Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Rika Kosaki"'
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Autor:
Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, Tetsuo Hattori, Yukako Muramatsu, Takanobu Inoue, Keiko Matsubara, Maki Fukami, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious varian
Externí odkaz:
https://doaj.org/article/6b5bfe603f204369b891655890db9f4d
Autor:
Kana Fukui, Shoichiro Amari, Nobuyuki Yotani, Rika Kosaki, Kenichiro Hata, Motomichi Kosuga, Haruhiko Sago, Tetsuya Isayama, Yushi Ito
Publikováno v:
American Journal of Perinatology Reports, Vol 13, Iss 01, Pp e25-e28 (2023)
We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate
Externí odkaz:
https://doaj.org/article/d0dbc1842f644e56b7d4b953145a0bdf
Autor:
Yuko Ichimiya, Yuka Wada, Shinji Kunishima, Keiko Tsukamoto, Rika Kosaki, Haruhiko Sago, Akira Ishiguro, Yushi Ito
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)
Abstract Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia. In 11q23 deletion syndrome, it
Externí odkaz:
https://doaj.org/article/109db934c5464902b3429fbfd8b47f06
Autor:
Yuka Murofushi, Itaru Hayakawa, Michiko Kawai, Yuichi Abe, Rika Kosaki, Hisato Suzuki, Toshiki Takenouchi, Masaya Kubota
Publikováno v:
Movement Disorders Clinical Practice. 10:719-721
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6289708a60f22a0e452ebdb7f3c95437
https://doi.org/10.1002/mdc3.13701
https://doi.org/10.1002/mdc3.13701
Autor:
Tadashi Shiohama, Katsunori Fujii, Rika Kosaki, Yoshimi Watanabe, Tomoko Uchida, Sho Hagiwara, Kaori Kinoshita, Katsuo Sugita, Yoko Aoki, Naoki Shimojo
Publikováno v:
American Journal of Medical Genetics Part A. 188:3505-3509
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8646c0e6b1f8f22fa5c5f8e06a5c5df
https://doi.org/10.1002/ajmg.a.62926
https://doi.org/10.1002/ajmg.a.62926
Autor:
Kaori Maruwaka, Yoko Nakajima, Takaharu Yamada, Taihei Tanaka, Rika Kosaki, Hidehito Inagaki, Kenjiro Kosaki, Hiroki Kurahashi
Publikováno v:
American Journal of Medical Genetics Part A. 188:2246-2250
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::474b65cd35cb2994ab552992ac013e12
https://doi.org/10.1002/ajmg.a.62733
https://doi.org/10.1002/ajmg.a.62733
Autor:
Ryosuke Urabe, Yuichi Abe, Rika Kosaki, Eriko Koshimizu, Satoko Miyatake, Naomichi Matsumoto, Mitsuhiro Kato, Masaya Kubota
Publikováno v:
Epilepsy & Seizure. 14:17-24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14327dceeb6f56c6e2780e2bd0e38448
https://doi.org/10.3805/eands.14.17
https://doi.org/10.3805/eands.14.17
Publikováno v:
Pediatrics International. 65
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1180dbb59360308550b12a27472352bf
https://doi.org/10.1111/ped.15405
https://doi.org/10.1111/ped.15405
Autor:
Toru Saito, Ken Okamura, Rika Kosaki, Kazumasa Wakamatsu, Shosuke Ito, Osamu Nakajima, Hidetoshi Yamashita, Yutaka Hozumi, Tamio Suzuki
Publikováno v:
Pigment Cell & Melanoma Research. 35:212-219
Oculocutaneous albinism (OCA) 6 is a non-syndromic type of OCA that has distinct ocular symptoms and variable cutaneous hypopigmentation. The causative gene of OCA6 is SLC24A5, which encodes NCKX5, a K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09988df13c7514fe15fe44daae4b7cc9
https://doi.org/10.1111/pcmr.13024
https://doi.org/10.1111/pcmr.13024
Autor:
Ai Hoshino, Yuka Murofushi, Eri Ohashi, Rika Kosaki, Masashi Mizuguchi, Naoko Kono, Itaru Hayakawa, Michiko Yoshida, Sato Suzuki-Muromoto, Masaya Kubota, Michiko Kawai, Yuichi Abe
Publikováno v:
Brain and Development. 43:873-878
Background Acute necrotizing encephalopathy (ANE) is a severe encephalopathy associated with acute viral infection. While most ANE cases are sporadic, pathogenic variants in the gene RAN binding protein 2 (RANBP2) have been identified as a major caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71df7577a25c64a32538337afb962b03
https://doi.org/10.1016/j.braindev.2021.04.009
https://doi.org/10.1016/j.braindev.2021.04.009