The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene

被引：0
|
作者：
Hahn, Leo C.
Georgiou, Michalis
Almushattat, Hind
van Schooneveld, Mary J.
de Carvalho, Emanuel R.
Wesseling, Nieneke L.
ten Brink, Jacoline B.
Florijn, Ralph J.
Lissenberg-Witte, Birgit I.
Strubbe, Ine
van Cauwenbergh, Caroline
de Zaeytijd, Julie
Walraedt, Sophie
de Baere, Elfride
Mukherjee, Rajarshi
McKibbin, Martin
Meester-Smoor, Magda A.
Thiadens, Alberta A. H. J.
Al-Khuzaei, Saoud
Akyol, Engin
Lotery, Andrew J.
van Genderen, Maria M.
Ossewaarde-van Norel, Jeannette
van den Born, L. Ingeborgh
Hoyng, Carel B.
Klaver, Caroline C. W.
Downes, Susan M.
Bergen, Arthur A.
Leroy, Bart P.
Michaelides, Michel
Boon, Camiel J. F.
机构：
来源：
OPHTHALMOLOGY | 2022年 / 129卷 / 09期
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：
引用
收藏
页码：967 / 967
页数：1
相关论文
共 50 条
  • [1] The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
    Hahn, Leo C.
    Georgiou, Michalis
    Almushattat, Hind
    van Schooneveld, Mary J.
    de Carvalho, Emanuel R.
    Wesseling, Nieneke L.
    ten Brink, Jacoline B.
    Florijn, Ralph J.
    Lissenberg-Witte, Birgit, I
    Strubbe, Ine
    van Cauwenbergh, Caroline
    de Zaeytijd, Julie
    Walraedt, Sophie
    de Baere, Elfride
    Mukherjee, Rajarshi
    McKibbin, Martin
    Meester-Smoor, Magda A.
    Thiadens, Alberta A. H. J.
    Al-Khuzaei, Saoud
    Akyol, Engin
    Lotery, Andrew J.
    van Genderen, Maria M.
    Ossewaarde-van Norel, Jeannette
    van den Born, L. Ingeborgh
    Hoyng, Carel B.
    Klaver, Caroline C. W.
    Downes, Susan M.
    Bergen, Arthur A.
    Leroy, Bart P.
    Michaelides, Michel
    Boon, Camiel J. F.
    OPHTHALMOLOGY RETINA, 2022, 6 (08): : 711 - 722
  • [2] A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis
    Iseri, Sibel A. Ugur
    Durlu, Yusuf K.
    Tolun, Aslihan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (10) : 1121 - 1126
  • [3] A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis
    Sibel A Ugur Iseri
    Yusuf K Durlu
    Aslihan Tolun
    European Journal of Human Genetics, 2010, 18 : 1121 - 1126
  • [4] Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies
    Bouzia, Zaina Ibrahim
    Georgiou, Michalis
    Hull, Sarah
    Robson, Anthony G.
    Webster, Andrew
    Hardcastle, Alison J.
    Fiorentino, Alessia
    Michaelides, Michel
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [5] A natural history study of GUCY2D-associated cone-rod dystrophy
    Scopelliti, Amanda
    Jamieson, Robyn
    Rajagopalan, Sulekha
    Grigg, John
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2022, 49 (08): : 905 - 905
  • [6] GUCY2D Gene Mutation in a Family with Leber Congenital Amaurosis
    Wu Li
    Li Pengcheng
    Xing Yiqiao
    JOURNAL OF ANIMAL AND VETERINARY ADVANCES, 2012, 11 (16): : 2953 - 2956
  • [7] Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel
    Lazar, Csilla H.
    Mutsuddi, Mousumi
    Kimchi, Adva
    Zelinger, Lina
    Mizrahi-Meissonnier, Liliana
    Marks-Ohana, Devorah
    Boleda, Alexis
    Ratnapriya, Rinki
    Sharon, Dror
    Swaroop, Anand
    Banin, Eyal
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (01) : 420 - 430
  • [8] Leber Congenital Amaurosis Caused by Mutations in GUCY2D
    Boye, Shannon E.
    COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2015, 5 (01):
  • [9] GUCY2D-associated autosomal dominant cone-rod dystrophy: Understanding the natural history
    Scopelliti, Amanda J.
    Jamieson, Robyn V.
    Barnes, Elizabeth H.
    Grigg, John R.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [10] A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy
    Scopelliti, Amanda J.
    Jamieson, Robyn V.
    Barnes, Elizabeth H.
    Nash, Benjamin
    Rajagopalan, Sulekha
    Cornish, Elisa L.
    Grigg, John R.
    DOCUMENTA OPHTHALMOLOGICA, 2023, 147 (03) : 189 - 201
12345