Mutation screening in FZD4 and LRP5 in familial exudative vitreoretinopathy patients.

被引:0
|
作者
Bottomley, HM
Downey, LM
Mackey, DA
Craig, JE
Gregory-Evans, CY
Woodruff, G
Black, GCM
Zhang, K
Inglehearn, CF
Toomes, C
机构
[1] Univ Leeds, Mol Med Unit, Leeds, W Yorkshire, England
[2] Royal Victorian Eye & Ear Hosp, Ctr Eye Res, Melbourne, Vic 3002, Australia
[3] Flinders Med Ctr, Dept Ophthalmol, Adelaide, SA, Australia
[4] Imperial Coll Med, Fac Med, London, England
[5] Leicester Royal Infirm, Dept Ophthalmol, Leicester, Leics, England
[6] Univ Manchester, Acad Unit Ophthalmol, Manchester, Lancs, England
[7] Univ Utah, Dept Ophthalmol & Visual Sci, Salt Lake City, UT USA
[8] Univ Utah, Program Human Mol Biol & Genet, Salt Lake City, UT USA
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
2465
引用
收藏
页码:U944 / U944
页数:1
相关论文
共 50 条
  • [1] Mutation Analysis of FZD4, NDP, and LRP5 in Familial Exudative Vitreoretinopathy Patients
    Fujimaki, T.
    Miyazaki, A.
    Setyoningrum, N. R.
    Fujiki, K.
    Fujimaki, T.
    Kawano, H.
    Iwata, F.
    Kanbe, T.
    Hamahata, T.
    Murakami, A.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [2] Mutation screening of FZD4 in familial exudative vitreoretinopathy patients
    Downey, IM
    Bottomley, HM
    Scott, S
    Craig, JE
    Mackey, DA
    Appukuttan, B
    Stout, JT
    Inglehearn, CF
    Toomes, C
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U278 - U278
  • [3] Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)
    Carrera, William
    Ng, Caleb
    Desler, Caroline
    Jumper, J. Michael
    Agarwal, Anita
    OPHTHALMIC GENETICS, 2021, 42 (02) : 200 - 203
  • [4] FZD4 and/or LRP5 gene mutations in 14 Japanese families with familial exudative vitreoretinopathy
    Kondo, H
    Qin, M
    Hayashi, H
    Oshima, K
    Tahira, T
    Hayashi, K
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
  • [5] Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy
    Seo, Soo Hyun
    Yu, Young Suk
    Park, Sung Wook
    Kim, Jeong Hun
    Kim, Hyun Kyung
    Cho, Sung Im
    Park, Hyunwoong
    Lee, Seung Jun
    Seong, Moon-Woo
    Park, Sung Sup
    Kim, Ji Yeon
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (09) : 5143 - 5151
  • [6] Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
    Yang, Huiqin
    Li, Shiqiang
    Xiao, Xueshan
    Wang, Panfeng
    Guo, Xiangming
    Zhang, Qingjiong
    MOLECULAR VISION, 2012, 18 (256-57): : 2438 - 2446
  • [7] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes
    Qin, MH
    Hayashi, H
    Oshima, K
    Tahira, T
    Hayashi, K
    Kondo, H
    HUMAN MUTATION, 2005, 26 (02) : 104 - 112
  • [8] Overview of the Mutation Spectrum in Familial Exudative Vitreoretinopathy and Norrie Disease with Identification of 21 Novel Variants in FZD4, LRP5, and NDP
    Nikopoulos, Konstantinos
    Venselaar, Hanka
    Collin, Rob W. J.
    Riveiro-Alvarez, Rosa
    Boonstra, F. Nienke
    Hooymans, Johanna M. M.
    Mukhopadhyay, Arijit
    Shears, Deborah
    van Bers, Marleen
    de Wijs, Ilse J.
    van Essen, Anthonie J.
    Sijmons, Rolf H.
    Tilanus, Mauk A. D.
    van Nouhuys, C. Erik
    Ayuso, Carmen
    Hoefsloot, Lies H.
    Cremers, Frans P. M.
    HUMAN MUTATION, 2010, 31 (06) : 656 - 666
  • [9] Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
    Toomes, C
    Bottomley, HM
    Jackson, RM
    Towns, KV
    Scott, S
    Mackey, DA
    Craig, JE
    Jiang, L
    Yang, ZL
    Trembath, R
    Woodruff, G
    Gregory-Evans, CY
    Gregory-Evans, K
    Parker, MJ
    Black, GCM
    Downey, LM
    Zhang, K
    Inglehearn, CF
    AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (04) : 721 - 730
  • [10] Novel mutations in FZD4 with familial exudative vitreoretinopathy
    Jiang, L
    Bottomley, HM
    Yang, Z
    Zhao, Y
    Lee, H
    Tawansy, K
    Tasman, W
    Nathans, J
    Toomes, C
    Zhang, K
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U944 - U944