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 *

164 related articles for article (PubMed ID: 23255486)

  • 1. Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
    Laurie KJ; Dave A; Straga T; Souzeau E; Chataway T; Sykes MJ; Casey T; Teo T; Pater J; Craig JE; Sharma S; Burdon KP
    Hum Mutat; 2013 Mar; 34(3):435-8. PubMed ID: 23255486
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
    Javadiyan S; Craig JE; Souzeau E; Sharma S; Lower KM; Pater J; Casey T; Hodson T; Burdon KP
    BMC Res Notes; 2016 Feb; 9():83. PubMed ID: 26867756
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
    Gu F; Li R; Ma XX; Shi LS; Huang SZ; Ma X
    Mol Vis; 2006 Jan; 12():26-31. PubMed ID: 16446699
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
    Zenteno JC; Morales ME; Moran-Barroso V; Sanchez-Navarro A
    Mol Vis; 2005 Jun; 11():438-42. PubMed ID: 16030500
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
    Gu F; Luo W; Li X; Wang Z; Lu S; Zhang M; Zhao B; Zhu S; Feng S; Yan YB; Huang S; Ma X
    Hum Mutat; 2008 May; 29(5):769. PubMed ID: 18407550
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
    Hansen L; Yao W; Eiberg H; Kjaer KW; Baggesen K; Hejtmancik JF; Rosenberg T
    Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):3937-44. PubMed ID: 17724170
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
    Faletra F; d'Adamo AP; Pensiero S; Athanasakis E; Catalano D; Bruno I; Gasparini P
    Ophthalmic Genet; 2013; 34(1-2):115-7. PubMed ID: 22846113
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
    Sun H; Ma Z; Li Y; Liu B; Li Z; Ding X; Gao Y; Ma W; Tang X; Li X; Shen Y
    J Med Genet; 2005 Sep; 42(9):706-10. PubMed ID: 16141006
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
    Khan AO; Aldahmesh MA; Meyer B
    Am J Ophthalmol; 2007 Dec; 144(6):949-952. PubMed ID: 17937925
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene].
    Qi YH; Jia HY; Huang SZ; Lin H; Gu JZ; Su H; Zhang TY; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Dec; 20(6):486-9. PubMed ID: 14669215
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.
    Li Y; Wang J; Dong B; Man H
    Mol Vis; 2004 Sep; 10():668-71. PubMed ID: 15448617
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetics of crystallins: cataract and beyond.
    Graw J
    Exp Eye Res; 2009 Feb; 88(2):173-89. PubMed ID: 19007775
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataract.
    Zhang LY; Yam GH; Fan DS; Tam PO; Lam DS; Pang CP
    Mol Vis; 2007 Nov; 13():2096-104. PubMed ID: 18079686
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
    Devi RR; Reena C; Vijayalakshmi P
    Mol Vis; 2005 Oct; 11():846-52. PubMed ID: 16254549
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [The genetics of hereditary cataract].
    Beby F; Morle L; Michon L; M B; Edery P; Burillon C; Denis P
    J Fr Ophtalmol; 2003 Apr; 26(4):400-8. PubMed ID: 12843900
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
    Addison PK; Berry V; Holden KR; Espinal D; Rivera B; Su H; Srivastava AK; Bhattacharya SS
    Mol Vis; 2006 Jul; 12():791-5. PubMed ID: 16885921
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.
    Wang J; Ma X; Gu F; Liu NP; Hao XL; Wang KJ; Wang NL; Zhu SQ
    Chin Med J (Engl); 2007 May; 120(9):820-4. PubMed ID: 17531125
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.
    Kong XD; Liu N; Shi HR; Dong JM; Zhao ZH; Liu J; Li-Ling J; Yang YX
    Genet Mol Res; 2015 Jan; 14(1):426-32. PubMed ID: 25729975
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
    Li XQ; Cai HC; Zhou SY; Yang JH; Xi YB; Gao XB; Zhao WJ; Li P; Zhao GY; Tong Y; Bao FC; Ma Y; Wang S; Yan YB; Lu CL; Ma X
    Hum Mutat; 2012 Feb; 33(2):391-401. PubMed ID: 22052681
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
    Riazuddin SA; Yasmeen A; Yao W; Sergeev YV; Zhang Q; Zulfiqar F; Riaz A; Riazuddin S; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):2100-6. PubMed ID: 15914629
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.