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 *

361 related articles for article (PubMed ID: 16470690)

  • 1. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.
    Vanita V; Singh D; Robinson PN; Sperling K; Singh JR
    Am J Med Genet A; 2006 Mar; 140(6):558-66. PubMed ID: 16470690
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
    Jamieson RV; Perveen R; Kerr B; Carette M; Yardley J; Heon E; Wirth MG; van Heyningen V; Donnai D; Munier F; Black GC
    Hum Mol Genet; 2002 Jan; 11(1):33-42. PubMed ID: 11772997
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
    Hansen L; Eiberg H; Rosenberg T
    Mol Vis; 2007 Oct; 13():2019-22. PubMed ID: 17982426
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
    Vanita V; Singh JR; Singh D; Varon R; Sperling K
    Mol Vis; 2009; 15():476-81. PubMed ID: 19262743
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
    Nandrot E; Slingsby C; Basak A; Cherif-Chefchaouni M; Benazzouz B; Hajaji Y; Boutayeb S; Gribouval O; Arbogast L; Berraho A; Abitbol M; Hilal L
    J Med Genet; 2003 Apr; 40(4):262-7. PubMed ID: 12676897
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
    Xiao X; Li W; Wang P; Li L; Li S; Jia X; Sun W; Guo X; Zhang Q
    Mol Vis; 2011; 17():2049-55. PubMed ID: 21850180
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
    Berry V; Ionides AC; Moore AT; Bhattacharya SS
    Eur J Hum Genet; 2011 Dec; 19(12):1289-91. PubMed ID: 21731060
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
    Li F; Wang S; Gao C; Liu S; Zhao B; Zhang M; Huang S; Zhu S; Ma X
    Mol Vis; 2008 Mar; 14():378-86. PubMed ID: 18334953
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD; Patterson B; Craig JE; Russell-Eggitt IM; Wirth MG; Burdon KP; Hewitt AW; Cohn AC; Kerdraon Y; Mackey DA
    Br J Ophthalmol; 2005 Jul; 89(7):831-4. PubMed ID: 15965161
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.
    Vanita ; Singh JR; Sarhadi VK; Singh D; Reis A; Rueschendorf F; Becker-Follmann J; Jung M; Sperling K
    Am J Hum Genet; 2001 Feb; 68(2):509-14. PubMed ID: 11133359
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
    Dudakova L; Stranecky V; Ulmanova O; Hlavova E; Trková M; Vincent AL; Liskova P
    Mol Biol Rep; 2017 Dec; 44(6):435-440. PubMed ID: 28849415
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.