Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan

Autor: Mikami-Saito, Yasuko, Wada, Yoichi, Arai-Ichinoi, Natsuko, Nakajima, Yoko, Suzuki-Ajihara, Sayaka, Murayama, Kei, Tanaka, Toju, Numakura, Chikahiko, Hamazaki, Takashi, Igarashi, Noboru, Esaki, Hiroyuki, Kagawa, Reiko, Kono, Tomotaka, Sawada, Takaaki, Sawada, Tomo, Nyuzuki, Hiromi, Hirai, Hiroki, Fumoto, Seiko, Matsuda, Junko, Matsunaga, Ayako, Maruyama, Shinsuke, Yamaguchi, Kenichiro, Yoshino, Miwa, Totsune, Eriko, Kikuchi, Atsuo, Ohura, Toshihiro, Kure, Shigeo

Publikováno v: In Genetics in Medicine August 2024 26(8)

A case of Potter sequence with WT1 mutation.

Autor: Yoshino, Miwa, Shimabukuro, Wataru, Takeichi, Mina, Omura, Junya, Yokota, Chie, Yamamoto, Junko, Nakanishi, Koichi, Morisada, Naoya, Nozu, Kandai, Iijima, Kazumoto, Takahashi, Yasuhiko

Publikováno v: CEN Case Reports; May2023, Vol. 12 Issue 2, p184-188, 5p

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Common risk variants in NPHS1and TNFSF15are associated with childhood steroid-sensitive nephrotic syndrome

