Frequency and functional analysis of mutations in the retinal guanylate cyclase 1 (GUCY2D) gene in patients with dominant cone-rod dystrophies.

被引：0
|
作者：
Hunt, DM
Wilkie, SE
Payne, AM
Downes, SM
Morris, AG
Newbold, RJ
Derry, E
Bhattacharya, SS
Moore, AT
Warren, MJ
机构：
[1] Inst Ophthalmol, Div Mol Genet, London, England
[2] Radcliffe Infirm, Oxford Eye Hosp, Oxford, England
[3] Univ London Queen Mary Coll, Sch Biol Sci, London E1 4NS, England
[4] Addenbrookes Hosp, Cambridge, England
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2001年 / 42卷 / 04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：
3440
引用
收藏
页码：S640 / S640
页数：1
相关论文
共 36 条
  • [21] 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
  • [22] Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy:: Possible use of genotyping microarray
    Yoshida, Shigeo
    Yamaji, Yoko
    Yoshida, Ayako
    Kuwahara, Rumi
    Yamamoto, Ken
    Kubata, Toshiaki
    Ishibashi, Tatsuro
    MOLECULAR VISION, 2006, 12 (177-79): : 1558 - 1564
  • [23] 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
  • [24] Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p:: Hot spots for mutations in autosomal dominant cone-rod dystrophy?
    Weigell-Weber, M
    Fokstuen, S
    Török, B
    Niemeyer, G
    Schinzel, A
    Hergersberg, M
    ARCHIVES OF OPHTHALMOLOGY, 2000, 118 (02) : 300 - 300
  • [25] Comparison of Retinal Degeneration in GUCY2D- and CRX-related Autosomal Dominant Cone-Rod Dystrophy
    Kaur, Gurbani
    Wong, Jessica
    Duret, Stephanie
    Roorda, Austin
    Duncan, Jacque L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [26] Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
    Sato, M
    Nakazawa, M
    Usui, T
    Tanimoto, N
    Abe, H
    Ohguro, H
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2005, 243 (03) : 235 - 242
  • [27] Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
    Motoya Sato
    Mitsuru Nakazawa
    Tomoaki Usui
    Naoyuki Tanimoto
    Haruki Abe
    Hiroshi Ohguro
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2005, 243 : 235 - 242
  • [28] GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY Is There a Phenotypic Difference?
    Zobor, Ditta
    Zrenner, Eberhart
    Wissinger, Bernd
    Kohl, Susanne
    Jaegle, Herbert
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2014, 34 (08): : 1576 - 1587
  • [29] Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration
    Kitiratschky, Veronique B. D.
    Wilke, Robert
    Renner, Agnes B.
    Kellner, Ulrich
    Vadala, Maria
    Birch, David G.
    Wissinger, Bernd
    Zrenner, Eberhart
    Kohl, Susanne
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2008, 49 (11) : 5015 - 5023
  • [30] Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
    Mizobuchi, Kei
    Hayashi, Takaaki
    Katagiri, Satoshi
    Yoshitake, Kazutoshi
    Fujinami, Kaoru
    Yang, Lizhu
    Kuniyoshi, Kazuki
    Shinoda, Kei
    Machida, Shigeki
    Kondo, Mineo
    Ueno, Shinji
    Terasaki, Hiroko
    Matsuura, Tomokazu
    Tsunoda, Kazushige
    Iwata, Takeshi
    Nakano, Tadashi
    SCIENTIFIC REPORTS, 2019, 9 (1)
1234