X-Linked Recessive Mutations in Simplex Males With Retinitis Pigmentosa

被引:0
|
作者
Brumm, M. V. [1 ]
Branham, K. [1 ]
Othman, M. [1 ]
Karoukis, A. J. [1 ]
Weleber, R. G. [2 ]
Iannaccone, A. [3 ]
Jacobson, S. G. [4 ]
Swaroop, A. [1 ,5 ]
Heckenlively, J. R. [1 ]
机构
[1] Univ Michigan, Kellogg Eye Ctr, Dept Ophthalmol & Visual Sci, Ann Arbor, MI 48109 USA
[2] Oregon Hlth & Sci Univ, Casey Eye Inst, Portland, OR 97201 USA
[3] Univ Tennessee, Dept Ophthalmol, Hlth Sci Ctr, Hamilton Eye Inst, Memphis, TN USA
[4] Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA
[5] NEI, Neurobiol Neurodegenerat & Repair Lab, Bethesda, MD 20892 USA
关键词
retinal degenerations: hereditary; gene screening;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
1399
引用
收藏
页数:3
相关论文
共 50 条
  • [41] GENETIC AETIOLOGY OF X-LINKED RETINITIS PIGMENTOSA IN AUSTRALIA
    Lamey, Tina
    McLaren, Terri
    Thompson, Jennifer
    Ruddle, Jonathan
    Hoffmann, Ling
    Campbell, Isabella
    De Roach, John
    [J]. CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2017, 45 : 103 - 104
  • [42] VISION THRESHOLD PROFILES IN X-LINKED RETINITIS PIGMENTOSA
    MASSOF, RW
    FINKELSTEIN, D
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1979, 18 (04) : 426 - 429
  • [43] Gene therapy for the treatment of X-linked retinitis pigmentosa
    De La Camara, Cristina Martinez-Fernandez
    Nanda, Anika
    Salvetti, Anna Paola
    Fischer, M. Dominik
    MacLaren, Robert E.
    [J]. EXPERT OPINION ON ORPHAN DRUGS, 2018, 6 (03): : 167 - 177
  • [44] Mutations in X-linked RPGR in families with apparent autosomal dominant retinitis pigmentosa (adRP)
    Gire, A
    Bowne, SJ
    Sullivan, LS
    Birch, DG
    Hughbanks-Wheaton, D
    Heckenlively, JR
    Daiger, SP
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U399 - U399
  • [45] Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
    Sandberg, Michael A.
    Rosner, Bernard
    Weigel-DiFranco, Carol
    Dryja, Thaddeus P.
    Berson, Eliot L.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (03) : 1298 - 1304
  • [46] Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa
    Ji, Yanli
    Wang, Juan
    Xiao, Xueshan
    Li, Shiqiang
    Guo, Xiangming
    Zhang, Qingjiong
    [J]. CURRENT EYE RESEARCH, 2010, 35 (01) : 73 - 79
  • [47] Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
    Buraczynska, M
    Wu, WP
    Fujita, R
    Buraczynska, K
    Phelps, E
    Andréasson, S
    Bennett, J
    Birch, DG
    Fishman, GA
    Hoffman, DR
    Inana, G
    Jacobson, SG
    Musarella, MA
    Sieving, PA
    Swaroop, A
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) : 1287 - 1292
  • [48] Somatic and gonadal mosaicism in x-linked retinitis pigmentosa
    Jin, Zi-Bing
    Gu, Feng
    Matsuda, Hirokazu
    Yukawa, Nobuhiro
    Ma, Xu
    Nao-i, Nobuhisa
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (21) : 2544 - 2548
  • [49] Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients
    Gan, De-Kang
    He, Chen-Liang
    Shu, Hai-Rong
    Hoffman, Matthew R.
    Jin, Zi-Bing
    [J]. NEUROSCIENCE LETTERS, 2011, 500 (01) : 16 - 19
  • [50] Mutation analysis in patients with X-linked retinitis pigmentosa
    D'Urso, M
    Miano, MG
    Testa, F
    Simonelli, F
    Baiget, M
    Ciccodicola, A
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (04) : S469 - S469