CRX mutations in patients with phenotypes resembling Stargardt disease

被引:0
|
作者
Xie, Yajing [1 ]
Tsang, Stephen H. [1 ,2 ]
Ayuso, Carmen [3 ]
Lee, Winston [1 ]
Jhangiani, Shalini N. [4 ]
Gambin, Tomasz [4 ]
Yuan, Bo [4 ]
Lupski, James R. [4 ]
Allikmets, Rando [1 ,2 ]
机构
[1] Columbia Univ, Opthalmol, New York, NY USA
[2] Columbia Univ, Pathol & Cell Biol, New York, NY USA
[3] Univ Hosp Fdn Jimenez Diaz, Clin Genet, Madrid, Spain
[4] Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA
关键词
539; genetics; 537 gene screening; 696 retinal degenerations: hereditary;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
3256
引用
收藏
页数:2
相关论文
共 50 条
  • [31] Disruption in Bruch membrane in patients with Stargardt disease
    Park, Sung Pyo
    Chang, Stanley
    Allikmets, Rando
    Smith, R. Theodore
    Burke, Tomas R.
    Gregory-Roberts, Emily
    Tsang, Stephen H.
    OPHTHALMIC GENETICS, 2012, 33 (01) : 49 - 52
  • [32] The Effect of Light Deprivation in Patients With Stargardt Disease
    Teussink, Michel M.
    Lee, Michele D.
    Smith, R. Theodore
    van Huet, Ramon A. C.
    Klaver, Caroline C.
    Klevering, B. Jeroen
    Theelen, Thomas
    Hoyng, Carel B.
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2015, 159 (05) : 964 - 972
  • [33] Visual rehabilitation of patients with Stargardt's disease
    Shah, Mufarriq
    Zaman, Mir
    Khan, Muhammad Tariq
    Khan, Muhammad Daud
    JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2008, 18 (05): : 294 - 298
  • [34] Epiretinal membrane removal in patients with Stargardt disease
    Bhende, Muna
    Appukuttan, Bindu
    Rishi, Ekta
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2015, 63 (01) : 66 - 68
  • [35] Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation
    Gerth, C
    Andrassi-Darida, M
    Bock, M
    Preising, MN
    Weber, BHF
    Lorenz, B
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2002, 240 (08) : 628 - 638
  • [36] CRX mutations and clinical phenotype in Japanese patients with cone(-rod) dystrophy.
    Ito, S
    Nakamura, M
    Suzuki, S
    Terasaki, H
    Miyake, Y
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S640 - S640
  • [37] Identification of 4 novel mutations in the ABCA4 gene in brazilian patients with Stargardt disease type I
    Purissimo, Rafael
    Avila, Marcos P.
    Chiang, John
    Alves, Leticia Dourado
    Freitas, Luiz G.
    Cruvinel, Ricardo C.
    Sousa, Claudia
    Paiva, Carolina B.
    Yamamoto, Rafael
    Rassi Gabriel, Luis Alexandre
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [38] Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
    Sciezynska, Aneta
    Soszynska, Marta
    Komorowski, Michal
    Podgorska, Anna
    Krzesniak, Natalia
    Nogowska, Aleksandra
    Smolinska, Martyna
    Szulborski, Kamil
    Szaflik, Jacek P.
    Noszczyk, Bartlomiej
    Oldak, Monika
    Malejczyk, Jacek
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (10)
  • [39] Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease
    Battu, Rajani
    Verma, Anshuman
    Hariharan, Ramesh
    Krishna, Shuba
    Kiran, Ravi
    Jacob, Jemima
    Ganapathy, Aparna
    Ramprasad, Vedam L.
    Kumaramanickavel, Govindasamy
    Jeyabalan, Nallathambi
    Ghosh, Arkasubhra
    BIOMED RESEARCH INTERNATIONAL, 2015, 2015
  • [40] Stargardt Disease
    Tsang, Stephen H.
    Sharma, Tarun
    ATLAS OF INHERITED RETINAL DISEASES, 2018, 1085 : 139 - 151