BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 27081207)

  • 1. Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.
    Yuan L; Yi J; Lin Q; Xu H; Deng X; Xiong W; Xiao J; Jiang C; Yuan X; Chen Y; Deng H
    QJM; 2016 Nov; 109(11):731-735. PubMed ID: 27081207
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.
    Shen C; Wang J; Wu X; Wang F; Liu Y; Guo X; Zhang L; Cao Y; Cao X; Ma H
    BMC Ophthalmol; 2017 May; 17(1):73. PubMed ID: 28526010
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
    Ren M; Yang XG; Dang XJ; Xiao JA
    Graefes Arch Clin Exp Ophthalmol; 2017 Jan; 255(1):141-151. PubMed ID: 27785597
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
    Guo Y; Yuan L; Yi J; Xiao J; Xu H; Lv H; Xiong W; Zheng W; Guan L; Zhang J; Xiang H; Qi Y; Deng H
    Indian J Biochem Biophys; 2013 Aug; 50(4):253-8. PubMed ID: 24772942
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.
    Zhang L; Liang Y; Zhou Y; Zeng H; Jia S; Shi J
    Tohoku J Exp Med; 2018 Feb; 244(2):105-111. PubMed ID: 29434075
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel GJA3 mutation in congenital nuclear cataract.
    Yuan L; Guo Y; Yi J; Xiao J; Yuan J; Xiong W; Xu H; Yang Z; Zhang J; Deng H
    Optom Vis Sci; 2015 Mar; 92(3):337-42. PubMed ID: 25635993
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.
    Bu J; He S; Wang L; Li J; Liu J; Zhang X
    Indian J Ophthalmol; 2016 May; 64(5):364-8. PubMed ID: 27380975
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
    Berry V; Ionides A; Pontikos N; Moghul I; Moore AT; Quinlan RA; Michaelides M
    Genes (Basel); 2020 May; 11(5):. PubMed ID: 32384692
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
    Zhou D; Ji H; Wei Z; Guo L; Li Y; Wang T; Zhu Y; Dong X; Wang Y; He L; Xing Q; Zhang L
    Mol Vis; 2013; 19():789-95. PubMed ID: 23592915
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
    Qi C; He Y; Jiang C; Zhang X; Zhu P; Li W; Zhou H; Xue C; Xia X
    Mol Med Rep; 2023 Jun; 27(6):. PubMed ID: 37165913
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole Exome Sequencing Identifies a Novel Mutation in the
    Liu H; Liu H; Tang J; Lin Q; Sun Y; Wang C; Yang H; Khan MR; Peerbux MW; Ahmad S; Bukhari I; Zhu J
    Ann Clin Lab Sci; 2017 Jan; 47(1):92-95. PubMed ID: 28249924
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
    Narumi Y; Nishina S; Tokimitsu M; Aoki Y; Kosaki R; Wakui K; Azuma N; Murata T; Takada F; Fukushima Y; Kosho T
    Am J Med Genet A; 2014 May; 164A(5):1272-6. PubMed ID: 24664492
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel missense mutation of
    Ji Y; Zhao X; Zhang J; Zhang D; Tian C; Zhang L; Zhao Y; Zhao J
    Eur J Ophthalmol; 2021 May; 31(3):1064-1069. PubMed ID: 32223445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract.
    Chen JH; Qiu J; Chen H; Pang CP; Zhang M
    Eye (Lond); 2014 Dec; 28(12):1511-6. PubMed ID: 25301372
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detection of c.139G>A (D47N) mutation in
    Gunda P; Manne M; Adeel SS; Kondareddy RKR; Tirunilai P
    J Genet; 2018 Sep; 97(4):879-885. PubMed ID: 30262699
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
    Micheal S; Siddiqui SN; Zafar SN; Venselaar H; Qamar R; Khan MI; den Hollander AI
    Neurogenetics; 2016 Jan; 17(1):17-23. PubMed ID: 26489929
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.
    Zhang X; Liang C; Liu M; Wang Z; Leng X; Xie S; Tan X; Yang Y; Liu Y
    Int Ophthalmol; 2023 Jan; 43(1):43-50. PubMed ID: 35840783
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
    Kondo Y; Saitsu H; Miyamoto T; Lee BJ; Nishiyama K; Nakashima M; Tsurusaki Y; Doi H; Miyake N; Kim JH; Yu YS; Matsumoto N
    Mol Vis; 2013; 19():384-9. PubMed ID: 23441109
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
    Ma AS; Grigg JR; Ho G; Prokudin I; Farnsworth E; Holman K; Cheng A; Billson FA; Martin F; Fraser C; Mowat D; Smith J; Christodoulou J; Flaherty M; Bennetts B; Jamieson RV
    Hum Mutat; 2016 Apr; 37(4):371-84. PubMed ID: 26694549
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.
    Reis LM; Tyler RC; Semina EV
    Mol Vis; 2014; 20():836-42. PubMed ID: 24940039
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.