Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome
Ohtsuka, Y., Higashimoto, K., Sasaki, K., Jozaki, K., Yoshinaga, H., Okamoto, N., Takama, Y., Kubota, A., Nakayama, M., Yatsuki, H., Nishioka, K., Joh, K., Mukai, T., Yoshiura, K.-i., Soejima, H.
Published in Clinical genetics (01.09.2015)
Published in Clinical genetics (01.09.2015)
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Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome
Sasaki, K, Okamoto, N, Kosaki, K, Yorifuji, T, Shimokawa, O, Mishima, H, Yoshiura, K-i, Harada, N
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome
Matsuzawa, N, Nagao, T, Shimozato, K, Niikawa, N, Yoshiura, K-i
Published in Journal of clinical pathology (01.10.2006)
Published in Journal of clinical pathology (01.10.2006)
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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan
Kuniba, H, Tsuda, M, Nakashima, M, Miura, S, Miyake, N, Kondoh, T, Matsumoto, T, Moriuchi, H, Ohashi, H, Kurosawa, K, Tonoki, H, Nagai, T, Okamoto, N, Kato, M, Fukushima, Y, Naritomi, K, Matsumoto, N, Kinoshita, A, Yoshiura, K-i, Niikawa, N
Published in Journal of medical genetics (01.07.2008)
Published in Journal of medical genetics (01.07.2008)
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Transforming Growth Factor-α (TGFA): Genomic Structure, Boundary Sequences, and Mutation Analysis in Nonsyndromic Cleft Lip/Palate and Cleft Palate Only
Machida, Junichiro, Yoshiura, Koh-ichiro, Funkhauser, Carrie D., Natsume, Nagato, Kawai, Tsuyoshi, Murray, Jeffrey C.
Published in Genomics (San Diego, Calif.) (01.11.1999)
Published in Genomics (San Diego, Calif.) (01.11.1999)
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Microdissection and Microcloning of Genomic DNA Markers from Human Chromosomal Region 11q23
Seki, Naohiko, Yamauchi, Masatake, Saito, Toshiyuki, Katakura, Reiko, Ohta, Tohru, Yoshiura, Koh-Ichiro, Jinno, Yoshihiro, Niikawa, Norio, Hori, Tada-Aki
Published in Genomics (San Diego, Calif.) (01.04.1993)
Published in Genomics (San Diego, Calif.) (01.04.1993)
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Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family
Ghadami, M, Majidzadeh-A, K, Haerian, B S, Damavandi, E, Yamada, K, Pasallar, P, Najafi, M T, Nishimura, G, Tomita, H A, Yoshiura, K I, Niikawa, N
Published in American journal of medical genetics (22.11.2001)
Published in American journal of medical genetics (22.11.2001)
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A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome
YOSHIURA, K.-I, KUBOTA, T, SOEJIMA, H, TAMURA, T, IZUMIKAWA, Y, NIIKAWA, N, JINNO, Y
Published in Genomics (San Diego, Calif.) (15.03.1994)
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Published in Genomics (San Diego, Calif.) (15.03.1994)
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P2-06-01: Genomic Instability in Breast Cancers from Atomic Bomb Survivors: An Analysis of Microarray-Comparative Genomic Hybridization with Old Archival Tissues
Oikawa, M, Yoshiura, K-I, Kondo, H, Miura, S, Kurashige, T, Nagayasu, T, Yano, H, Nakashima, M
Published in Cancer research (Chicago, Ill.) (15.12.2011)
Published in Cancer research (Chicago, Ill.) (15.12.2011)
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Association between Breast Cancer Risk and the Wild-type Allele of Human ABC Transporter ABCC11
OTA, Ikuko, SAKURAI, Aki, YOSHIURA, Koh-Ichiro, TOGO, Shinji, HAYASHIZAKI, Yoshihide, ISHIKAWA, Takashi, ISHIKAWA, Toshihisa, ENDO, Itaru, SHIMADA, Hiroshi, TOYODA, Y. U, MORITA, Satoshi, SASAKI, Takeshi, CHISHIMA, Takashi, YAMAKADO, Minoru, KAWAI, Yuki, ISHIDAO, Takefumi, LEZHAVA, Alexander
Published in Anticancer research (01.12.2010)
