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208 related items for PubMed ID: 20664799

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  • 2. RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
    Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, Pang CP.
    Hum Mutat; 2001 May; 17(5):436. PubMed ID: 11317367
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  • 6. [Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].
    Zhang X, Yeung KY, Pang CP, Fu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Jun; 19(3):194-7. PubMed ID: 12048676
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  • 8. Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.
    Sheng X, Zhang X, Wu W, Zhuang W, Meng R, Rong W.
    Can J Ophthalmol; 2008 Apr; 43(2):208-12. PubMed ID: 18347624
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  • 12. Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
    Li S, Yang M, Liu W, Liu Y, Zhang L, Yang Y, Sundaresan P, Yang Z, Zhu X.
    Genet Test Mol Biomarkers; 2018 Feb; 22(2):109-114. PubMed ID: 29425069
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  • 14. Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
    Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yu HG.
    Mol Vis; 2012 Feb; 18():2398-410. PubMed ID: 23049240
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  • 15. A novel missense RP1 mutation in retinitis pigmentosa.
    Chiang SW, Wang DY, Chan WM, Tam PO, Chong KK, Lam DS, Pang CP.
    Eye (Lond); 2006 May; 20(5):602-5. PubMed ID: 15933747
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  • 16. Screening for mutations in a novel retinal-specific gene among Chinese patients with retinitis pigmentosa.
    Xiaoli Z, Weiling F, Pang CP, Yeung KY.
    Chin Med Sci J; 2002 Dec; 17(4):225-30. PubMed ID: 12901510
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  • 17. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X, Li J, Wang Q, Shu Y, Wang J, Chen L, Zhang H, Shi Y, Yang J, Lu F, Jiang L, Qu C, Gong B.
    Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
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  • 19. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
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  • 20. Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
    Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H.
    Mol Vis; 2019 Jan; 25():35-46. PubMed ID: 30804660
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