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Author Yoshiura, Koh-Ichiro: 32    link image

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2019-01-28 A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency Dateki, Sumito; Watanabe, Satoshi; Mishima, Hiroyuki; Shirakawa, Toshihiko; Morikawa, Minoru; Kinoshita, Eiichi; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki 110
2018-01-15 A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome 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 244
2019-11 A Mutation in PDGFRB in a Family with Infantile Myofibromatosis Ito, Nobuhiro; Watanabe, Satoshi; Mishima, Hiroyuki; Kinoshita, Akira; Okada, Masahiko; Moriuchi, Hiroyuki; Yoshiura, Koh-ichiro 100
2015-09 A novel diagnostic method targeting genomic instability in intracystic tumors of the breast Oikawa, Masahiro; Yano, Hiroshi; Matsumoto, Megumi; Otsubo, Ryota; Shibata, Kenichiro; Hayashi, Tomayoshi; Abe, Kuniko; Kinoshita, Naoe; Yoshiura, Koh-ichiro; Nagayasu, Takeshi 417
2013-09 A Predictive Factor of the Quality of Microarray Comparative Genomic Hybridization Analysis for Formalin-fixed Paraffin-embedded Archival Tissue Nakao, Kenjiro; Oikawa, Masahiro; Arai, Junichi; Mussazhanova, Zhanna; Kondo, Hisayoshi; Shichijo, Kazuko; Nakashima, Masahiro; Hayashi, Tomayoshi; Yoshiura, Koh-ichiro; Hatachi, Toshiko; Nagayasu, Takeshi 520
2009-08-04 A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. Nakano, Motoi; Miwa, Nobutomo; Hirano, Akiyoshi; Yoshiura, Koh-Ichiro; Niikawa, Norio 941
2010-01-15 A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 Tsuda, Masayoshi; Yamada, Takahiro; Mikoya, Tadashi; Sogabe, Izumi; Nakashima, Mitsuko; Minakami, Hisanori; Kishino, Tatsuya; Kinoshita, Akira; Niikawa, Norio; Hirano, Akiyoshi; Yoshiura, Koh-ichiro 712
2014-06-28 ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion Matsumoto, Hirofumi; Tsuchiya, Tomoshi; Yoshiura, Koh-ichiro; Hayashi, Tomayoshi; Hidaka, Shigekazu; Nanashima, Atsushi; Nagayasu, Takeshi 534
2011-09-08 Agile parallel bioinformatics workflow management using Pwrake. Mishima, Hiroyuki; Sasaki, Kensaku; Tanaka, Masahiro; Tatebe, Osamu; Yoshiura, Koh-Ichiro 635
2012 Clinical and molecular analysis of synchronous double lung cancers Arai, Junichi; Tsuchiya, Tomoshi; Oikawa, Masahiro; Mochinaga, Koji; Hayashi, Tomayoshi; Yoshiura, Koh-ichiro; Tsukamoto, Kazuhiro; Yamasaki, Naoya; Matsumoto, Keitaro; Miyazaki, Takuro; Nagayasu, Takeshi 918
2012-04-30 Copy Number Alteration and Uniparental Disomy Analysis Categorizes Japanese Papillary Thyroid Carcinomas into Distinct Groups Matsuse, Michiko; Sasaki, Kensaku; Nishihara, Eijun; Minami, Shigeki; Hayashida, Chisa; Kondo, Hisayoshi; Suzuki, Keiji; Saenko, Vladimir; Yoshiura, Koh-ichiro; Mitsutake, Norisato; Yamashita, Shunichi 537
2010-10 Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia. Ono, Shinji; Imamura, Akira; Tasaki, Shinya; Kurotaki, Naohiro; Ozawa, Hiroki; Yoshiura, Koh-ichiro; Okazaki, Yuji 1030
2010-09 Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array. Oikawa, Masahiro; Kuniba, Hideo; Kondoh, Tatsuro; Kinoshita, Akira; Nagayasu, Takeshi; Niikawa, Norio; Yoshiura, Koh-ichiro 957
2008-01 A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family Nakashima, Mitsuko; Nakano, Motoi; Hirano, Akiyoshi; Kishino, Tatsuya; Kondoh, Shinji; Miwa, Nobutomo; Niikawa, Norio; Yoshiura, Koh-ichiro 1320
2017-02-01 Genotype Analyses in the Japanese and Belarusian Populations Reveal Independent Effects of rs965513 and rs1867277 but Do Not Support the Role of FOXE1 Polyalanine Tract Length in Conferring Risk for Papillary Thyroid Carcinoma Nikitski, Alyaksandr V.; Rogounovitch, Tatiana I.; Bychkov, Andrey; Takahashi, Meiko; Yoshiura, Koh-ichiro; Mitsutake, Norisato; Kawaguchi, Takahisa; Matsuse, Michiko; Drozd, Valentina M.; Demidchik, Yuri; Nishihara, Eijun; Hirokawa, Mitsuyoshi; Miyauchi, Akira; Rubanovich, Alexander V.; Matsuda, Fumihiko; Yamashita, Shunichi; Saenko, Vladimir A. 329
