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31 results for Makita,+Yoshio

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Select record 21
ArticlesPeer ReviewedFull Text
Haploinsufficiency of NSD1 causes Sotos syndrome
Author / Creator:Kurotaki, Naohiro ; Imaizumi, Kiyoshi ; Harada, Naoki ; Masuno, Mitsuo ; Kondoh, Tatsuro ; Nagai, Toshiro ; Ohashi, Hirofumi ; Naritomi, Kenji ; Tsukahara, Masato ; Makita, Yoshio ; Sugimoto, Tateo ; Sonoda, Tohru ; Hasegawa, Tomoko ; Chinen, Yasuaki ; Tomita, Hiro-aki ; Kinoshita, Akira ; Mizuguchi, Tsuyoshi ; Yoshiura, Koh-ichiro ; Ohta, Tohru ; Kishino, Tatsuya ; Fukushima, Yoshimitsu ; Niikawa, Norio ; Matsumoto, Naomichi
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-04, Vol.30 (4), p.365-366
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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation
Author / Creator:Hwang, Su-Kyeong ; Makita, Yoshio ; Kurahashi, Hirokazu ; Cho, Yong-Won ; Hirose, Shinichi
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-08, Vol.56 (8), p.609-612
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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
Author / Creator:Okamoto, Nana ; Hayashi, Shin ; Masui, Ayako ; Kosaki, Rika ; Oguri, Izumi ; Hasegawa, Tomoko ; Imoto, Issei ; Makita, Yoshio ; Hata, Akira ; Moriyama, Keiji ; Inazawa, Johji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2012-03, Vol.57 (3), p.191-196
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Genitopatellar syndrome: the first reported case in Japan
Author / Creator:Okano, Satomi ; Miyamoto, Akie ; Fukuda, Ikue ; Tanaka, Hajime ; Hata, Kenichiro ; Kaname, Tadashi ; Matsubara, Yoichi ; Makita, Yoshio
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2018-05, Vol.5 (1), p.8-4, Article 8
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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
Author / Creator:Uehara, Daniela Tiaki ; Hayashi, Shin ; Okamoto, Nobuhiko ; Mizuno, Seiji ; Chinen, Yasutsugu ; Kosaki, Rika ; Kosho, Tomoki ; Kurosawa, Kenji ; Matsumoto, Hiroshi ; Mitsubuchi, Hiroshi ; Numabe, Hironao ; Saitoh, Shinji ; Makita, Yoshio ; Hata, Akira ; Imoto, Issei ; Inazawa, Johji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-04, Vol.61 (4), p.335-343
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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Author / Creator:Okano, Satomi ; Makita, Yoshio ; Katada, Akihiro ; Harabuchi, Yasuaki ; Kohmoto, Tomohiro ; Naruto, Takuya ; Masuda, Kiyoshi ; Imoto, Issei
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2019-01, Vol.6 (1), p.8, Article 8
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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
Author / Creator:Kinoshita, Akira ; Saito, Takashi ; Tomita, Hiro-aki ; Makita, Yoshio ; Yoshida, Kunihiro ; Ghadami, Mohsen ; Yamada, Koki ; Kondo, Shinji ; Ikegawa, Shiro ; Nishimura, Gen ; Fukushima, Yoshimitsu ; Nakagomi, Tadashi ; Saito, Haruki ; Sugimoto, Takeo ; Kamegaya, Makoto ; Hisa, Kenji ; Murray, Jeffrey C. ; Taniguchi, Naoyuki ; Niikawa, Norio ; Yoshiura, Koh-ichiro
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-09, Vol.26 (1), p.19-20
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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
Author / Creator:Hayashi, Shin ; Imoto, Issei ; Aizu, Yoshinori ; Okamoto, Nobuhiko ; Mizuno, Seiji ; Kurosawa, Kenji ; Okamoto, Nana ; Honda, Shozo ; Araki, Satoshi ; Mizutani, Shuki ; Numabe, Hironao ; Saitoh, Shinji ; Kosho, Tomoki ; Fukushima, Yoshimitsu ; Mitsubuchi, Hiroshi ; Endo, Fumio ; Chinen, Yasutsugu ; Kosaki, Rika ; Okuyama, Torayuki ; Ohki, Hirotaka ; Yoshihashi, Hiroshi ; Ono, Masae ; Takada, Fumio ; Ono, Hiroaki ; Yagi, Mariko ; Matsumoto, Hiroshi ; Makita, Yoshio ; Hata, Akira ; Inazawa, Johji
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-02, Vol.56 (2), p.110-124
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Select record 29
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Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
