A natural history study of GUCY2D-associated cone-rod dystrophy

被引:0
|
作者
Scopelliti, Amanda [1 ]
Jamieson, Robyn [2 ,3 ]
Rajagopalan, Sulekha [4 ]
Grigg, John [1 ,3 ]
机构
[1] Univ Sydney, Sydney, NSW, Australia
[2] Childrens Med Res Inst, Eye Genet Res Unit, Sydney, NSW, Australia
[3] Save Sight Inst, Sydney, NSW, Australia
[4] Liverpool Hosp, Dept Clin Genet, Sydney, NSW, Australia
来源
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:905 / 905
页数:1
相关论文
共 50 条
  • [1] 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
  • [2] 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)
  • [3] A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy
    Amanda J. Scopelliti
    Robyn V. Jamieson
    Elizabeth H. Barnes
    Benjamin Nash
    Sulekha Rajagopalan
    Elisa L. Cornish
    John R. Grigg
    Documenta Ophthalmologica, 2023, 147 : 189 - 201
  • [4] 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
  • [5] 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, 2022, 129 (09) : 967 - 967
  • [6] 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
  • [7] Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy
    Ito, S
    Nakamura, M
    Nuno, Y
    Ohnishi, Y
    Nishida, T
    Miyake, Y
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 (05) : 1480 - 1485
  • [8] Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
    Rodilla, Cristina
    Martin-Merida, Inmaculada
    Blanco-Kelly, Fiona
    Trujillo-Tiebas, Maria Jose
    Avila-Fernandez, Almudena
    Riveiro-Alvarez, Rosa
    Del Pozo-Valero, Marta
    Perea-Romero, Irene
    Swafiri, Saoud Tahsin
    Zurita, Olga
    Villaverde, Cristina
    Lopez, Miguel Angel
    Romero, Raquel
    Iancu, Ionut Florin
    Nunez-Moreno, Gonzalo
    Jimenez-Rolando, Belen
    Martin-Gutierrez, Maria Pilar
    Carreno, Ester
    Minguez, Pablo
    Garcia-Sandoval, Blanca
    Ayuso, Carmen
    Corton, Marta
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2023, 254 : 87 - 103
  • [9] Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D
    Xu, Fei
    Dong, Fangtian
    Li, Hui
    Li, Xin
    Jiang, Ruxin
    Sui, Ruifang
    DOCUMENTA OPHTHALMOLOGICA, 2013, 126 (03) : 233 - 240
  • [10] An AAV-CRISPR/Cas9 gene editing approach for GUCY2D-associated cone rod dystrophy (CORD6)
    Mccullough, Kevin
    Boye, Sanford L.
    Fajardo, Diego
    Strang, Christianne E.
    Witherspoon, Douglas C.
    Gloskowski, Sebastian
    Dass, Abhishek
    Gamlin, Paul D.
    Maeder, Morgan
    Boye, Shannon Elizabeth
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)