Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
Dai, J, Kim, O-H, Cho, T-J, Schmidt-Rimpler, M, Tonoki, H, Takikawa, K, Haga, N, Miyoshi, K, Kitoh, H, Yoo, W-J, Choi, I-H, Song, H-R, Jin, D-K, Kim, H-T, Kamasaki, H, Bianchi, P, Grigelioniene, G, Nampoothiri, S, Minagawa, M, Miyagawa, S-i, Fukao, T, Marcelis, C, Jansweijer, M C E, Hennekam, R C M, Bedeschi, F, Mustonen, A, Jiang, Q, Ohashi, H, Furuichi, T, Unger, S, Zabel, B, Lausch, E, Superti-Furga, A, Nishimura, G, Ikegawa, S
Published in Journal of medical genetics (01.10.2010)
Published in Journal of medical genetics (01.10.2010)
Get full text
Journal Article
Mutations in the TRKA /NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
Indo, Yasuhiro, Tsuruta, Motoko, Hayashida, Yumi, Karim, Mohammad Azharul, Ohta, Kohji, Kawano, Tomoyasu, Mitsubuchi, Hiroshi, Tonoki, Hidefumi, Awaya, Yutaka, Matsuda, Ichiro
Published in Nature genetics (01.08.1996)
Published in Nature genetics (01.08.1996)
Get full text
Journal Article
Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment
Nagai, T., Obata, K., Tonoki, H., Temma, S., Murakami, N., Katada, Y., Yoshino, A., Sakazume, S., Takahashi, E., Sakuta, R., Niikawa, N.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
Get full text
Journal Article
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan
Kuniba, H, Tsuda, M, Nakashima, M, Miura, S, Miyake, N, Kondoh, T, Matsumoto, T, Moriuchi, H, Ohashi, H, Kurosawa, K, Tonoki, H, Nagai, T, Okamoto, N, Kato, M, Fukushima, Y, Naritomi, K, Matsumoto, N, Kinoshita, A, Yoshiura, K-i, Niikawa, N
Published in Journal of medical genetics (01.07.2008)
Published in Journal of medical genetics (01.07.2008)
Get full text
Journal Article
Identification of an autoimmune enteropathy-related 75-kilodalton antigen
Kobayashi, I, Imamura, K, Kubota, M, Ishikawa, S, Yamada, M, Tonoki, H, Okano, M, Storch, W B, Moriuchi, T, Sakiyama, Y, Kobayashi, K
Published in Gastroenterology (New York, N.Y. 1943) (01.10.1999)
Published in Gastroenterology (New York, N.Y. 1943) (01.10.1999)
Get more information
Journal Article
A functional and quantitative mutational analysis of p53 mutations in yeast indicates strand biases and different roles of mutations in DMBA‐ and BBN‐induced tumors in rats
Yamamoto, K., Nakata, D., Tada, M., Tonoki, H., Nishida, T., Hirai, A., Ba, Y., Aoyama, T., Hamada, J.‐I., Furuuchi, K., Harada, H., Hirai, K., Shibahara, N., Katsuoka, Y., Moriuchi, T.
Published in International journal of cancer (15.03.2000)
Published in International journal of cancer (15.03.2000)
Get full text
Journal Article