2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome Shimizu, Hitomi; Watanabe, Satoshi; Kinoshita, Akira; Mishima, Hiroyuki; Nishimura, Gen; Moriuchi, Hiroyuki; Yoshiura, Koh-ichiro; Dateki, Sumito 117
2017-07-01 Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation Dateki, Sumito; Nakatomi, Akiko; Watanabe, Satoshi; Shimizu, Hitomi; Inoue, Yukiko; Baba, Hideo; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki 317
2011-05-31 Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis. Kurotaki, Naohiro; Tasaki, Shinya; Mishima, Hiroyuki; Ono, Shinji; Imamura, Akira; Kikuchi, Taeko; Nishida, Nao; Tokunaga, Katsushi; Yoshiura, Koh-ichiro; Ozawa, Hiroki 795
2011-06-09 Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma: Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays. Oikawa, Masahiro; Nagayasu, Takeshi; Yano, Hiroshi; Hayashi, Tomayoshi; Abe, Kuniko; Kinoshita, Akira; Yoshiura, Koh-Ichiro 827
2019-12-13 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) Hamaguchi, Yo; Aoki, Mikihiro; Watanabe, Satoshi; Mishima, Hiroyuki; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki; Dateki, Sumito 105
2008-07 Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. Kuniba, Hideo; Tsuda, Masayoshi; Nakashima, Mitsuko; Miura, Shoko; Miyake, Noriko; Kondoh, Tatsuro; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Naritomi, Kenji; Matsumoto, Naomichi; Kinoshita, Akira; Yoshiura, Koh-ichiro; Niikawa, Norio 1263
2015-12 Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders Yamamoto, Takuma; Mishima, Hiroyuki; Mizukami, Hajime; Fukahori, Yuki; Umehara, Takahiro; Murase, Takehiko; Kobayashi, Masamune; Mori, Shinjiro; Nagai, Tomonori; Fukunaga, Tatsushige; Yamaguchi, Seiji; Yoshiura, Koh-ichiro; Ikematsu, Kazuya 690
2009-05 Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. 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 2329
2012-05 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair Nakazawa, Yuka; Sasaki, Kensaku; Mitsutake, Norisato; Matsuse, Michiko; Shimada, Mayuko; Nardo, Tiziana; Takahashi, Yoshito; Ohyama, Kaname; Ito, Kosei; Mishima, Hiroyuki; Nomura, Masayo; Kinoshita, Akira; Ono, Shinji; Takenaka, Katsuya; Masuyama, Ritsuko; Kudo, Takashi; Slor, Hanoch; Utani, Atsushi; Tateishi, Satoshi; Yamashita, Shunichi; Stefanini, Miria; Lehmann, Alan R; Yoshiura, Koh-ichiro; Ogi, Tomoo 1796
2019-04-19 Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities Morimoto, Yoshiro; Yoshida, Shintaro; Kinoshita, Akira; Satoh, Chisei; Mishima, Hiroyuki; Yamaguchi, Naohiro; Matsuda, Katsuya; Sakaguchi, Miako; Tanaka, Takeshi; Komohara, Yoshihiro; Imamura, Akira; Ozawa, Hiroki; Nakashima, Masahiro; Kurotaki, Naohiro; Kishino, Tatsuya; Yoshiura, Koh-ichiro; Ono, Shinji 213
2013-01-02 Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion Ishikawa, Toshihisa; Toyoda, Yu; Yoshiura, Koh-ichiro; Niikawa, Norio 7179
2011-11 Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology. Yamasaki, Kentaro; Miura, Kiyonori; Shimada, Takako; Ikemoto, Rie; Miura, Shoko; Murakami, Makoto; Sameshima, Tetsuro; Fujishita, Akira; Kotera, Kouhei; Kinoshita, Akira; Yoshiura, Koh-Ichiro; Masuzaki, Hideaki 661
2016-10-22 Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature Matsuda, Katsuya; Tateishi, Seiko; Akazawa, Yuko; Kinoshita, Akira; Yoshida, Shiko; Morisaki, Sachiko; Fukushima, Ai; Matsuwaki, Takahiro; Yoshiura, Koh-Ichiro; Nakashima, Masahiro 353
2012-09-21 The Ruby UCSC API: accessing the UCSC genome database using Ruby Mishima, Hiroyuki; Aerts, Jan; Katayama, Toshiaki; Bonnal, Raoul J P; Yoshiura, Koh-ichiro 668
2013-01-10 Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations Sasaki, Kensaku; Mishima, Hiroyuki; Miura, Kiyonori; Yoshiura, Koh-ichiro 1926
2008-07-15 Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome Kuniba, Hideo; Sato, Daisuke; Yoshiura, Koh-ichiro; Ohashi, Hirofumi; Kurosawa, Kenji; Miyake, Noriko; Kondoh, Tasturo; Matsumoto, Tadashi; Nagai, Toshiro; Okamoto, Nobuhiko; Fukushima, Yoshimitsu; Naritomi, Kenji; Matsumoto, Naomichi; Niikawa, Norio 1636
2011-10-31 中條―西村症候群 金澤, 伸雄; 有馬, 和彦; 井田, 弘明; 吉浦, 孝一郎; 古川, 福実 3687

 

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