BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 30095615)

  • 1. A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.
    Wang L; Qi A; Pan H; Liu B; Feng J; Chen W; Wang B
    Medicine (Baltimore); 2018 Aug; 97(32):e11499. PubMed ID: 30095615
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Incomplete penetrance of
    Chapi M; Sabbaghi H; Suri F; Alehabib E; Rahimi-Aliabadi S; Jamali F; Jamshidi J; Emamalizadeh B; Darvish H; Mirrahimi M; Ahmadieh H; Daftarian N
    Ophthalmic Genet; 2019 Jun; 40(3):259-266. PubMed ID: 31215831
    [No Abstract]   [Full Text] [Related]  

  • 3. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.
    Lu QK; Zhao N; Lv YS; Gong WK; Wang HY; Tong QH; Lai XM; Liu RR; Fang MY; Zhang JG; Du ZF; Zhang XN
    Int J Ophthalmol; 2015; 8(6):1112-7. PubMed ID: 26682157
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
    Yi Z; Xiao X; Li S; Sun W; Zhang Q
    Exp Eye Res; 2019 Dec; 189():107846. PubMed ID: 31626798
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous
    Khan AO; Neri P; Al Teneiji AM
    Ophthalmic Genet; 2019 Dec; 40(6):493-499. PubMed ID: 31743059
    [No Abstract]   [Full Text] [Related]  

  • 6. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA; Hébert M; McTaggart KE; Flynn SJ; Tennant MT; MacDonald IM
    Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
    Zou X; Yao F; Liang X; Xu F; Li H; Sui R; Dong F
    Ophthalmic Genet; 2015 Mar; 36(1):21-6. PubMed ID: 24001014
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
    Hull S; Arno G; Plagnol V; Chamney S; Russell-Eggitt I; Thompson D; Ramsden SC; Black GC; Robson AG; Holder GE; Moore AT; Webster AR
    Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6934-44. PubMed ID: 25270190
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina.
    Wang Y; Li X; Yu Y; Liang J; Liu Y; Chen Y; Bai X; Chen J; Wang F; Luo X; Sun X
    Transl Vis Sci Technol; 2021 Jun; 10(7):25. PubMed ID: 34144598
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
    Kitiratschky VB; Nagy D; Zabel T; Zrenner E; Wissinger B; Kohl S; Jägle H
    Br J Ophthalmol; 2008 Aug; 92(8):1086-91. PubMed ID: 18653602
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
    Zhou GH; Ma Y; Li ML; Zhou XY; Mou H; Jin ZB
    Hum Genet; 2020 Nov; 139(11):1391-1401. PubMed ID: 32440726
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
    Huang L; Xiao X; Li S; Jia X; Wang P; Sun W; Xu Y; Xin W; Guo X; Zhang Q
    Exp Eye Res; 2016 May; 146():252-258. PubMed ID: 26992781
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MFSD8 gene mutations; evidence for phenotypic heterogeneity.
    Zare-Abdollahi D; Bushehri A; Alavi A; Dehghani A; Mousavi-Mirkala M; Effati J; Miratashi SAM; Dehani M; Jamali P; Khorram Khorshid HR
    Ophthalmic Genet; 2019 Apr; 40(2):141-145. PubMed ID: 31006324
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
    Kim DG; Joo K; Han J; Choi M; Kim SW; Park KH; Park SJ; Lee CS; Byeon SH; Woo SJ
    Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239417
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations.
    Zhu Y; Tan H; Zeng J; Tao D; Ma Y; Liu Y
    Genes Genomics; 2019 Mar; 41(3):359-366. PubMed ID: 30460480
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
    Wawrocka A; Skorczyk-Werner A; Wicher K; Niedziela Z; Ploski R; Rydzanicz M; Sykulski M; Kociecki J; Weisschuh N; Kohl S; Biskup S; Wissinger B; Krawczynski MR
    Mol Vis; 2018; 24():326-339. PubMed ID: 29769798
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.
    Itabashi T; Wada Y; Sato H; Kunikata H; Kawamura M; Tamai M
    Graefes Arch Clin Exp Ophthalmol; 2003 Jul; 241(7):535-540. PubMed ID: 12819982
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    Abad-Morales V; Burés-Jelstrup A; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcóstegui B; Pomares E
    Exp Eye Res; 2019 Oct; 187():107752. PubMed ID: 31394102
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A mutation in
    Oh JK; Nuzbrokh Y; Lee W; Lima de Carvalho JR; Wang NK; Sparrow JR; Allikmets R; Tsang SH
    Eur J Ophthalmol; 2022 Jan; 32(1):NP235-NP239. PubMed ID: 32927963
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.