Author / Creator: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
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-11, Vol.22 (5), p.378-387
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Select record 30
ArticlesPeer ReviewedFull Text
Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis
Author / Creator:Hayashi, Shin ; Honda, Shozo ; Minaguchi, Maki ; Makita, Yoshio ; Okamoto, Nobuhiko ; Kosaki, Rika ; Okuyama, Torayuki ; Imoto, Issei ; Mizutani, Shuki ; Inazawa, Johji
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2007-05, Vol.52 (5), p.397-405
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Select record 31
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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
Author / Creator:Kurotaki, Naohiro ; Shen, Joseph J. ; Touyama, Mayumi ; Kondoh, Tatsuro ; Visser, Remco ; Ozaki, Takao ; Nishimoto, Junji ; Shiihara, Takashi ; Uetake, Kimiaki ; Makita, Yoshio ; Harada, Naoki ; Raskin, Salmo ; Brown, Chester W. ; Höglund, Pia ; Okamoto, Nobuhiko ; Lupski, James R.
Publisher:United States: Elsevier Inc
Journal title:Genetics in medicine, 2005-09, Vol.7 (7), p.479-483
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Select record 32
ArticlesPeer ReviewedFull Text
Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis
Author / Creator:Ohmori, H. ; Makita, Y. ; Funamizu, M. ; Hirooka, K. ; Hosoi, T. ; Orimo, H. ; Suzuki, T. ; Ikari, K. ; Nakajima, T. ; Inoue, I. ; Hata, A.
Publisher:Tokyo: Springer-Verlag
Journal title:Journal of human genetics, 2002-08, Vol.47 (8), p.400-406
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Select record 33
ArticlesPeer ReviewedFull Text
Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene
Author / Creator:Ohmori, H. ; Makita, Y. ; Funamizu, M. ; Chiba, S. ; Ohtani, K. ; Suzuki, Y. ; Wakamiya, N. ; Hata, A.
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2003-02, Vol.48 (2), p.82-85
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Select record 34
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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
Author / Creator:Takahashi, Yuji ; Date, Hidetoshi ; Oi, Hideki ; Adachi, Takeya ; Imanishi, Noriaki ; Kimura, En ; Takizawa, Hotake ; Kosugi, Shinji ; Matsumoto, Naomichi ; Kosaki, Kenjiro ; Matsubara, Yoichi ; Ando, Yukio ; Anzai, Toshihisa ; Ariga, Tadashi ; Fukushima, Yoshimitsu ; Furusawa, Yoshihiko ; Ganaha, Akira ; Goto, Yuichi ; Hata, Kenichiro ; Honda, Masataka ; Iijima, Kazumoto ; Ikka, Tsunakuni ; Imoto, Issei ; Kaname, Tadashi ; Kobayashi, Masao ; Kojima, Seiji ; Kurahashi, Hiroki ; Kure, Shigeo ; Kurosawa, Kenji ; Maegaki, Yoshihiro ; Makita, Yoshio ; Morio, Tomohiro ; Narita, Ichiei ; Nomura, Fumio ; Ogata, Tsutomu ; Ozono, Keiichi ; Oka, Akira ; Okamoto, Nobuhiko ; Saitoh, Shinji ; Sakurai, Akihiro ; Takada, Fumio ; Takahashi, Tsutomu ; Tamaoka, Akira ; Umezawa, Akihiro ; Yachie, Akihiro ; Yoshiura, Kouichiro ; Chinen, Yasutsugu ; Eguchi, Mariko ; Fujio, Keishi ; Hosoda, Kiminori ; Ichikawa, Tomohiko ; Kawarai, Toshitaka ; Kosho, Tomoki ; Masuno, Mitsuo ; Nakamura, Akie ; Nakane, Takaya ; Ogi, Tomoo ; Okada, Satoshi ; Sakata, Yasushi ; Seto, Toshiyuki ; Takahashi, Yoshiyuki ; Takano, Tadao ; Ueda, Mitsuharu ; Yagasaki, Hideaki ; Yamamoto, Toshiyuki ; Watanabe, Atsushi ; Hotta, Yoshihiro ; Kubo, Akiharu ; Maruyama, Hirofumi ; Moriyama, Keiji ; Nanba, Eiji ; Sakai, Norio ; Sekijima, Yoshiki ; Shimosegawa, Toru ; Takeuchi, Tsutomu ; Usami, Shinichi ; Yamamoto, Kazuhiko ; Mizusawa, Hidehiro
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-09, Vol.67 (9), p.505-513
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Select record 35
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Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Author / Creator:Hayashi, Shin ; Okamoto, Nobuhiko ; Chinen, Yasutsugu ; Takanashi, Jun-ichi ; Makita, Yoshio ; Hata, Akira ; Imoto, Issei ; Inazawa, Johji
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2012-01, Vol.131 (1), p.99-110
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Select record 36
