Germline mutations in HRAS proto-oncogene cause Costello syndrome von Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo, Matsubara, Yoichi

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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation von Harada, N, Hatchwell, E, Okamoto, N, Tsukahara, M, Kurosawa, K, Kawame, H, Kondoh, T, Ohashi, H, Tsukino, R, Kondoh, Y, Shimokawa, O, Ida, T, Nagai, T, Fukushima, Y, Yoshiura, K, Niikawa, N, Matsumoto, N

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Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment von Kosho, Tomoki, Nakamura, Tomohiko, Kawame, Hiroshi, Baba, Atsushi, Tamura, Masanori, Fukushima, Yoshimitsu

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations von Aramaki, Michihiko, Udaka, Toru, Kosaki, Rika, Makita, Yoshio, Okamoto, Nobuhiko, Yoshihashi, Hiroshi, Oki, Hirotaka, Nanao, Kenji, Moriyama, Nobuko, Oku, Shozo, Hasegawa, Tomonobu, Takahashi, Takao, Fukushima, Yoshimitsu, Kawame, Hiroshi, Kosaki, Kenjiro

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Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and revie... von Kawame, H., Sugio, Yoko, Fuyama, Yuichi, Hayashi, Yoshihiro, Suzuki, Hideaki, Kurosawa, Kenji, Maekawa, Kihei

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A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients von KAWAME, H, ETO, Y

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome von Narumi, Yoko, Aoki, Yoko, Niihori, Tetsuya, Sakurai, Masahiro, Cavé, Hélène, Verloes, Alain, Nishio, Kimio, Ohashi, Hirofumi, Kurosawa, Kenji, Okamoto, Nobuhiko, Kawame, Hiroshi, Mizuno, Seiji, Kondoh, Tatsuro, Addor, Marie-Claude, Coeslier-Dieux, Anne, Vincent-Delorme, Catherine, Tabayashi, Koichi, Aoki, Masashi, Kobayashi, Tomoko, Guliyeva, Afag, Kure, Shigeo, Matsubara, Yoichi

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations von Ida, H., Rennert, O. M., Kawame, H., Maekawa, K., Eto, Y.

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Phenotypic spectrum and management issues in Kabuki syndrome von Kawame, Hiroshi, Hannibal, Mark C., Hudgins, Louanne, Pagon, Roberta A.

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BAC array CGH reveals genomic aberrations in idiopathic mental retardation von Miyake, Noriko, Shimokawa, Osamu, Harada, Naoki, Sosonkina, Nadia, Okubo, Aiko, Kawara, Hiroki, Okamoto, Nobuhiko, Kurosawa, Kenji, Kawame, Hiroshi, Iwakoshi, Mie, Kosho, Tomoki, Fukushima, Yoshimitsu, Makita, Yoshio, Yokoyama, Yuji, Yamagata, Takanori, Kato, Mitsuhiro, Hiraki, Yoko, Nomura, Masayo, Yoshiura, Ko-ichiro, Kishino, Tatsuya, Ohta, Tohru, Mizuguchi, Takeshi, Niikawa, Norio, Matsumoto, Naomichi

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A mild variant of Desbuquois dysplasia von NISHIMURA, G, HONG, H. S, KAWAME, H, SATO, S, CAI, G, OZONO, K

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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease von IDA, H, RENNERT, O. M, KAWAME, H, ITO, T, MAEKAWA, K, ETO, Y

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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome von Kurosawa, Kenji, Kawame, Hiroshi, Okamoto, Nobuhiko, Ochiai, Yukikatsu, Akatsuka, Akira, Kobayashi, Masahisa, Shimohira, Masayuki, Mizuno, Seiji, Wada, Kazuko, Fukushima, Yoshimitsu, Kawawaki, Hisashi, Yamamoto, Toshiyuki, Masuno, Mitsuo, Imaizumi, Kiyoshi, Kuroki, Yoshikazu

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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome von 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

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Elevated catecholamine metabolites in patients with Costello syndrome von Gripp, Karen W., Kawame, Hiroshi, Viskochil, David H., Nicholson, Linda

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Further delineation of the behavioral and neurologic features in Costello syndrome von Kawame, Hiroshi, Matsui, Mihoko, Kurosawa, Kenji, Matsuo, Mari, Masuno, Mitsuo, Ohashi, Hirofumi, Fueki, Noboru, Aoyama, Kouki, Miyatsuka, Yukiko, Suzuki, Kaoru, Akatsuka, Akira, Ochiai, Yukikatsu, Fukushima, Yoshimitsu

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Graves' disease in patients with 22q11.2 deletion von Kawame, Hiroshi, Adachi, Masanori, Tachibana, Katsuhiko, Kurosawa, Kenji, Ito, Fumiyuki, Gleason, Marie M., Weinzimer, Stuart, Levitt-Katz, Lorraine, Sullivan, Kathleen, McDonald-McGinn, Donna M.

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Very Late DNA Replication in the Human Cell Cycle von Widrow, R. J., Hansen, R. Scott, Kawame, Hiroshi, Gartler, Stanley M., Laird, Charles D.

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Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci von Kawame, Hiroshi, Gartler, Stanley M., Hansen, R.Scott

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Gonadal sex cord stromal tumor in a patient with Rubinstein−Taybi syndrome von Kurosawa, Kenji, Fukutani, Keiko, Masuno, Mitsuo, Kawame, Hiroshi, Ochiai, Yukikatsu

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