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Author/Creator Takada, Fumio

1. Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants. Issue 10 (22nd September 2022)

Authors:
Matsuura, Nobuo; Kaname, Tadashi; Niikawa, Norio; Ooyama, Yoshihide; Shinohara, Osamu; Yokota, Yukifumi; Ohtsu, Shigeyuki; Takubo, Noriyuki; Kitsuda, Kazuteru; Shibayama, Keiko; Takada, Fumio; Koike, Akemi; Sano, Hitomi; Ito, Yoshiya; Ishikura, Kenji
Journal:
Endocrine connections
Issue:
Volume 11:Issue 10(2022)
Page Start:
Record Type:
Journal Article
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2. Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan. Issue 11 (November 2018)

Authors:
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
Journal:
Journal of human genetics
Issue:
Volume 63:Issue 11(2018)
Page Start:
1195
Record Type:
Journal Article
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3. Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. (1st March 2015)

Authors:
Hashikata, Takehiro; Tojo, Taiki; Namba, Sayaka; Kitasato, Lisa; Hashimoto, Takuya; Kameda, Ryo; Shimohama, Takao; Yamaoka-Tojo, Minako; Takada, Fumio; Ako, Junya
Journal:
International journal of cardiology
Issue:
Volume 182(2015)
Page Start:
31
Record Type:
Journal Article
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4. Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening. Issue 11 (5th October 2020)

Authors:
Sawada, Takaaki; Kido, Jun; Sugawara, Keishin; Matsumoto, Shirou; Takada, Fumio; Tsuboi, Kazuya; Ohtake, Akira; Endo, Fumio; Nakamura, Kimitoshi
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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5. Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening. Issue 11 (5th October 2020)

Authors:
Sawada, Takaaki; Kido, Jun; Sugawara, Keishin; Matsumoto, Shirou; Takada, Fumio; Tsuboi, Kazuya; Ohtake, Akira; Endo, Fumio; Nakamura, Kimitoshi
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region. Issue 5 (3rd February 2017)

Authors:
Ohtaka, Kohnosuke; Fujisawa, Yasuko; Takada, Fumio; Hasegawa, Yukihiro; Miyoshi, Tatsuya; Hasegawa, Tomonobu; Miyoshi, Hideaki; Kameda, Hiraku; Kurokawa‐Seo, Misuzu; Fukami, Maki; Ogata, Tsutomu
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
503
Record Type:
Journal Article
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7. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature. Issue 5 (24th March 2014)

Authors:
Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 5(2014.)
Page Start:
1272
Record Type:
Journal Article
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