Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Kiyotaka Tomiwa"'
Autor:
Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi Hagiwara
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood
Externí odkaz:
https://doaj.org/article/53c7fed34ca64f7ab935c60947b44e90
Autor:
Satoshi Okazaki, Ryo Kimura, Ikuo Otsuka, Kiyotaka Tomiwa, Yasuko Funabiki, Masatoshi Hagiwara, Toshiya Murai, Akitoyo Hishimoto
Publikováno v:
Journal of Child Psychology and Psychiatry. 63:1553-1562
Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion at the 7q11.23 region and is characterized by diverse symptoms encompassing physical and cognitive features. WS was reported to be associated to altered DNA methylation (DNAm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c3c6df6c3c74d3329d7ccb95367884
https://doi.org/10.1111/jcpp.13613
https://doi.org/10.1111/jcpp.13613
Autor:
Masahiro Hirai, Kosuke Asada, Takeo Kato, Takahiro Ikeda, Yoko Hakuno, Ayaka Ikeda, Kanae Matsushima, Tomonari Awaya, Shin Okazaki, Toshihiro Kato, Yasuko Funabiki, Toshiya Murai, Toshio Heike, Masatoshi Hagiwara, Takanori Yamagata, Kiyotaka Tomiwa, Ryo Kimura
Publikováno v:
Journal of Autism and Developmental Disorders.
This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1369b4f1b2aef40b48613dd721a00312
https://doi.org/10.1007/s10803-022-05740-7
https://doi.org/10.1007/s10803-022-05740-7
Autor:
Mari Hasegawa, Hajime Kin, Midori Shima, Chiharu Kawaguchi, Masaru Kubota, Kiyotaka Tomiwa, Keiji Nogami, Yukie Higashiyama
Publikováno v:
Brain and Development. 42:738-746
Background Children with severe motor and intellectual disabilities (SMID) are at a high risk of malnutrition and often require tube feeding to maintain their nutritional status. However, determining their energy requirements is difficult since inade
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb630f7f677d34fb89e52e3cfc12e532
https://doi.org/10.1016/j.braindev.2020.06.009
https://doi.org/10.1016/j.braindev.2020.06.009
Autor:
Masahiro Hirai, Kosuke Asada, Takeo Kato, Takahiro Ikeda, Yoko Hakuno, Ayaka Ikeda, Kanae Matsushima, Tomonari Awaya, Shin Okazaki, Toshihiro Kato, Yasuko Funabiki, Toshiya Murai, Toshio Heike, Masatoshi Hagiwara, Takanori Yamagata, Kiyotaka Tomiwa, Ryo Kimura
Publikováno v:
Journal of Autism and Developmental Disorders. 53:1737-1737
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a06848f5ee4bdfd518855d32eecca75
https://doi.org/10.1007/s10803-022-05810-w
https://doi.org/10.1007/s10803-022-05810-w
Autor:
Akira Kinoshita, Tatsuya Kishino, Ryoichi Mori, Naoko Asahina, Yutaka Negishi, Hideaki Shiraishi, Kana Hosoki, Koh-ichiro Yoshiura, Masahiro Nakashima, Kiyotaka Tomiwa, Katsuya Matsuda, Shinji Saitoh, Hiroyuki Mishima, Naoko Ishihara, Susumu Tanimura, Kaname Ohyama
Publikováno v:
Development. 148
Mutations in ITPR1 cause ataxia and aniridia in individuals with Gillespie syndrome (GLSP). However, the pathogenic mechanisms underlying aniridia remain unclear. We identified a de novo GLSP mutation hotspot in the 3′-region of ITPR1 in five indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e41fcef1d28db166ddd512ce170472
https://doi.org/10.1242/dev.188755
https://doi.org/10.1242/dev.188755
Autor:
Benjamin Navet, Renee Perrier, Kiyotaka Tomiwa, Alexander Pepler, Hui Xi, Adele Schneider, Xiao Mao, Ryan J. Taft, Paul Rollier, Alban Ziegler, Roberto Colombo, Noriko Miyake, Emmanuel Scalais, Katrien Stouffs, Estelle Colin, Denise L. Perry, Adeline Vanderver, Nobuhiko Okamoto, Magalie Barth, Li Shu, Elizabeth Wohler, Louise Amlie-Wolf, Hainan Zhang, Alessandro Serretti, Naomichi Matsumoto, Dominique Bonneau, Hua Wang, Omar Sherbini, Alka Malhotra, Nara Sobreira, Alessandra Ferrarini
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩
ObjectiveTo determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes.MethodsHere we describe a series of de novo missense variants in LMBRD2 in 10 unrelated individ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8242650886f34b5e055c94a2bd396a
http://hdl.handle.net/11585/851070
http://hdl.handle.net/11585/851070
Autor:
Mari Hasegawa, Naoko Ishikawa, Midori Shima, Keiji Nogami, Chiharu Kawaguchi, Kiyotaka Tomiwa, Ryohei Kobayashi
Publikováno v:
Clinical Pediatric Endocrinology
Selenium, one of the essential trace minerals, is present in vivo in form of selenoproteins. Iodothyronine deiodinase, a selenoprotein, is involved in the activation and inactivation of thyroid hormone. Therefore, patients with selenium deficiency ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98dda22a2242fc0f1529bcda4bafb8e0
https://pubmed.ncbi.nlm.nih.gov/33446948
https://pubmed.ncbi.nlm.nih.gov/33446948
Autor:
Alka, Malhotra, Alban, Ziegler, Li, Shu, Renee, Perrier, Louise, Amlie-Wolf, Elizabeth, Wohler, Nara, Lygia de Macena Sobreira, Estelle, Colin, Adeline, Vanderver, Omar, Sherbini, Katrien, Stouffs, Emmanuel, Scalais, Alessandro, Serretti, Magalie, Barth, Benjamin, Navet, Paul, Rollier, Hui, Xi, Hua, Wang, Hainan, Zhang, Denise L, Perry, Alessandra, Ferrarini, Roberto, Colombo, Alexander, Pepler, Adele, Schneider, Kiyotaka, Tomiwa, Nobuhiko, Okamoto, Naomichi, Matsumoto, Noriko, Miyake, Ryan, Taft, Xiao, Mao, Dominique, Bonneau
Publikováno v:
Journal of medical genetics. 58(10)
To determine the potential disease association between variants inHere we describe a series of de novo missense variants inThese findings indicate that rare de novo variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60038fd6ea5b2679d2f32ef07ed81f15
https://pubmed.ncbi.nlm.nih.gov/32820033
https://pubmed.ncbi.nlm.nih.gov/32820033
Autor:
Ryo Kimura, Ryo Inoue, Shin Okazaki, Takeo Kato, Masatoshi Nakata, Kiyotaka Tomiwa, Masatoshi Hagiwara, Toshio Heike, Shiho Suzuki, Tomonari Awaya
Publikováno v:
Psychoneuroendocrinology. 115
Williams syndrome (WS) is caused by a microdeletion of chromosome 7q11.23, and is characterized by various physical and cognitive symptoms. In particular, WS is characterized by hypersocial (overfriendly) behavior; WS has gained attention as aspects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be484410f155966d32845bf1b139b8ce
https://pubmed.ncbi.nlm.nih.gov/32114409
https://pubmed.ncbi.nlm.nih.gov/32114409