Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Yoneda, Yuriko, Saitsu, Hirotomo, Touyama, Mayumi, Makita, Yoshio, Miyamoto, Akie, Hamada, Keisuke, Kurotaki, Naohiro, Tomita, Hiroaki, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Ogata, Kazuhiro, Naritomi, Kenji, Matsumoto, Naomichi
Published in Journal of human genetics (01.03.2012)
Published in Journal of human genetics (01.03.2012)
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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
Kurotaki, Naohiro, Shen, Joseph J., Touyama, Mayumi, Kondoh, Tatsuro, Visser, Remco, Ozaki, Takao, Nishimoto, Junji, Shiihara, Takashi, Uetake, Kimiaki, Makita, Yoshio, Harada, Naoki, Raskin, Salmo, Brown, Chester W., Höglund, Pia, Okamoto, Nobuhiko, Lupski, James R.
Published in Genetics in medicine (01.09.2005)
Published in Genetics in medicine (01.09.2005)
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Long‐term survival of children with cerebral palsy in Okinawa, Japan
TOUYAMA, MAYUMI, TOUYAMA, JUN, OCHIAI, YASUO, TOYOKAWA, SATOSHI, KOBAYASHI, YASUKI
Published in Developmental medicine and child neurology (01.05.2013)
Published in Developmental medicine and child neurology (01.05.2013)
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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome
Miyake, Noriko, Kurotaki, Naohiro, Sugawara, Hirobumi, Shimokawa, Osamu, Harada, Naoki, Kondoh, Tatsuro, Tsukahara, Masato, Ishikiriyama, Satoshi, Sonoda, Tohru, Miyoshi, Yoko, Sakazume, Satoru, Fukushima, Yoshimitsu, Ohashi, Hirofumi, Nagai, Toshiro, Kawame, Hiroshi, Kurosawa, Kenji, Touyama, Mayumi, Shiihara, Takashi, Okamoto, Nobuhiko, Nishimoto, Junji, Yoshiura, Ko-ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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