Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan
Kobayashi, Kazuhiro, Kato, Reiko, Kondo-Iida, Eri, Taniguchi-Ikeda, Mariko, Osawa, Makiko, Saito, Kayoko, Toda, Tatsushi
Published in Journal of human genetics (01.11.2017)
Published in Journal of human genetics (01.11.2017)
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Journal Article
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
Toda, Tatsushi, Kobayashi, Kazuhiro, Nakahori, Yutaka, Miyake, Masashi, Matsumura, Kiichiro, Kondo-Iida, Eri, Nomura, Yoshiko, Segawa, Masaya, Yoshioka, Mieko, Saito, Kayoko, Osawa, Makiko, Hamano, Kenzo, Sakakihara, Youichi, Nonaka, Ikuya, Nakagome, Yasuo, Kanazawa, Ichiro, Nakamura, Yusuke, Tokunaga, Katsushi
Published in Nature (London) (23.07.1998)
Published in Nature (London) (23.07.1998)
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Journal Article
A case of Walker–Warburg syndrome
Asano, Yumi, Minagawa, Kyoko, Okuda, Akemi, Matsui, Tomoyoshi, Ando, Kumiko, Kondo-Iida, Eri, Kobayashi, Osamu, Toda, Tatsushi, Nonaka, Ikuya, Tanizawa, Takakuni
Published in Brain & development (Tokyo. 1979) (01.10.2000)
Published in Brain & development (Tokyo. 1979) (01.10.2000)
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Journal Article
Novel Mutations and Genotype-Phenotype Relationships in 107 Families With Fukuyama-Type Congenital Muscular Dystrophy (FCMD)
Kondo-Iida, Eri, Kobayashi, Kazuhiro, Watanabe, Masashi, Sasaki, Junko, Kumagai, Toshiyuki, Koide, Hiroyoshi, Saito, Kayoko, Osawa, Makiko, Nakamura, Yusuke, Toda, Tatsushi
Published in Human molecular genetics (01.11.1999)
Published in Human molecular genetics (01.11.1999)
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Journal Article
The Fukuyama congenital muscular dystrophy story
Toda, Tatsushi, Kobayashi, Kazuhiro, Kondo-Iida, Eri, Sasaki, Junko, Nakamura, Yusuke
Published in Neuromuscular Disorders (01.03.2000)
Published in Neuromuscular Disorders (01.03.2000)
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Book Review
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Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin
Kobayashi, Kazuhiro, Sasaki, Junko, Kondo-Iida, Eri, Fukuda, Yoji, Kinoshita, Moritoshi, Sunada, Yoshihide, Nakamura, Yusuke, Toda, Tatsushi
Published in FEBS letters (02.02.2001)
Published in FEBS letters (02.02.2001)
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Journal Article
Prenatal diagnosis of Fukuyama type congenital muscular dystrophy in eight Japanese families by haplotype analysis using new markers closest to the gene
Saito, K, Kondo-Iida, E, Kawakita, Y, Juan, D, Ikeya, K, Osawa, M, Fukuyama, Y, Toda, T, Nakabayashi, M, Yamamoto, T, Kobayashi, M
Published in American journal of medical genetics (26.05.1998)
Published in American journal of medical genetics (26.05.1998)
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Neuronal expression of the fukutin gene
SASAKI, Junko, ISHIKAWA, Kinya, KOBAYASHI, Kazuhiro, KONDO-IIDA, Eri, FUKAYAMA, Masahisa, MIZUSAWA, Hidehiro, TAKASHIMA, Sachio, SAKAKIHARA, Yoichi, NAKAMURA, Yusuke, TODA, Tatsushi
Published in Human molecular genetics (12.12.2000)
Published in Human molecular genetics (12.12.2000)
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Journal Article
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy
KONDO-IIDA, E, SAITO, K, TANAKA, H, TSUJI, S, ISHIHARA, T, OSAWA, M, FUKUYAMA, Y, TODA, T
Published in Human genetics (01.04.1997)
Published in Human genetics (01.04.1997)
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Journal Article
Walker–Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy
Chadani, Yuko, Kondoh, Tatsuro, Kamimura, Naohisa, Matsumoto, Tadashi, Matsuzaka, Tetsuo, Kobayashi, Osamu, Kondo-Iida, Eri, Kobayashi, Kazuhiro, Nonaka, Ikuya, Toda, Tatsushi
Published in Journal of the neurological sciences (15.08.2000)
Published in Journal of the neurological sciences (15.08.2000)
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Journal Article
Molecular evidence of clinical heterogeneity in Fukuyama type congenital muscular dystrophy
Saito, Kayoko, Kondo-Iida, Eri, Kawakita, Yukiko, Ikeya, Kiyoko, Ishihara, Tadayuki, Toda, Tatsushi, Osawa, Makiko, Fukuyama, Yukio
Published in Neuromuscular disorders : NMD (01.09.1997)
Published in Neuromuscular disorders : NMD (01.09.1997)
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Journal Article
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy
Saito, K, Osawa, M, Wang, Z P, Ikeya, K, Fukuyama, Y, Kondo-Iida, E, Toda, T, Ohashi, H, Kurosawa, K, Wakai, S, Kaneko, K
Published in American journal of medical genetics (29.05.2000)
Published in American journal of medical genetics (29.05.2000)
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