106c1ac7c
https://pubmed.ncbi.nlm.nih.gov/25356964
https://pubmed.ncbi.nlm.nih.gov/25356964
Autor:
Hironao Numabe, Akira Hata, Fumio Takada, Johji Inazawa, Rika Kosaki, Nana Okamoto, Yoshinori Aizu, Nobuhiko Okamoto, Kenji Kurosawa, Shozo Honda, Yasutsugu Chinen, Shinji Saitoh, Hiroshi Mitsubuchi, Yoshimitsu Fukushima, Mariko Yagi, Tomoki Kosho, Issei Imoto, Hirotaka Ohki, Hiroshi Matsumoto, Satoshi Araki, Hiroaki Ono, Fumio Endo, Yoshio Makita, Masae Ono, Seiji Mizuno, Shuki Mizutani, Shin Hayashi, Hiroshi Yoshihashi, Torayuki Okuyama
Publikováno v:
Journal of human genetics. 56(2)
Recent advances in the analysis of patients with congenital abnormalities using array-based comparative genome hybridization (aCGH) have uncovered two types of genomic copy-number variants (CNVs); pathogenic CNVs (pCNVs) relevant to congenital disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92467e88f55ae963ce562ffe28701e62
https://pubmed.ncbi.nlm.nih.gov/21228794
https://pubmed.ncbi.nlm.nih.gov/21228794