Works matching AU Iwata, Takeshi


Results: 86
    1
    2

    Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
    By:
    • Fiorentino, Alessia;
    • Fujinami, Kaoru;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Pontikos, Nikolas;
    • Arasanz Armengol, Monica;
    • Plagnol, Vincent;
    • Hayashi, Takaaki;
    • Iwata, Takeshi;
    • Parker, Matthew;
    • Fowler, Tom;
    • Rendon, Augusto;
    • Gardner, Jessica C.;
    • Henderson, Robert H.;
    • Cheetham, Michael E.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.;
    • for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
    Publication type:
    Article
    3
    4
    5

    Genetic and Phenotypic Landscape of PRPH2 -Associated Retinal Dystrophy in Japan.

    Published in:
    Genes, 2021, v. 12, n. 11, p. 1817, doi. 10.3390/genes12111817
    By:
    • Oishi, Akio;
    • Fujinami, Kaoru;
    • Mawatari, Go;
    • Naoi, Nobuhisa;
    • Ikeda, Yasuhiro;
    • Ueno, Shinji;
    • Kuniyoshi, Kazuki;
    • Hayashi, Takaaki;
    • Kondo, Hiroyuki;
    • Mizota, Atsushi;
    • Shinoda, Kei;
    • Kusuhara, Sentaro;
    • Nakamura, Makoto;
    • Iwata, Takeshi;
    • Tsujikawa, Akitaka;
    • Tsunoda, Kazushige
    Publication type:
    Article
    6
    7
    8

    Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

    Published in:
    Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0065-7
    By:
    • Mawatari, Go;
    • Fujinami, Kaoru;
    • Liu, Xiao;
    • Yang, Lizhu;
    • Yokokawa, Yu-Fujinami;
    • Komori, Shiori;
    • Ueno, Shinji;
    • Terasaki, Hiroko;
    • Katagiri, Satoshi;
    • Hayashi, Takaaki;
    • Kuniyoshi, Kazuki;
    • Miyake, Yozo;
    • Tsunoda, Kazushige;
    • Yoshitake, Kazutoshi;
    • Iwata, Takeshi;
    • Nao-i, Nobuhisa
    Publication type:
    Article
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26

    Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
    By:
    • Biswas, Pooja;
    • Murthy Chavali, Venkata Ramana;
    • Agnello, Giulia;
    • Stone, Everett;
    • Chakarova, Christina;
    • Duncan, Jacque L.;
    • Kannabiran, Chitra;
    • Homsher, Melissa;
    • Bhattacharya, Shomi S.;
    • Naeem, Muhammad Asif;
    • Kimchi, Adva;
    • Sharon, Dror;
    • Takeshi Iwata;
    • Riazuddin, Shaikh;
    • Reddy, G. Bhanuprakash;
    • Hejtmancik, J. Fielding;
    • Georgiou, George;
    • Riazuddin, S. Amer;
    • Ayyagari, Radha
    Publication type:
    Article
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46

    RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 675, doi. 10.1002/ajmg.c.31830
    By:
    • Fujinami, Kaoru;
    • Liu, Xiao;
    • Ueno, Shinji;
    • Mizota, Atsushi;
    • Shinoda, Kei;
    • Kuniyoshi, Kazuki;
    • Fujinami‐Yokokawa, Yu;
    • Yang, Lizhu;
    • Arno, Gavin;
    • Pontikos, Nikolas;
    • Kameya, Shuhei;
    • Kominami, Taro;
    • Terasaki, Hiroko;
    • Sakuramoto, Hiroyuki;
    • Nakamura, Natsuko;
    • Kurihara, Toshihide;
    • Tsubota, Kazuo;
    • Miyake, Yozo;
    • Yoshiake, Kazutoshi;
    • Iwata, Takeshi
    Publication type:
    Article
    47

    Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
    By:
    • Fujinami, Kaoru;
    • Oishi, Akio;
    • Yang, Lizhu;
    • Arno, Gavin;
    • Pontikos, Nikolas;
    • Yoshitake, Kazutoshi;
    • Fujinami‐Yokokawa, Yu;
    • Liu, Xiao;
    • Hayashi, Takaaki;
    • Katagiri, Satoshi;
    • Mizobuchi, Kei;
    • Mizota, Atsushi;
    • Shinoda, Kei;
    • Nakamura, Natsuko;
    • Kurihara, Toshihide;
    • Tsubota, Kazuo;
    • Miyake, Yozo;
    • Iwata, Takeshi;
    • Tsujikawa, Akitaka;
    • Tsunoda, Kazushige
    Publication type:
    Article
    48

    Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7.

    Published in:
    PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0186678
    By:
    • Shiga, Yukihiro;
    • Nishiguchi, Koji M.;
    • Kawai, Yosuke;
    • Kojima, Kaname;
    • Sato, Kota;
    • Fujita, Kosuke;
    • Takahashi, Mai;
    • Omodaka, Kazuko;
    • Araie, Makoto;
    • Kashiwagi, Kenji;
    • Aihara, Makoto;
    • Iwata, Takeshi;
    • Mabuchi, Fumihiko;
    • Takamoto, Mitsuko;
    • Ozaki, Mineo;
    • Kawase, Kazuhide;
    • Fuse, Nobuo;
    • Yamamoto, Masayuki;
    • Yasuda, Jun;
    • Nagasaki, Masao
    Publication type:
    Article
    49
    50