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22 results for Takada,+Fumio

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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Author / Creator:Hori, Asuka ; Migita, Ohsuke ; Kawaguchi-Kawata, Rika ; Narumi-Kishimoto, Yoko ; Takada, Fumio ; Hata, Kenichiro
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2021-10, Vol.8 (1), p.40-40, Article 40
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A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
Author / Creator:Hori, Asuka ; Migita, Ohsuke ; Isogawa, Nobutaka ; Takada, Fumio ; Hata, Kenichiro
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2022-05, Vol.9 (1), p.17-17, Article 17
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Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles
Author / Creator:Hori, Asuka ; Ogata-Kawata, Hiroko ; Sasaki, Aiko ; Takahashi, Ken ; Taniguchi, Kosuke ; Migita, Ohsuke ; Kawashima, Akihiro ; Okamoto, Aikou ; Sekizawa, Akihiko ; Sago, Haruhiko ; Takada, Fumio ; Nakabayashi, Kazuhiko ; Hata, Kenichiro
Publisher:London: BioMed Central Ltd
Journal title:BMC research notes, 2021-09, Vol.14 (1), p.1-380, Article 380
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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening
Author / Creator:Sawada, Takaaki ; Kido, Jun ; Sugawara, Keishin ; Matsumoto, Shirou ; Takada, Fumio ; Tsuboi, Kazuya ; Ohtake, Akira ; Endo, Fumio ; Nakamura, Kimitoshi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1502-n/a
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Molecular Basis for Hypochondroplasia in Japan
Author / Creator:Ishii, Tomohiro ; Takagi, Masaki ; Nagasaki, Keisuke ; Ohara, Toshio ; Miyai, Kentaro ; Kosho, Tomoki ; Takada, Fumio ; Nishimura, Gen ; Hasegawa, Tomonobu
Publisher:Basel: MDPI AG
Journal title:Endocrines, 2022-09, Vol.3 (3), p.428-432
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Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
Author / Creator:Miyake, Hidehiko ; Yamada, Shigehito ; Fujii, Yosuke ; Sawai, Hideaki ; Arimori, Naoko ; Yamanouchi, Yasuko ; Ozasa, Yuka ; Kanai, Makoto ; Sago, Haruhiko ; Sekizawa, Akihiko ; Takada, Fumio ; Masuzaki, Hideaki ; Matsubara, Yoichi ; Hirahara, Fumiki ; Kugu, Koji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-10, Vol.61 (10), p.879-884
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Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan
Author / Creator:Miyake, Hidehiko ; Yamada, Shigehito ; Fujii, Yosuke ; Sawai, Hideaki ; Arimori, Naoko ; Yamanouchi, Yasuko ; Ozasa, Yuka ; Kanai, Makoto ; Sago, Haruhiko ; Sekizawa, Akihiko ; Takada, Fumio ; Masuzaki, Hideaki ; Matsubara, Yoichi ; Hirahara, Fumiki ; Kugu, Koji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-11, Vol.63 (11), p.1195-1195
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Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements
Author / Creator:Nakashima, Shinichi ; Ohishi, Akira ; Takada, Fumio ; Kawamura, Hideki ; Igarashi, Maki ; Fukami, Maki ; Ogata, Tsutomu
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-10, Vol.59 (10), p.549-553
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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Author / Creator:Niihori, Tetsuya ; Aoki, Yoko ; Ohashi, Hirofumi ; Kurosawa, Kenji ; Kondoh, Tatsuro ; Ishikiriyama, Satoshi ; Kawame, Hiroshi ; Kamasaki, Hotaka ; Yamanaka, Tsutomu ; Takada, Fumio ; Nishio, Kimio ; Sakurai, Masahiro ; Tamai, Hiroshi ; Nagashima, Tatsuro ; Suzuki, Yoichi ; Kure, Shigeo ; Fujii, Kunihiro ; Imaizumi, Masue ; Matsubara, Yoichi
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2005-04, Vol.50 (4), p.192-202
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Physicians' opinion for ‘new’ genetic testing in Japan
Author / Creator:Ohata, Takako ; Tsuchiya, Atsushi ; Watanabe, Maiko ; Sumida, Tomohisa ; Takada, Fumio
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2009-04, Vol.54 (4), p.203-208
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Myozenin: An α-actinin- and γ-Filamin-Binding Protein of Skeletal Muscle Z Lines
Author / Creator:Takada, Fumio ; Douglas L. Vander Woude ; Tong, Hui-Qi ; Thompson, Terri G. ; Watkins, Simon C. ; Kunkel, Louis M. ; Beggs, Alan H.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2001-02, Vol.98 (4), p.1595-1600
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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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A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
