Autosomal Dominant Retinitis Pigmentosa

被引：27
|
作者：
Tsang, Stephen H. [1 ,2 ]
Sharma, Tarun [2 ]
机构：
[1] Columbia Univ, Vagelos Coll Phys & Surg,Inst Human Nutr,Dept Pat, Jonas Childrens Vis Care,Dept Ophthalmol,Dept Bio, Bernard & Shirlee Brown Glaucoma Lab,Columbia Ste, New York, NY USA
[2] Columbia Univ, Edward S Harkness Eye Inst, NewYork Presbyterian Hosp, Dept Ophthalmol, New York, NY 10027 USA
来源：
ATLAS OF INHERITED RETINAL DISEASES | 2018年 / 1085卷
关键词：
D O I：
10.1007/978-3-319-95046-4_15
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页码：69 / 77
页数：9
相关论文
共 50 条
  • [41] SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
    Zhang, Tao
    Bai, Jingshan
    Zhang, Xinyi
    Zheng, Xiaowei
    Lu, Nan
    Liang, Zhongyin
    Lin, Ling
    Chen, Yongsong
    [J]. FRONTIERS IN MEDICINE, 2021, 7
  • [42] Model system for linkage testing in families with autosomal dominant retinitis pigmentosa
    Daiger, SP
    Sullivan, LS
    Blanton, SH
    Garcia, CA
    Birch, DG
    Heckenlively, JR
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1996, 37 (03) : 3063 - 3063
  • [43] A possible epistatic interaction of two variants in autosomal dominant retinitis pigmentosa
    Zinchenko, R. A.
    Vasilyeva, T. A.
    Kadyshev, V. V.
    Marakhonov, A. V.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 204 - 205
  • [44] RHODOPSIN transcriptional silencing & replacement for the treatment of autosomal dominant Retinitis Pigmentosa
    Surace, Enrico Maria
    Botta, Salvatore
    Marrocco, Elena
    de Prisco, Nicola
    Sofia, Martina
    Lupo, Mariangela
    Gesualdo, Carlo
    Rossi, Settimio
    Simonelli, Francesca
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [45] Multiple copies of rhodopsin as a novel cause of autosomal dominant retinitis pigmentosa
    Duncan, Jacque L.
    Trzupek, Karmen
    Fisher, Joan
    Kenney, Leilla
    Tuupanen, Sari
    Mehine, Miika
    Daiger, Stephen P.
    Mansfield, Brian
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [46] Novel mutations identified in a screen of patients with autosomal dominant retinitis pigmentosa
    Sullivan, LS
    Browne, SJ
    Hills, MM
    Heckenlively, JR
    Birch, DG
    Hughbanks-Wheaton, D
    Liebelt, JE
    Daiger, SP
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U397 - U397
  • [47] HISTOPATHOLOGY AND IMMUNOCYTOCHEMISTRY OF THE RETINAS OF A PATIENT WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
    REIDY, CM
    [J]. CLINICAL RESEARCH, 1993, 41 (01): : A18 - A18
  • [48] PRPF4 mutations cause autosomal dominant retinitis pigmentosa
    Chen, Xue
    Liu, Yuan
    Sheng, Xunlun
    Tam, Pancy O. S.
    Zhao, Kanxing
    Chen, Xuejuan
    Rong, Weining
    Liu, Yani
    Liu, Xiaoxing
    Pan, Xinyuan
    Chen, Li Jia
    Zhao, Qingshun
    Vollrath, Douglas
    Pang, Chi Pui
    Zhao, Chen
    [J]. HUMAN MOLECULAR GENETICS, 2014, 23 (11) : 2926 - 2939
  • [49] Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden
    Golovleva, Irina
    Kohn, Linda
    Burstedt, Marie
    Daiger, Stephen
    Sandgren, Ola
    [J]. RETINAL DEGENERATIVE DISEASES: LABORATORY AND THERAPEUTIC INVESTIGATIONS, 2010, 664 : 255 - 262
  • [50] Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa
    Sullivan, Lori S.
    Bowne, Sara J.
    Reeves, Melissa J.
    Blain, Delphine
    Goetz, Kerry
    NDifor, Vida
    Vitez, Sally
    Wang, Xinjing
    Tumminia, Santa J.
    Daiger, Stephen P.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (09) : 6255 - 6261
12345