Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Chikage Yoshizawa"'
Autor:
Yoshimitsu Goto, Yuka Ikeuchi, Toshio Watanabe, Norishige Yoshikawa, Satoko Kakegawa, Hirokazu Arakawa, Chikage Yoshizawa, Koichi Nakanishi, Masahiko Tashiro, Yasuko Kobayashi
Publikováno v:
Pediatrics International. 58:1211-1215
Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF, associated with comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5403043474729cbf8568ea68e85c214
https://doi.org/10.1111/ped.13118
https://doi.org/10.1111/ped.13118
Autor:
Kenji Ichinomiya, Yoshihiko Shitara, Yasunari Sakai, Aya Inaba, Nobuhiko Okamoto, Kazuyori Yagyu, Naomichi Matsumoto, Kiyoko Sameshima, Adila Al-Kindy, Satoru Takeda, Yumi Habata, Masataka Hisano, Kunimasa Yan, Noriko Miyake, Toshifumi Suzuki, Masato Hiyane, Yasuko Kobayashi, Shuichi Ito, Hideaki Shiraishi, Mai Sato, Kazuhiro Haginoya, Seiji Mizuno, Noboru Fueki, Konomi Shimoda, Yuki Ueda, Kazuhiro Muramatsu, Yumiko Komatsu, Shigemi Kimura, Yu Tsuyusaki, Daisuke Ieda, Hiroshi Suzumura, Hirotomo Saitsu, Yoshinori Tsurusaki, Mitsuko Nakashima, Midori Nakajima, Shinji Saitoh, Kenji Kurosawa, Chikage Yoshizawa
Publikováno v:
Clinical Genetics. 90:526-535
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimagin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8657a4ee39674d237b4019ca3f4faafa
https://doi.org/10.1111/cge.12836
https://doi.org/10.1111/cge.12836
Autor:
Satoko Kakegawa, Toshio Watanabe, Izuho Hatada, Hirokazu Arakawa, Akira Aizawa, Chikage Yoshizawa, Takumi Takizawa, Hiromi Horiguchi, Akihiro Morikawa, Yasuko Kobayashi, Kenichi Maruyama, Yuka Ikeuchi
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Background DNA methylation of gene promoters is associated with transcriptional inactivation. Changes in DNA methylation can lead to differences in gene expression levels and thereby influence disease development. We hypothesized that epigenetics und
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a30aae736bdde33742723043e381b33f
https://doi.org/10.1007/s00467-012-2248-z
https://doi.org/10.1007/s00467-012-2248-z
Publikováno v:
European Journal of Dermatology. 20:208-210
A 5-year-old girl presented with a two-month-history of skin rash and general fatigue. She had a slight fever, progressive muscle weakness and liver dysfunction. Gottron's papules on her fingers and purple-reddish papules on her elbows were noted. Se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::161db2b9e603a586c9a8261853089bcb
https://doi.org/10.1684/ejd.2010.0846
https://doi.org/10.1684/ejd.2010.0846