BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 16960806)

  • 1. CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
    Billingsley G; Santhiya ST; Paterson AD; Ogata K; Wodak S; Hosseini SM; Manisastry SM; Vijayalakshmi P; Gopinath PM; Graw J; Héon E
    Am J Hum Genet; 2006 Oct; 79(4):702-9. PubMed ID: 16960806
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
    Yang J; Zhu Y; Gu F; He X; Cao Z; Li X; Tong Y; Ma X
    Mol Vis; 2008 Apr; 14():727-31. PubMed ID: 18432316
    [TBL] [Abstract][Full Text] [Related]  

  • 3. In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.
    Wang Z; Huang C; Lv H; Zhang M; Li X
    PLoS One; 2020; 15(1):e0227859. PubMed ID: 31935276
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
    Zhou G; Zhou N; Hu S; Zhao L; Zhang C; Qi Y
    Mol Vis; 2010 Jun; 16():1019-24. PubMed ID: 20577656
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
    Song Z; Si N; Xiao W
    BMC Med Genet; 2018 Oct; 19(1):190. PubMed ID: 30340470
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
    Li FF; Zhu SQ; Wang SZ; Gao C; Huang SZ; Zhang M; Ma X
    Mol Vis; 2008 Apr; 14():750-5. PubMed ID: 18449377
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.
    Bateman JB; von-Bischhoffshaunsen FR; Richter L; Flodman P; Burch D; Spence MA
    Ophthalmology; 2007 Mar; 114(3):425-32. PubMed ID: 17234267
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
    Weisschuh N; Aisenbrey S; Wissinger B; Riess A
    Mol Vis; 2012; 18():174-80. PubMed ID: 22312185
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
    Wang KJ; Wang S; Cao NQ; Yan YB; Zhu SQ
    Hum Mutat; 2011 Mar; 32(3):E2050-60. PubMed ID: 21972112
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
    Mackay DS; Boskovska OB; Knopf HL; Lampi KJ; Shiels A
    Am J Hum Genet; 2002 Nov; 71(5):1216-21. PubMed ID: 12360425
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
    Abouzeid H; Meire FM; Osman I; ElShakankiri N; Bolay S; Munier FL; Schorderet DF
    Ophthalmology; 2009 Jan; 116(1):154-162.e1. PubMed ID: 19004499
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
    Siggs OM; Javadiyan S; Sharma S; Souzeau E; Lower KM; Taranath DA; Black J; Pater J; Willoughby JG; Burdon KP; Craig JE
    Eur J Hum Genet; 2017 Jun; 25(6):711-718. PubMed ID: 28272538
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.
    Jiao X; Kabir F; Irum B; Khan AO; Wang Q; Li D; Khan AA; Husnain T; Akram J; Riazuddin S; Hejtmancik JF; Riazuddin SA
    PLoS One; 2016; 11(6):e0157005. PubMed ID: 27326458
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
    Qi Y; Jia H; Huang S; Lin H; Gu J; Su H; Zhang T; Gao Y; Qu L; Li D; Li Y
    Hum Genet; 2004 Jan; 114(2):192-7. PubMed ID: 14598164
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Crystallin gene mutations in Indian families with inherited pediatric cataract.
    Devi RR; Yao W; Vijayalakshmi P; Sergeev YV; Sundaresan P; Hejtmancik JF
    Mol Vis; 2008 Jun; 14():1157-70. PubMed ID: 18587492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
    Santhiya ST; Manisastry SM; Rawlley D; Malathi R; Anishetty S; Gopinath PM; Vijayalakshmi P; Namperumalsamy P; Adamski J; Graw J
    Invest Ophthalmol Vis Sci; 2004 Oct; 45(10):3599-607. PubMed ID: 15452067
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.