Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

被引:0
|
作者
Dubis, Adam M. [1 ,2 ,3 ]
Mitsios, Andreas [1 ,2 ]
Toms, Maria [2 ]
Webster, Andrew [1 ,2 ]
Moosajee, Mariya [1 ,2 ]
机构
[1] Moorfields Eye Hosp, NIHR BRC, London, England
[2] UCL Inst Ophthalmol, London, England
[3] UCL Inst Ophthalmol, Dept Visual Neurosci, London, England
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
1564
引用
收藏
页数:3
相关论文
共 50 条
  • [21] Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
    Xing, Dongjun
    Yu, Rongguo
    Wang, Linni
    Hu, Liying
    Yang, Yang
    Li, Chang
    Li, Zhiqing
    Li, Xiaorong
    BMC OPHTHALMOLOGY, 2022, 22 (01)
  • [22] Retinal Histopathology in Eyes from a Patient with Digenic Usher Syndrome Caused by Mutations in USH2A and GPR98
    Marino, Meghan J.
    Bonilha, Vera L.
    Rayborn, Mary E.
    Bell, Brent A.
    Kimberling, William J.
    Traboulsi, Elias I.
    Hagstrom, Stephanie A.
    Hollyfield, Joe G.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [23] Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex
    Sorusch, Nasrin
    Bauss, Katharina
    Plutniok, Janet
    Samanta, Ananya
    Knapp, Barbara
    Nagel-Wolfrum, Kerstin
    Wolfrum, Uwe
    HUMAN MOLECULAR GENETICS, 2017, 26 (06) : 1157 - 1172
  • [24] Mutational frequencies in usherin (USH2A gene) in 26 Colombian individuals with Usher syndrome type II
    Lopez, Greizy
    Yaneth Gelvez, Nancy
    Tamayo, Martalucia
    BIOMEDICA, 2011, 31 (01): : 82 - 90
  • [25] Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
    Huang, Xiu-Feng
    Xiang, Ping
    Chen, Jie
    Xing, Dong-Jun
    Huang, Na
    Min, Qingjie
    Gu, Feng
    Tong, Yi
    Pang, Chi-Pui
    Qu, Jia
    Jin, Zi-Bing
    PLOS ONE, 2013, 8 (05):
  • [26] Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
    Dongjun Xing
    Rongguo Yu
    Linni Wang
    Liying Hu
    Yang Yang
    Chang Li
    Zhiqing Li
    Xiaorong Li
    BMC Ophthalmology, 22
  • [27] Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
    Xu, Wenjun
    Dai, Hanjun
    Lu, Tingting
    Zhang, Xiaohui
    Dong, Bing
    Li, Yang
    MOLECULAR VISION, 2011, 17 (172-74): : 1537 - 1552
  • [28] Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
    McGee, Terri L.
    Seyedahmadi, Babak Jian
    Sweeney, Meredith O.
    Dryja, Thaddeus P.
    Berson, Eliot L.
    JOURNAL OF MEDICAL GENETICS, 2010, 47 (07) : 499 - 506
  • [29] Novel USH2A gene mutations and USH phenocopies described as a part of prospective Russian Usher syndrome clinical trial
    Weener, Marianna E.
    Avanesova, Tatiana A.
    Shibanova, Varvara A.
    Markova, Tatiana G.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [30] Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene
    Neissi, Mostafa
    Mohammadi-Asl, Javad
    Mohammadi-Asl, Misagh
    Roghani, Mojdeh
    Sheikh-Hosseini, Motahareh
    Al-Badran, Adnan Issa
    CELL JOURNAL, 2024, 26 (06) : 392 - 397