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 *

191 related articles for article (PubMed ID: 9788845)

  • 1. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
    Kannabiran C; Rogan PK; Olmos L; Basti S; Rao GN; Kaiser-Kupfer M; Hejtmancik JF
    Mol Vis; 1998 Oct; 4():21. PubMed ID: 9788845
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.
    Bateman JB; Geyer DD; Flodman P; Johannes M; Sikela J; Walter N; Moreira AT; Clancy K; Spence MA
    Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3278-85. PubMed ID: 11006214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse.
    Graw J; Jung M; Löster J; Klopp N; Soewarto D; Fella C; Fuchs H; Reis A; Wolf E; Balling R; Hrabé de Angelis M
    Genomics; 1999 Nov; 62(1):67-73. PubMed ID: 10585769
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
    Graw J; Löster J; Soewarto D; Fuchs H; Meyer B; Reis A; Wolf E; Balling R; Hrabé de Angelis M
    Invest Ophthalmol Vis Sci; 2001 Nov; 42(12):2909-15. PubMed ID: 11687536
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A new locus for autosomal dominant congenital cataracts maps to chromosome 3.
    Kramer PL; LaMorticella D; Schilling K; Billingslea AM; Weleber RG; Litt M
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):36-9. PubMed ID: 10634598
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of a 1-bp deletion in the gammaE-crystallin gene leading to a nuclear and zonular cataract in the mouse.
    Klopp N; Löster J; Graw J
    Invest Ophthalmol Vis Sci; 2001 Jan; 42(1):183-7. PubMed ID: 11133865
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse.
    Graw J; Löster J; Soewarto D; Fuchs H; Reis A; Wolf E; Balling R; Hrabé de Angelis M
    Invest Ophthalmol Vis Sci; 2001 Jun; 42(7):1574-80. PubMed ID: 11381063
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
    Bennett TM; Mackay DS; Knopf HL; Shiels A
    Mol Vis; 2004 Jun; 10():376-82. PubMed ID: 15208569
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.
    Ma Z; Yao W; Chan CC; Kannabiran C; Wawrousek E; Hejtmancik JF
    Biochim Biophys Acta; 2016 Jun; 1862(6):1214-27. PubMed ID: 26851658
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
    Pauli S; Söker T; Klopp N; Illig T; Engel W; Graw J
    Mol Vis; 2007 Jun; 13():962-7. PubMed ID: 17653036
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Posterior polar cataract: genetic analysis of a large family.
    Finzi S; Li Y; Mitchell TN; Farr A; Maumenee IH; Sallum JM; Sundin O
    Ophthalmic Genet; 2005 Sep; 26(3):125-30. PubMed ID: 16272057
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.