Books, Original Papers & Review Papers- AOKI Yoko -
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[B]:Books [O]:Original Papers [R]:Review Papers
total:162
[2019]
1.[O] Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome..[Endocrine journal,66(11),(2019),983-994]Yasuko Shoji, Shinobu Ida, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Yuri Etani, Masanobu Kawai
10.1507/endocrj.EJ18-0564
http://www.ncbi.nlm.nih.gov/pubmed/31292302
2.[O] Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm..[Circulation. Cardiovascular imaging,12(9),(2019),e009429-]Ogihara Y, Fujimoto N, Ohashi H, Yamamoto N, Ito H, Mitani Y, Aoki Y, Imanaka-Yosida K, Ito M, Dohi K
10.1161/CIRCIMAGING.119.009429
http://www.ncbi.nlm.nih.gov/pubmed/31451008
3.[O] Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis..[Orphanet journal of rare diseases,14(1),(2019),215]Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Toshiyuki Fukao
10.1186/s13023-019-1191-5
http://www.ncbi.nlm.nih.gov/pubmed/31511039
4.[R] NGSを用いた希少遺伝性疾患の研究やその医療への応用.[日本染色体遺伝子検査学会雑誌,37(2), (2019), 21]青木 洋子
5.[O] LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases..[Cell death and differentiation,(2019)]Taiki Abe, Ikumi Umeki, Shin-Ichiro Kanno, Shin-Ichi Inoue, Tetsuya Niihori, Yoko Aoki
10.1038/s41418-019-0395-5
http://www.ncbi.nlm.nih.gov/pubmed/31337872
6.[R] 【小児循環器領域の生涯包括遺伝医療】疾患各論 Noonan症候群の遺伝学.[小児科診療,82(7), (2019), 907-911]青木 洋子
7.[O] Biallelic GALM pathogenic variants cause a novel type of galactosemia..[Genetics in medicine : official journal of the American College of Medical Genetics,21(6),(2019),1286-1294]Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure
10.1038/s41436-018-0340-x
http://www.ncbi.nlm.nih.gov/pubmed/30451973
8.[O] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes..[Annals of neurology,85(6),(2019),927-933]Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Tadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure
10.1002/ana.25481
http://www.ncbi.nlm.nih.gov/pubmed/30945334
9.[O] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome..[American journal of human genetics,104(6),(2019),1233-1240]Tetsuya Niihori, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, Hirotaka Kihara, Thomas Arbogast, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Taiki Abe, Shin-Ichi Inoue, I-Chun Tsai, Naomichi Matsumoto, Erica E Davis, Nicholas Katsanis, Yoko Aoki
10.1016/j.ajhg.2019.04.014
http://www.ncbi.nlm.nih.gov/pubmed/31130285
10.[R] 【指定難病ペディア2019】個別の指定難病 染色体・遺伝子関連 コステロ症候群[指定難病104].[日本医師会雑誌,148(特別1), (2019), S310]青木 洋子
11.[R] 満期産脳性麻痺群の網羅的遺伝学的解析 17例中9例で候補遺伝子変異を同定.[日本小児科学会雑誌,123(6), (2019), 1069-1070]竹澤 祐介, 菊池 敦生, 萩野谷 和裕, 新堀 哲也, 沼田 有里佳[植松], 乾 健彦, 山村 菜絵子[鈴木], 宮林 拓矢, 安西 真衣, 鈴木 智[室本], 大久保 幸宗, 遠藤 若葉, 冨樫 紀子, 小林 康子, 大沼 晃, 舟山 亮, 城田 松之, 中山 啓子, 青木 洋子, 呉 繁夫
12.[R] 【指定難病ペディア2019】個別の指定難病 染色体・遺伝子関連 ヌーナン症候群[指定難病195].[日本医師会雑誌,148(特別1), (2019), S302-S303]青木 洋子
13.[O] Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome..[Journal of human genetics,64(5),(2019),499-504]Sato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, Saeko Yamamura-Suzuki, Mai Anzai, Yusuke Takezawa, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuo Kikuchi, Tetsuya Niihori, Yoko Aoki, Shigeo Kure, Kazuhiro Haginoya
10.1038/s10038-019-0579-3
http://www.ncbi.nlm.nih.gov/pubmed/30842599
14.[R] 大頭症、軽度運動発達遅滞、白質信号異常を呈し、PTEN遺伝子変異を認めた男児例.[脳と発達,51(Suppl.), (2019), S359]黒子 由梨香, 山本 薫, 横山 美奈, 代田 惇朗, 平林 真介, 真部 淳, 荻原 正明, 草川 功, 青木 洋子, 小崎 里華
15.[O] New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis..[EBioMedicine,42,(2019),43-53]Shingo Takahara, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, Katsuhisa Matsuura, Yasumi Nakashima, Tetsuya Niihori, Yoichi Matsubara, Yoshikatsu Saiki, Yoko Aoki
10.1016/j.ebiom.2019.03.014
http://www.ncbi.nlm.nih.gov/pubmed/30898653
16.[R] GALMの両アレル性変異はガラクトース血症IV型を呈する(Blallelic GALM pathogenic variants cause a novel type of galactosemia).[日本小児科学会雑誌,123(2), (2019), 280]和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 竹澤 祐介, 岩澤 伸哉, 新堀 哲也, 入月 浩美, 中島 葉子, 小川 えりか, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲也, 小原 収, 青木 洋子, 小柴 生造, 深尾 敏幸, 呉 繁夫
17.[R] 新規コステロ症候群モデルマウスを用いたエネルギー代謝変化の病態解明.[日本小児科学会雑誌,123(2), (2019), 284]大場 大樹, 中嶌 八隅, 新堀 哲也, 山口 清次, 松原 洋一, 青木 洋子, 井上 晋一, 宮川 幸子[富田]
18.[O] C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome..[Human molecular genetics,28(1),(2019),74-83]Inoue SI, Morozumi N, Yoshikiyo K, Maeda H, Aoki Y
10.1093/hmg/ddy333
http://www.ncbi.nlm.nih.gov/pubmed/30239744
19.[O] Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes..[Human genetics,138(1),(2019),21-35]Ikumi Umeki, Tetsuya Niihori, Taiki Abe, Shin-Ichiro Kanno, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Keisuke Nagasaki, Makoto Yoshida, Hirofumi Ohashi, Shin-Ichi Inoue, Yoichi Matsubara, Ikuma Fujiwara, Shigeo Kure, Yoko Aoki
10.1007/s00439-018-1951-7
http://www.ncbi.nlm.nih.gov/pubmed/30368668
[2018]
20.[O] Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.[Nature Communications,9,(2018)]Shazia Ashraf, Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. Van Der Ven, Johanna M. Schmidt, Boon Chuan Low, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant M. Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad A. Jairajpuri, Richard P. Lifton, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
10.1038/s41467-018-04193-w
http://www.scopus.com/inward/record.url?eid=85047275091&partnerID=40
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