Cone-rod dystrophy in Danon disease

被引:0
|
作者
Scott Brodie
机构
[1] The Mount Sinai Medical Center,
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:633 / 633
相关论文
共 50 条
  • [41] NMNAT1 variants cause cone and cone-rod dystrophy
    Benjamin M. Nash
    Richard Symes
    Himanshu Goel
    Marcel E. Dinger
    Bruce Bennetts
    John R. Grigg
    Robyn V. Jamieson
    European Journal of Human Genetics, 2018, 26 : 428 - 433
  • [42] An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta
    Michaelides, M
    Bloch-Zupan, A
    Holder, GE
    Hunt, DM
    Moore, AT
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (06) : 468 - 473
  • [43] CONE-ROD DYSTROPHY - SUBTYPING BY CLINICAL CHARACTERISTICS AND FUNCTIONAL TESTING
    SZLYK, JP
    FISHMAN, GA
    DERLACKI, DJ
    PEACHEY, NS
    ALEXANDER, KR
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1991, 32 (04) : 1144 - 1144
  • [44] Genetic Testing and Clinical Characterization of Patients with Cone-Rod Dystrophy
    Thiadens, Alberta A. H. J.
    Klaver, Caroline C. W.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (12) : 6904 - 6905
  • [45] Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
    Falsini, Benedetto
    Placidi, Giorgio
    De Siena, Elisa
    Chiurazzi, Pietro
    Minnella, Angelo Maria
    Savastano, Maria Cristina
    Ziccardi, Lucia
    Parisi, Vincenzo
    Iarossi, Giancarlo
    Percio, Marcella
    Pitekova, Barbora
    Marceddu, Giuseppe
    Maltese, Paolo Enrico
    Bertelli, Matteo
    SCIENTIFIC REPORTS, 2022, 12 (01):
  • [46] Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy
    Kim, Dong Ju
    Woo, Se Joon
    Joo, Kwangsic
    OPHTHALMIC RESEARCH, 2024, 67 (01) : 9 - 22
  • [47] A Comprehensive Genetic Screen of Patients With Autosomal Dominant Cone and Cone-Rod Dystrophy
    Kohl, S.
    Kitiratschky, V. B. D.
    Wissinger, B.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [48] High-resolution retinal imaging of cone-rod dystrophy
    Wolfing, JI
    Chung, M
    Carroll, J
    Roorda, A
    Williams, DR
    OPHTHALMOLOGY, 2006, 113 (06) : 1014 - 1019
  • [49] CONE-ROD DYSTROPHY - PHENOTYPIC DIVERSITY BY RETINAL FUNCTION TESTING
    YAGASAKI, K
    JACOBSON, SG
    ARCHIVES OF OPHTHALMOLOGY, 1989, 107 (05) : 701 - 708
  • [50] PROGRESSIVE CONE-ROD DYSTROPHY AND HIGH MYOPIA IN A FINNISH FAMILY
    MANTYJARVI, M
    TUPPURAINEN, K
    ACTA OPHTHALMOLOGICA, 1989, 67 (03): : 234 - 242