Author / Creator:Ohata, Takako ; Yoshida, Kunihiro ; Sakai, Haruya ; Hamanoue, Haruka ; Mizuguchi, Takeshi ; Shimizu, Yusaku ; Okano, Tomomi ; Takada, Fumio ; Ishikawa, Kinya ; Mizusawa, Hidehiro ; Yoshiura, Ko-ichiro ; Fukushima, Yoshimitsu ; Ikeda, Shu-ichi ; Matsumoto, Naomichi
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2006-05, Vol.51 (5), p.461-466
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Perceptions of the Concept of Mutation among Family Members of Patients Receiving Outpatient Genetic Services and University Students
Author / Creator:Ando, Noriko ; Iwamitsu, Yumi ; Takemura, Kazuhisa ; Saito, Yukiko ; Takada, Fumio
Publisher:Boston: Springer US
Journal title:Journal of genetic counseling, 2009-12, Vol.18 (6), p.567-577
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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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Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort
Author / Creator:Arai, Yasuhiro ; Nishio, Shin-ya ; Goto, Shinichi ; Kobayashi, Yumiko ; Honkura, Yohei ; Ganaha, Akira ; Ishikawa, Kotaro ; Oka, Shin-ichiro ; Futagawa, Hiroshi ; Okami, Mayuri ; Takada, Fumio ; Nagai, Kyoko ; Esaki, Tomoko ; Okano, Takayuki ; Ohta, Yumi ; Masuda, Shin ; Egusa, Kentaro ; Teraoka, Masato ; Sugahara, Kazuma ; Usami, Shin-ichi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-01, Vol.16 (1), p.60
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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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Couple's decision-making after birth of a child with an unbalanced chromosomal translocation
Author / Creator:Yamamoto, Toshiyuki ; Nishikawa, Tomoko ; Yamanaka, Michiko ; Takada, Fumio ; Kurosawa, Kenji
Publisher:New York: Georg Thieme Verlag KG
Journal title:Journal of pediatric neurology, 2008-09, Vol.6 (3), p.203-208
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Myozenin: An alpha-actinin- and beta-filamin-binding protein of skeletal muscle Z lines
Author / Creator:Takada, Fumio ; Vander Woude, Douglas L ; Hui-Qi, Tong ; Thompson, Terri G
Publisher:Washington: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2001-02, Vol.98 (4), p.1595
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Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines
Author / Creator:Takada, Fumio ; Woude, Douglas L. Vander ; Tong, Hui-Qi ; Thompson, Terri G. ; Watkins, Simon C. ; Kunkel, Louis M. ; Beggs, Alan H.
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2001-02, Vol.98 (4), p.1595-1600
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Showing 1 to 20 of 22 results

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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

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A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia

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Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

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Molecular Basis for Hypochondroplasia in Japan

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Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

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Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

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Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

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Physicians' opinion for ‘new’ genetic testing in Japan

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Myozenin: An α-actinin- and γ-Filamin-Binding Protein of Skeletal Muscle Z Lines

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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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A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

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Perceptions of the Concept of Mutation among Family Members of Patients Receiving Outpatient Genetic Services and University Students

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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 OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort

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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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Couple's decision-making after birth of a child with an unbalanced chromosomal translocation

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Myozenin: An alpha-actinin- and beta-filamin-binding protein of skeletal muscle Z lines

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Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines

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