These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 17982427)

  • 1. The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.
    Cui X; Gao L; Jin Y; Zhang Y; Bai J; Feng G; Gao W; Liu P; He L; Fu S
    Mol Vis; 2007 Oct; 13():2023-9. PubMed ID: 17982427
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
    Zhang Q; Guo X; Xiao X; Yi J; Jia X; Hejtmancik JF
    Mol Vis; 2004 Nov; 10():890-900. PubMed ID: 15570218
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.
    Zhang L; Gao L; Li Z; Qin W; Gao W; Cui X; Feng G; Fu S; He L; Liu P
    Mol Vis; 2006 Dec; 12():1626-31. PubMed ID: 17200662
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
    Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ
    Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
    Jakobs PM; Hess JF; FitzGerald PG; Kramer P; Weleber RG; Litt M
    Am J Hum Genet; 2000 Apr; 66(4):1432-6. PubMed ID: 10739768
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23.
    Li N; Yang Y; Bu J; Zhao C; Lu S; Zhao J; Yan L; Cui L; Zheng R; Li J; Tang J; Zhao K
    Mol Vis; 2006 Dec; 12():1506-10. PubMed ID: 17167408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
    Liu Q; Wang KJ; Zhu SQ
    Curr Eye Res; 2014 Oct; 39(10):1013-9. PubMed ID: 24654948
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
    Conley YP; Erturk D; Keverline A; Mah TS; Keravala A; Barnes LR; Bruchis A; Hess JF; FitzGerald PG; Weeks DE; Ferrell RE; Gorin MB
    Am J Hum Genet; 2000 Apr; 66(4):1426-31. PubMed ID: 10729115
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.
    Lin H; Hejtmancik JF; Qi Y
    Mol Vis; 2007 Sep; 13():1822-7. PubMed ID: 17960133
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
    Wang K; Wang B; Wang J; Zhou S; Yun B; Suo P; Cheng J; Ma X; Zhu S
    Mol Vis; 2009 Dec; 15():2813-20. PubMed ID: 20019893
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
    Ding X; Zhou N; Lin H; Chen J; Zhao C; Zhou G; Hejtmancik JF; Qi Y
    PLoS One; 2014; 9(7):e102733. PubMed ID: 25033405
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.
    Yao K; Tang X; Shentu X; Wang K; Rao H; Xia K
    Mol Vis; 2005 Sep; 11():758-63. PubMed ID: 16179907
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.
    Gu Z; Ji B; Wan C; He G; Zhang J; Zhang M; Feng G; He L; Gao L
    Mol Vis; 2010 Feb; 16():154-60. PubMed ID: 20142846
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
    Vanita V; Hennies HC; Singh D; Nürnberg P; Sperling K; Singh JR
    Mol Vis; 2006 Oct; 12():1217-22. PubMed ID: 17110920
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
    Jiang J; Jin C; Wang W; Tang X; Shentu X; Wu R; Wang Y; Xia K; Yao K
    Mol Vis; 2009; 15():38-44. PubMed ID: 19137077
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
    Wang H; Zhang T; Wu D; Zhang J
    Mol Vis; 2013; 19():2590-5. PubMed ID: 24379646
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
    Guleria K; Sperling K; Singh D; Varon R; Singh JR; Vanita V
    Mol Vis; 2007 Sep; 13():1657-65. PubMed ID: 17893674
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Mapping of a pedigree with autosomal dominant inherited congenital sutural cataract].
    Zhang L; Gao LH; Liu P; Li ZJ; Gao WQ; Qin W; Feng GY; Fu SB; He L
    Zhonghua Yan Ke Za Zhi; 2006 Oct; 42(10):908-12. PubMed ID: 17217785
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
    Zhang L; Zhang Y; Liu P; Cao W; Tang X; Su S
    Mol Vis; 2011; 17():2693-7. PubMed ID: 22065922
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Gene mapping of a pedigree with autosomal dominant congenital cataract].
    Qi YH; Jia HY; Huang SZ; Lin H; Gu JZ; Su H; Zhang TY; Gao Y
    Zhonghua Yan Ke Za Zhi; 2004 Dec; 40(12):824-7. PubMed ID: 15733435
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.