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Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome...
Author / Creator:Maeda, Toshiyuki ; Higashimoto, Ken ; Jozaki, Kosuke ; Yatsuki, Hitomi ; Nakabayashi, Kazuhiko ; Makita, Yoshio ; Tonoki, Hidefumi ; Okamoto, Nobuhiko ; Takada, Fumio ; Ohashi, Hirofumi ; Migita, Makoto ; Kosaki, Rika ; Matsubara, Keiko ; Ogata, Tsutomu ; Matsuo, Muneaki ; Hamasaki, Yuhei ; Ohtsuka, Yasufumi ; Nishioka, Kenichi ; Joh, Keiichiro ; Mukai, Tsunehiro ; Hata, Kenichiro ; Soejima, Hidenobu
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-12, Vol.16 (12), p.903-912
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Select record 37
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Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese
Author / Creator:Nagaya, Ken ; Makita, Yoshio ; Taketazu, Genya ; Okamoto, Toshio ; Nakamura, Eiki ; Hayashi, Tokitsugi ; Fujieda, Kenji
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2009-08, Vol.66 (2), p.135-139
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Select record 38
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Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
Author / Creator:Nishimura, Gen ; Ikegawa, Shiro ; Makita, Yoshio ; Masuno, Mitsuo ; Ohashi, Hirofumi ; Nakashima, Eiji ; Mabuchi, Akihiko
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2004-03, Vol.114 (4), p.345-348
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Select record 39
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Association Between Fatty Acid Binding Protein 3 Gene Variants and Essential Hypertension in Humans
Author / Creator:Ueno, Takahiro ; Soma, Masayoshi ; Tabara, Yasuharu ; Tokunaga, Katsushi ; Tahira, Kzunobu ; Fukuda, Noboru ; Matsumoto, Koichi ; Nakayama, Tomohiro ; Katsuya, Tomohiro ; Ogihara, Toshio ; Makita, Yoshio ; Hata, Akira ; Yamada, Michiko ; Takahashi, Norio ; Hirawa, Nobuhito ; Umemura, Satoshi ; Miki, Tetsuro
Publisher:New York, NY: Oxford University Press
Journal title:American journal of hypertension, 2008-06, Vol.21 (6), p.691-695
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Select record 40
ReportsFull Text
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Author / Creator:Okano, Satomi ; Makita, Yoshio ; Katada, Akihiro ; Harabuchi, Yasuaki ; Kohmoto, Tomohiro ; Naruto, Takuya ; Masuda, Kiyoshi ; Imoto, Issei
Journal title:Human genome variation, 2019, Vol.6, p.8-8
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Showing 21 to 40 of 31 results

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Haploinsufficiency of NSD1 causes Sotos syndrome

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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

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Genitopatellar syndrome: the first reported case in Japan

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

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Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

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Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis

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Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene

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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

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Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

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Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome...

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Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

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Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

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Association Between Fatty Acid Binding Protein 3 Gene Variants and Essential Hypertension in Humans

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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

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