Autor: Jia, Xiaoyuan, Yamamura, Tomohiko, Gbadegesin, Rasheed, McNulty, Michelle T., Song, Kyuyong, Nagano, China, Hitomi, Yuki, Lee, Dongwon, Aiba, Yoshihiro, Khor, Seik-Soon, Ueno, Kazuko, Kawai, Yosuke, Nagasaki, Masao, Noiri, Eisei, Horinouchi, Tomoko, Kaito, Hiroshi, Hamada, Riku, Okamoto, Takayuki, Kamei, Koichi, Kaku, Yoshitsugu, Fujimaru, Rika, Tanaka, Ryojiro, Shima, Yuko, Araki, Yoshinori, Nagaoka, Yoshinobu, Okamoto, Takayuki, Sato, Yasuyuki, Hayashi, Asako, Takahashi, Toshiyuki, Aoyagi, Hayato, Ueno, Michihiko, Nakanishi, Masanori, Toita, Nariaki, Uetake, Kimiaki, Kobayashi, Norio, Fujita, Shoji, Tsuruga, Kazushi, Kumagai, Naonori, Kudo, Hiroki, Tanaka, Eriko, Omori, Tae, Okada, Mari, Hatai, Yoshiho, Udagawa, Tomohiro, Motoyoshi, Yaeko, Ishikura, Kenji, Kamei, Koichi, Ogura, Masao, Sato, Mai, Kano, Yuji, Hattori, Motoshi, Miura, Kenichiro, Harita, Yutaka, Kanda, Shoichiro, Sawanobori, Emi, Kobayashi, Anna, Kojika, Manabu, Ohwada, Yoko, Yan, Kunimasa, Hataya, Hiroshi, Hamada, Riku, Terano, Chikako, Harada, Ryoko, Hamasaki, Yuko, Hashimoto, Junya, Ito, Shuichi, Machida, Hiroyuki, Inaba, Aya, Matsuyama, Takeshi, Goto, Miwa, Shimizu, Masaki, Ohta, Kazuhide, Ikezumi, Yohei, Yamada, Takeshi, Suzuki, Toshiaki, Tamamura, Soichi, Mori, Yukiko, Hidaka, Yoshihiko, Matsuoka, Daisuke, Kinoshita, Tatsuya, Noda, Shunsuke, Kitahara, Masashi, Fujita, Naoya, Hibino, Satoshi, Iijima, Kazumoto, Nozu, Kandai, Kaito, Hiroshi, Minamikawa, Shogo, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Nakanishi, Keita, Fujimura, Junya, Sakakibara, Nana, Aoto, Yuya, Ishiko, Shinya, Tanaka, Ryojiro, Kanda, Kyoko, Inaguma, Yosuke, Hashimura, Yuya, Ishimori, Shingo, Kamiyoshi, Naohiro, Shibano, Takayuki, Takeshima, Yasuhiro, Fujimaru, Rika, Ueda, Hiroaki, Ashida, Akira, Matsumura, Hideki, Kubota, Takuo, Kitaoka, Taichi, Okuda, Yusuke, Sawai, Toshihiro, Sakai, Tomoyuki, Shima, Yuko, Hama, Taketsugu, Fujieda, Mikiya, Ishihara, Masayuki, Itoh, Shigeru, Iwaki, Takuma, Shimizu, Maki, Nagatani, Koji, Kagami, Shoji, Urushihara, Maki, Kaku, Yoshitsugu, Nishimura, Manao, Yoshino, Miwa, Hatae, Ken, Hinokiyama, Maiko, Kuroki, Rie, Ohtsuka, Yasufumi, Oka, Masafumi, Nishimura, Shinji, Sato, Tadashi, Tanaka, Seiji, Zaitsu, Ayuko, Nakazato, Hitoshi, Tamura, Hiroshi, Nakanishi, Koichi, Baek, Jiwon, Kang, Hee Gyung, Ha, Il-Soo, Han, Kyoung Hee, Yang, Eun Mi, Cho, Min Hyun, Ha, Tae-Sun, Cheong, Hae Il, Kang, Hee Gyung, Ha, Il-Soo, Kim, Ji Hyun, Park, Peong Gang, Cho, Myung Hyun, Han, Kyoung Hee, Yang, Eun Mi, Abeyagunawardena, Asiri, Lane, Brandon, Chryst-Stangl, Megan, Esezobor, Christopher, Solarin, Adaobi, Quiroga, Alejandro, Moudgil, Asha, Chavers, Blanche, Kwon, Charles, Bowers, Corinna, Gipson, Deb, Chand, Deepa, Weaver, Donald Jack, Abraham, Elizabeth, Janjua, Halima, Lin, Jen-Jar, Greenbaum, Larry, Kallash, Mahmoud, Rheault, Michelle, De Jeus Gonzalez, Nilka, Brophy, Patrick, Gbadegesin, Rasheed, Nagaraj, Shashi, Massengill, Susan, Srivastava, Tarak, Hunley, Tray, Cai, Yi, Omoloja, Abiodun, Silva, Cynthia, Adeyemo, Adebowale, Thalgahagoda, Shenal, Kari, Jameela A., El Desoky, Sherif, Dossier, Claire, Deschênes, Georges, Abdelhadi, Mohammed, Akil, Rachida, Azib, Sonia, Basmaci, Romain, Benoist, Gregoire, Bensaid, Philippe, Blanc, Philippe, Boyer, Olivia, Bucher, Julie, Chace, Anne, Chalvon, Arnaud, Cheminee, Marion, Chendjou, Sandrine, Daoud, Patrick, Deschênes, Georges, Dossier, Claire, Elias, Ossam, Gagliadone, Chantal, Gajdos, Vincent, Galerne, Aurélien, Aigrain, Evelyne Jacqz, Sanchez, Lydie Joly, Khaled, Mohamed, Khelfaoui, Fatima, Laoudi, Yacine, Larakeb, Anis, Limani, Tarek, Mahdi, Fouad, Mandelcwaijg, Alexis, Muller, Stephanie, Nacer, Kacem, Nathanson, Sylvie, Pellegrino, Béatrice, Pharaon, Isabelle, Roudault, Véronica, Rouget, Sébastien, Saf, Marc, Simon, Tabassom, Tahiri, Cedric, Ulinski, Tim, Zenkhri, Férielle, Vivarelli, Marina, Debiec, Hanna, Ishikura, Kenji, Matsuo, Masafumi, Nozu, Kandai, Ronco, Pierre, Cheong, Hae Il, Sampson, Matthew G., Tokunaga, Katsushi, Iijima, Kazumoto

Publikováno v: Kidney International; November 2020, Vol. 98 Issue: 5 p1308-1322, 15p