Novel mutations causing CRB1 associated retinal degeneration in Czech patients and comparison of methods for mutation detection

被引:0
|
作者
Kousal, Bohdan [1 ,2 ,3 ,4 ]
Dudakova, Lubica [2 ,3 ,4 ]
Gaillyova, Renata [5 ]
Diblik, Pavel [1 ,2 ]
Liskova, Petra [1 ,2 ,3 ]
机构
[1] Charles Univ Prague, Fac Med 1, Dept Ophthalmol, Prague, Czech Republic
[2] Gen Univ Hosp, Prague, Czech Republic
[3] Charles Univ Prague, Inst Inherited Metab Disorders, Lab Biol & Pathol Eye, Prague, Czech Republic
[4] Charles Univ Prague, Fac Med 1, Prague, Czech Republic
[5] Fac Hosp, Dept Genet, Brno, Czech Republic
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
1251
引用
收藏
页数:2
相关论文
共 33 条
  • [1] CRB1 Related Retinal Degeneration with Novel Mutations
    Ghiam, Benjamin Kambiz
    Wood, Edward Hunt
    Thanos, Aristomenis
    Randhawa, Sandeep
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [2] Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies
    Yang, Liping
    Wu, Lemeng
    Yin, Xiaobei
    Chen, Ningning
    Li, Genlin
    Ma, Zhizhong
    MOLECULAR VISION, 2014, 20
  • [3] Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
    Henderson, Robert H.
    Mackay, Donna S.
    Li, Zheng
    Moradi, Phillip
    Sergouniotis, Panagiotis
    Russell-Eggitt, Isabelle
    Thompson, Dorothy A.
    Robson, Anthony G.
    Holder, Graham E.
    Webster, Andrew R.
    Moore, Anthony T.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2011, 95 (06) : 811 - 817
  • [4] Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the CRB1 Gene
    Lenis, Tamara L.
    Botsford, Benjamin W.
    Sarraf, David
    Papakostas, Thanos D.
    JOURNAL OF VITREORETINAL DISEASES, 2022, 6 (04) : 329 - 331
  • [5] Report of a Novel Mutation in CRB1 in a Lebanese Family Presenting Retinal Dystrophy
    Jalkh, Nadine
    Guissart, Claire
    Chouery, Eliane
    Yammine, Tony
    El Ali, Nagham
    Farah, Hanane Abi
    Megarbane, Andre
    OPHTHALMIC GENETICS, 2014, 35 (01) : 57 - 62
  • [6] Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis
    Bustamante-Aragones, Ana
    Vallespin, Elena
    Rodriguez de Alba, Marta
    Jose Trujillo-Tiebas, Maria
    Gonzalez-Gonzalez, Cristina
    Diego-Alvarez, Dan
    Riveiro-Alvarez, Rosa
    Lorda-Sanchez, Isabel
    Ayuso, Carmen
    Ramos, Carmen
    MOLECULAR VISION, 2008, 14 (167-73): : 1388 - 1394
  • [7] CRB1 Gene Mutations Are Associated with Keratoconus in Patients with Leber Congenital Amaurosis
    McMahon, Timothy T.
    Kim, Linda S.
    Fishman, Gerald A.
    Stone, Edwin M.
    Zhao, Xinping C.
    Yee, Richard W.
    Malicki, Jarema
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2009, 50 (07) : 3185 - 3187
  • [8] Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene
    Cordovez, Jose A.
    Traboulsi, Elias I.
    Capasso, Jenina E.
    Sadagopan, Karthikeyan Arcot
    Ganesh, Anuradha
    Rychwalski, Paul J.
    Neely, Kimberly A.
    Brodie, Scott E.
    Levin, Alex V.
    OPHTHALMIC GENETICS, 2015, 36 (03) : 257 - 264
  • [9] Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening
    Li, Shiqiang
    Shen, Tao
    Xiao, Xueshan
    Guo, Xiangming
    Zhang, Qingjiong
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2014, 33 (04) : 913 - 918
  • [10] Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy
    Kazuki Kuniyoshi
    Kazuho Ikeo
    Hiroyuki Sakuramoto
    Masaaki Furuno
    Kazutoshi Yoshitake
    Yoshikazu Hatsukawa
    Akira Nakao
    Kazushige Tsunoda
    Shunji Kusaka
    Yoshikazu Shimomura
    Takeshi Iwata
    Documenta Ophthalmologica, 2015, 130 : 49 - 55