Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number... von Wakui, Keiko

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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2 von Hara-Isono, Kaori, Matsubara, Keiko, Hamada, Riku, Shimada, Shun, Yamaguchi, Tomomi, Wakui, Keiko, Miyazaki, Osamu, Muroya, Koji, Kurosawa, Kenji, Fukami, Maki, Ogata, Tsutomu, Kosho, Tomoki, Kagami, Masayo

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome von Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Ohashi, Hirofumi, Kosho, Tomoki, Imai, Yoko, Hibi-Ko, Yumiko, Kaname, Tadashi, Naritomi, Kenji, Kawame, Hiroshi, Wakui, Keiko, Fukushima, Yoshimitsu, Homma, Tomomi, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Mizuno, Seiji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Shiina, Masaaki, Ogata, Kazuhiro, Ohta, Tohru, Niikawa, Norio, Miyatake, Satoko, Okada, Ippei, Mizuguchi, Takeshi, Doi, Hiroshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients von Kawashima, Sayaka, Nakamura, Akie, Inoue, Takanobu, Matsubara, Keiko, Horikawa, Reiko, Wakui, Keiko, Takano, Kyoko, Fukushima, Yoshimitsu, Tatematsu, Toshi, Mizuno, Seiji, Tsubaki, Junko, Kure, Shigeo, Matsubara, Yoichi, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

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Frequency and clinical features of hearing loss caused by STRC deletions von Yokota, Yoh, Moteki, Hideaki, Nishio, Shin-ya, Yamaguchi, Tomomi, Wakui, Keiko, Kobayashi, Yumiko, Ohyama, Kenji, Miyazaki, Hiromitsu, Matsuoka, Rina, Abe, Satoko, Kumakawa, Kozo, Takahashi, Masahiro, Sakaguchi, Hirofumi, Uehara, Natsumi, Ishino, Takashi, Kosho, Tomoki, Fukushima, Yoshimitsu, Usami, Shin-ichi

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Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder von Nishizawa, Hitomi, Motobayashi, Mitsuo, Akahane, Miwa, Wakui, Keiko, Kitazawa, Noritaka, Inaba, Yuji, Fukushima, Yoshimitsu, Kosho, Tomoki

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Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system von Yamaguchi, Tomomi, Hayashi, Shujiro, Hayashi, Daisuke, Matsuyama, Takeshi, Koitabashi, Norimichi, Ogiwara, Kenichi, Noda, Masaaki, Nakada, Chiai, Fujiki, Shinya, Furutachi, Akira, Tanabe, Yasuhiko, Yamanaka, Michiko, Ishikawa, Aki, Mizukami, Miyako, Mizuguchi, Asako, Sugiura, Kazumitsu, Sumi, Makoto, Yamazawa, Hirokuni, Izawa, Atsushi, Wada, Yuko, Fujikawa, Tomomi, Takiguchi, Yuri, Wakui, Keiko, Takano, Kyoko, Nishio, Shin‐Ya, Kosho, Tomoki

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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome von Oda, Yoichiro, Uchiyama, Yuri, Motomura, Ai, Fujita, Atsushi, Azuma, Yoshiteru, Harita, Yutaka, Mizuguchi, Takeshi, Yanagi, Kumiko, Ogata, Hiroko, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Wakui, Keiko, Matsumoto, Naomichi

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Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in ear... von Takano, Kyoko, Shiba, Naoko, Wakui, Keiko, Yamaguchi, Tomomi, Aida, Noriko, Inaba, Yuji, Fukushima, Yoshimitsu, Kosho, Tomoki

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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature von Kosho, Tomoki, Okamoto, Nobuhiko, Ohashi, Hirofumi, Tsurusaki, Yoshinori, Imai, Yoko, Hibi-Ko, Yumiko, Kawame, Hiroshi, Homma, Tomomi, Tanabe, Saori, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Ohta, Tohru, Niikawa, Norio, Mizuno, Seiji, Kaname, Tadashi, Naritomi, Kenji, Narumi, Yoko, Wakui, Keiko, Fukushima, Yoshimitsu, Miyatake, Satoko, Mizuguchi, Takeshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi

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Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization von Moteki, Hideaki, Azaiez, Hela, Sloan-Heggen, Christina M., Booth, Kevin, Nishio, Shin-ya, Wakui, Keiko, Yamaguchi, Tomomi, Kolbe, Diana L., Iwasa, Yoh-ichiro, Shearer, A. Eliot, Fukushima, Yoshimitsu, Smith, Richard J.H., Usami, Shin-ichi

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Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients von Shimizu, Kenji, Okamoto, Nobuhiko, Miyake, Noriko, Taira, Katsuaki, Sato, Yumiko, Matsuda, Keiko, Akimaru, Noriko, Ohashi, Hirofumi, Wakui, Keiko, Fukushima, Yoshimitsu, Matsumoto, Naomichi, Kosho, Tomoki

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Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA -Associated Hearing Loss von Sugiyama, Kenjiro, Moteki, Hideaki, Kitajiri, Shin-Ichiro, Kitano, Tomohiro, Nishio, Shin-Ya, Yamaguchi, Tomomi, Wakui, Keiko, Abe, Satoko, Ozaki, Akiko, Motegi, Remi, Matsui, Hirooki, Teraoka, Masato, Kobayashi, Yumiko, Kosho, Tomoki, Usami, Shin-Ichi

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Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan von Tanaka, Keiko, Sekijima, Yoshiki, Yoshida, Kunihiro, Tamai, Mariko, Kosho, Tomoki, Sakurai, Akihiro, Wakui, Keiko, Ikeda, Shu-ichi, Fukushima, Yoshimitsu

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Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements von Stankiewicz, Paweł, Shaw, Christine J., Dapper, Jason D., Wakui, Keiko, Shaffer, Lisa G., Withers, Marjorie, Elizondo, Leah, Park, Sung-Sup, Lupski, James R.

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A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 von Yoshinaga, Tsuneaki, Nakamura, Katsuya, Ishikawa, Masumi, Yamaguchi, Tomomi, Takano, Kyoko, Wakui, Keiko, Kosho, Tomoki, Yoshida, Kunihiro, Fukushima, Yoshimitsu, Sekijima, Yoshiki

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Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization von Kawamura, Rie, Tanabe, Hideyuki, Wada, Takahito, Saitoh, Shinji, Fukushima, Yoshimitsu, Wakui, Keiko

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Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats von Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.

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A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: Altered l-serine level associated with disruption of PSAT1 gen... von Ozeki, Yuji, Pickard, Benjamin S., Kano, Shin-ichi, Malloy, Mary P., Zeledon, Mariela, Sun, Daniel Q., Fujii, Kumiko, Wakui, Keiko, Shirayama, Yukihiko, Fukushima, Yoshimitsu, Kunugi, Hiroshi, Hashimoto, Kenji, Muir, Walter J., Blackwood, Douglas H., Sawa, Akira

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Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract... von Yoshimura-Furuhata, Megumi, Nishimura-Tadaki, Akira, Amano, Yoshiro, Ehara, Takashi, Hamasaki, Yuko, Muramatsu, Masaki, Shishido, Seiichiro, Aikawa, Atsushi, Hamada, Riku, Ishikura, Kenji, Hataya, Hiroshi, Hidaka, Yoshihiko, Noda, Shunsuke, Koike, Kenichi, Wakui, Keiko, Fukushima, Yoshimitsu, Matsumoto, Naomichi, Awazu, Midori, Miyake, Noriko, Kosho, Tomoki

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