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Published in Anticancer research (01.12.2010)
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Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1
Soejima, Hidenobu, Fujimoto, Masahiro, Tsukamoto, Kazuhiro, Matsumoto, Naomichi, Yoshiura, Koh-Ichiro, Fukushima, Yoshimitsu, Jinno, Yoshihiro, Niikawa, Norio
Published in Human mutation (1997)
Published in Human mutation (1997)
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A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1
Miura, Kiyonori, Miura, Shoko, Yoshiura, Koh-ichiro, Seminara, Stephanie, Hamaguchi, Daisuke, Niikawa, Norio, Masuzaki, Hideaki
Published in Human reproduction (Oxford) (01.04.2010)
Published in Human reproduction (Oxford) (01.04.2010)
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A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland
MIURA, Kiyonori, YOSHIURA, Koh-Ichiro, MIURA, Shako, SHIMADA, Takako, YAMASAKI, Kentaro, YOSHIDA, Atsushi, NAKAYAMA, Daisuke, SHIBATA, Yoshisada, NIIKAWA, Norio, MASUZAKI, Hideaki
Published in Human genetics (01.06.2007)
Published in Human genetics (01.06.2007)
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Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate
Zucchero, Theresa M, Cooper, Margaret E, Maher, Brion S, Daack-Hirsch, Sandra, Nepomuceno, Buena, Ribeiro, Lucilene, Caprau, Diana, Christensen, Kaare, Suzuki, Yasushi, Machida, Junichiro, Natsume, Nagato, Yoshiura, Koh-Ichiro, Vieira, Alexandre R, Orioli, Ieda M, Castilla, Eduardo E, Moreno, Lina, Arcos-Burgos, Mauricio, Lidral, Andrew C, Field, L. Leigh, Liu, You-e, Ray, Ajit, Goldstein, Toby H, Schultz, Rebecca E, Shi, Min, Johnson, Marla K, Kondo, Shinji, Schutte, Brian C, Marazita, Mary L, Murray, Jeffrey C
Published in The New England journal of medicine (19.08.2004)
Published in The New England journal of medicine (19.08.2004)
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The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain
KAYASHIMA, Tomohiko, YAMASAKI, Kentaro, ISHINO, Fumitoshi, NIIKAWA, Norio, KISHINO, Tatsuya, YAMADA, Takahiro, SAKAI, Hideki, MIWA, Nobutomo, OHTA, Tohru, YOSHIURA, Koh-Ichiro, MATSUMOTO, Naomichi, NAKANE, Yoshibumi, KANETAKE, Hiroshi
Published in Human genetics (01.03.2003)
Published in Human genetics (01.03.2003)
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Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome
Kondoh, Yuki, Toma, Takaya, Ohashi, Hirofumi, Harada, Naoki, Yoshiura, Ko‐ichiro, Ohta, Tohru, Kishino, Tatsuya, Niikawa, Norio, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.07.2003)
Published in American journal of medical genetics. Part A (01.07.2003)
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Journal Article
Characterization of a Novel Gene Disrupted by a Balanced Chromosomal Translocation t(2;19)(q11.2;q13.3) in a Family with Cleft Lip and Palate
Yoshiura, Koh-ichiro, Machida, Junichiro, Daack-Hirsch, Sandra, Patil, Shivanand R., Ashworth, Linda K., Hecht, Jaqueline T., Murray, Jeffrey C.
Published in Genomics (San Diego, Calif.) (01.12.1998)
Published in Genomics (San Diego, Calif.) (01.12.1998)
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TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations
Kinoshita, Akira, Fukumaki, Yasuyuki, Shirahama, Shuya, Miyahara, Akira, Nishimura, Gen, Haga, Nobuhiko, Namba, Atsushi, Ueda, Hitoshi, Hayashi, Hiromi, Ikegawa, Shiro, Seidel, Joerg, Niikawa, Norio, Yoshiura, Koh-ichiro
Published in American journal of medical genetics. Part A (15.05.2004)
Published in American journal of medical genetics. Part A (15.05.2004)
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