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 *

629 related articles for article (PubMed ID: 26694549)

  • 1. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
    Ma AS; Grigg JR; Ho G; Prokudin I; Farnsworth E; Holman K; Cheng A; Billson FA; Martin F; Fraser C; Mowat D; Smith J; Christodoulou J; Flaherty M; Bennetts B; Jamieson RV
    Hum Mutat; 2016 Apr; 37(4):371-84. PubMed ID: 26694549
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
    Dubey SK; Mahalaxmi N; Vijayalakshmi P; Sundaresan P
    Mol Vis; 2015; 21():88-97. PubMed ID: 25678763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
    Hansen L; Mikkelsen A; Nürnberg P; Nürnberg G; Anjum I; Eiberg H; Rosenberg T
    Invest Ophthalmol Vis Sci; 2009 Jul; 50(7):3291-303. PubMed ID: 19182255
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes.
    Si N; Song Z; Meng X; Li X; Xiao W; Zhang X
    Gene; 2019 Apr; 692():113-118. PubMed ID: 30659945
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
    Fan F; Luo Y; Wu J; Gao C; Liu X; Mei H; Zhou X
    BMC Ophthalmol; 2020 Sep; 20(1):361. PubMed ID: 32883240
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.
    Astiazarán MC; García-Montaño LA; Sánchez-Moreno F; Matiz-Moreno H; Zenteno JC
    Am J Med Genet A; 2018 Dec; 176(12):2637-2645. PubMed ID: 30450742
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.
    Zhai Y; Li J; Yu W; Zhu S; Yu Y; Wu M; Sun G; Gong X; Yao K
    Sci Rep; 2017 Apr; 7(1):1219. PubMed ID: 28450710
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
    Sun W; Xiao X; Li S; Guo X; Zhang Q
    Mol Vis; 2011; 17():1508-13. PubMed ID: 21686328
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
    Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
    Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Personalized diagnosis and management of congenital cataract by next-generation sequencing.
    Gillespie RL; O'Sullivan J; Ashworth J; Bhaskar S; Williams S; Biswas S; Kehdi E; Ramsden SC; Clayton-Smith J; Black GC; Lloyd IC
    Ophthalmology; 2014 Nov; 121(11):2124-37.e1-2. PubMed ID: 25148791
    [TBL] [Abstract][Full Text] [Related]  

  • 14. New mutations in GJA8 expand the phenotype to include total sclerocornea.
    Ma AS; Grigg JR; Prokudin I; Flaherty M; Bennetts B; Jamieson RV
    Clin Genet; 2018 Jan; 93(1):155-159. PubMed ID: 28455998
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
    Prokudin I; Simons C; Grigg JR; Storen R; Kumar V; Phua ZY; Smith J; Flaherty M; Davila S; Jamieson RV
    Eur J Hum Genet; 2014 Jul; 22(7):907-15. PubMed ID: 24281366
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation profiles of congenital cataract genes in 21 northern Chinese families.
    Zhang XH; Da Wang J; Jia HY; Zhang JS; Li Y; Xiong Y; Li J; Li XX; Huang Y; Zhu GY; Rong SS; Wormstone M; Wan XH
    Mol Vis; 2018; 24():471-477. PubMed ID: 30078984
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
    Sun W; Xiao X; Li S; Guo X; Zhang Q
    PLoS One; 2014; 9(6):e100455. PubMed ID: 24968223
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
    Li S; Zhang J; Cao Y; You Y; Zhao X
    BMC Med Genet; 2019 Dec; 20(1):196. PubMed ID: 31842807
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 32.