Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan von Mishima, Hiroyuki, Suzuki, Hisato, Doi, Michiko, Miyazaki, Mutsuko, Watanabe, Satoshi, Matsumoto, Tadashi, Morifuji, Kanako, Moriuchi, Hiroyuki, Yoshiura, Koh-Ichiro, Kondoh, Tatsuro, Kosaki, Kenjiro

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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model von Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki

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A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome von Motokawa, Midori, Watanabe, Satoshi, Nakatomi, Akiko, Kondoh, Tatsuro, Matsumoto, Tadashi, Morifuji, Kanako, Sawada, Hirotake, Nishimura, Toyoki, Nunoi, Hiroyuki, Yoshiura, Koh-Ichiro, Moriuchi, Hiroyuki, Dateki, Sumito

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells von Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A, Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B, Vega, Hugo, Jackson, Laird G, Shirahige, Katsuhiko, Krantz, Ian D

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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome von Fuke, Tomoko, Mizuno, Seiji, Nagai, Toshiro, Hasegawa, Tomonobu, Horikawa, Reiko, Miyoshi, Yoko, Muroya, Koji, Kondoh, Tatsuro, Numakura, Chikahiko, Sato, Seiji, Nakabayashi, Kazuhiko, Tayama, Chiharu, Hata, Kenichiro, Sano, Shinichiro, Matsubara, Keiko, Kagami, Masayo, Yamazawa, Kazuki, Ogata, Tsutomu

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Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome von Dateki, Sumito, Kagami, Masayo, Matsubara, Keiko, Izumi, Kei, Watanabe, Satoshi, Nakatomi, Akiko, Kondoh, Tatsuro, Fukami, Maki, Moriuchi, Hiroyuki

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Effects of donepezil and serotonin reuptake inhibitor on acute regression during adolescence in Down syndrome von Tamasaki, Akiko, Saito, Yoshiaki, Ueda, Riyo, Ohno, Koyo, Yokoyama, Katsutoshi, Satake, Takahiro, Sakuma, Hiroshi, Takahashi, Yukitoshi, Kondoh, Tatsuro, Maegaki, Yoshihiro

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Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report von Ushijima, Takahiro, Kawaguchi, Kenichi, Matsumoto, Tadashi, Takagi, Masaki, Kondoh, Tatsuro, Nishimura, Gen, Iida, Aritoshi, Ikegawa, Shiro, Haga, Nobuhiko, Kato, Go

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia von Niihori, Tetsuya, Aoki, Yoko, Ohashi, Hirofumi, Kurosawa, Kenji, Kondoh, Tatsuro, Ishikiriyama, Satoshi, Kawame, Hiroshi, Kamasaki, Hotaka, Yamanaka, Tsutomu, Takada, Fumio, Nishio, Kimio, Sakurai, Masahiro, Tamai, Hiroshi, Nagashima, Tatsuro, Suzuki, Yoichi, Kure, Shigeo, Fujii, Kunihiro, Imaizumi, Masue, Matsubara, Yoichi

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Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia von Gohda, Yuji, Oka, Shohki, Matsunaga, Takamoto, Watanabe, Satoshi, Yoshiura, Koh‐ichiro, Kondoh, Tatsuro, Matsumoto, Tadashi

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Assessment of lower urinary tract function in children with Down syndrome von Kitamura, Atsuko, Kondoh, Tatsuro, Noguchi, Mitsuru, Hatada, Teppei, Tohbu, Shohei, Mori, Ken-ichi, Matsuo, Manabu, Kunitsugu, Ichiro, Kanetake, Hiroshi, Moriuchi, Hiroyuki

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Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome von Watanabe, Satoshi, Shimizu, Kenji, Ohashi, Hirofumi, Kosaki, Rika, Okamoto, Nobuhiko, Shimojima, Keiko, Yamamoto, Toshiyuki, Chinen, Yasutsugu, Mizuno, Seiji, Dowa, Yuri, Shiomi, Natsuko, Toda, Yoshihiro, Tashiro, Katsuya, Shichijo, Koichi, Minatozaki, Kazunori, Aso, Seijiro, Minagawa, Kyoko, Hiraki, Yoko, Shimokawa, Osamu, Matsumoto, Tadashi, Fukuda, Masafumi, Moriuchi, Hiroyuki, Yoshiura, Koh-ichiro, Kondoh, Tatsuro

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Miller syndrome with novel dihydroorotate dehydrogenase gene mutations von Kinoshita, Fumiko, Kondoh, Tatsuro, Komori, Kazuhiro, Matsui, Takeshi, Harada, Naoki, Yanai, Akinori, Fukuda, Masafumi, Morifuji, Kanako, Matsumoto, Tadashi

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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome von Kuniba, Hideo, Yoshiura, Koh-ichiro, Kondoh, Tatsuro, Ohashi, Hirofumi, Kurosawa, Kenji, Tonoki, Hidefumi, Nagai, Toshiro, Okamoto, Nobuhiko, Kato, Mitsuhiro, Fukushima, Yoshimitsu, Kaname, Tadashi, Naritomi, Kenji, Matsumoto, Tadashi, Moriuchi, Hiroyuki, Kishino, Tatsuya, Kinoshita, Akira, Miyake, Noriko, Matsumoto, Naomichi, Niikawa, Norio

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Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion von Kurotaki, Naohiro, Harada, Naoki, Shimokawa, Osamu, Miyake, Noriko, Kawame, Hiroshi, Uetake, Kimiaki, Makita, Yoshio, Kondoh, Tatsuro, Ogata, Tsutomu, Hasegawa, Tomoko, Nagai, Toshiro, Ozaki, Takao, Touyama, Mayumi, Shenhav, Ruthie, Ohashi, Hirofumi, Medne, Livija, Shiihara, Takashi, Ohtsu, Shigeyuki, Kato, Zen-ichiro, Okamoto, Nobuhiko, Nishimoto, Junji, Lev, Dorit, Miyoshi, Yoko, Ishikiriyama, Satoshi, Sonoda, Tohru, Sakazume, Satoru, Fukushima, Yoshimitsu, Kurosawa, Kenji, Cheng, Jan-Fang, Yoshiura, Koh-ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi

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Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism von Satoh, Chisei, Maekawa, Ryuta, Kinoshita, Akira, Mishima, Hiroyuki, Doi, Michiko, Miyazaki, Mutsuko, Fukuda, Masafumi, Takahashi, Haruo, Kondoh, Tatsuro, Yoshiura, Koh-ichiro

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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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Direct Evaluation of Salivary Antioxidant Properties in Patients with Down Syndrome for assessment to Periodontal Disease and Premature Aging von Aoki, Ryohei, Kobayashi, Kyo, Yokoyama, Shiori, Cheng, Chia-An, Mishima, Hiroyuki, Kondoh, Tatsuro, Komatsu, Tomoko, Lee, Masaichi Chang-il

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Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D von Kuniba, Hideo, Pooh, Ritsuko K., Sasaki, Kensaku, Shimokawa, Osamu, Harada, Naoki, Kondoh, Tatsuro, Egashira, Masanori, Moriuchi, Hiroyuki, Yoshiura, Koh-ichiro, Niikawa, Norio

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Spontaneous In Vivo Reversion of an Inherited Mutation in the Wiskott-Aldrich Syndrome von Ariga, Tadashi, Kondoh, Tatsuro, Yamaguchi, Koji, Yamada, Masafumi, Sasaki, Satoshi, Nelson, David L, Ikeda, Hisami, Kobayashi, Kunihiko, Moriuchi, Hiroyuki, Sakiyama, Yukio

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