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 *

202 related articles for article (PubMed ID: 20161820)

  • 1. Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.
    Zhong X; Chen S; Huang W; Yang J; Chen X; Zhou Y; Zhou Q; Wang Y
    Mol Vis; 2010 Feb; 16():224-30. PubMed ID: 20161820
    [TBL] [Abstract][Full Text] [Related]  

  • 2. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.
    Paliwal P; Sharma A; Tandon R; Sharma N; Titiyal JS; Sen S; Kaur P; Dube D; Vajpayee RB
    Mol Vis; 2010 Jul; 16():1429-38. PubMed ID: 20680100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
    Yang J; Han X; Huang D; Yu L; Zhu Y; Tong Y; Zhu B; Li C; Weng M; Ma X
    Mol Vis; 2010 Jun; 16():1186-93. PubMed ID: 20664689
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.
    Chang L; Zhiqun W; Shijing D; Chen Z; Qingfeng L; Li L; Xuguang S
    Arch Ophthalmol; 2009 May; 127(5):641-4. PubMed ID: 19433713
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
    Zhang C; Zeng G; Lin H; Li D; Zhao L; Zhou N; Qi Y
    Mol Vis; 2009 Nov; 15():2498-502. PubMed ID: 19956413
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
    Liu Z; Wang YQ; Gong QH; Xie LX
    Mol Vis; 2008 Jun; 14():1234-9. PubMed ID: 18615206
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.
    Niel-Butschi F; Kantelip B; Iwaszkiewicz J; Zoete V; Boimard M; Delpech M; Bourges JL; Renard G; D'Hermies F; Pisella PJ; Hamel C; Delbosc B; Valleix S
    Mol Vis; 2011; 17():1192-202. PubMed ID: 21617751
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.
    Hou YC; Wang IJ; Hsiao CH; Chen WL; Hu FR
    Mol Vis; 2012; 18():362-71. PubMed ID: 22355247
    [TBL] [Abstract][Full Text] [Related]  

  • 9. TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.
    Liang Q; Sun X; Jin X
    Ophthalmic Physiol Opt; 2012 Jan; 32(1):74-80. PubMed ID: 21899585
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).
    Romero P; Moraga M; Herrera L
    Mol Vis; 2010 Aug; 16():1601-9. PubMed ID: 20806046
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the
    Bouyacoub Y; Falfoul Y; Ouederni M; Sayeb M; Chedli A; Chargui M; Sassi H; Chakroun Chenguel I; Munier FL; El Matri L; Abdelhak S; Cheour M
    Ophthalmic Genet; 2019 Aug; 40(4):329-337. PubMed ID: 31322463
    [No Abstract]   [Full Text] [Related]  

  • 12. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
    Stewart H; Black GC; Donnai D; Bonshek RE; McCarthy J; Morgan S; Dixon MJ; Ridgway AA
    Ophthalmology; 1999 May; 106(5):964-70. PubMed ID: 10328397
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
    Romero P; Vogel M; Diaz JM; Romero MP; Herrera L
    Mol Vis; 2008 May; 14():829-35. PubMed ID: 18470323
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
    Chakravarthi SV; Kannabiran C; Sridhar MS; Vemuganti GK
    Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):121-5. PubMed ID: 15623763
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.
    Cai J; Zhu L; Zha Y; Kang Q
    Genet Test Mol Biomarkers; 2016 Jul; 20(7):388-92. PubMed ID: 27348782
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
    Ma K; Liu G; Yang Y; Yu M; Sui R; Yu W; Chen X; Deng Y; Yan N; Cao G; Liu X
    Mol Vis; 2010 Mar; 16():556-61. PubMed ID: 20360992
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.
    Li F; He J; Bai H; Huang Y; Wang F; Tian L
    Indian J Ophthalmol; 2022 Jan; 70(1):85-89. PubMed ID: 34937214
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy].
    Grünauer-Kloevekorn C; Braeutigam S; Weidle E; Wolter-Roessler M; Tost F; Auw-Haedrich C; Völcker HE; Heinritz W; Froster U; Duncker G
    Klin Monbl Augenheilkd; 2006 Oct; 223(10):829-36. PubMed ID: 17063427
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
    Gruenauer-Kloevekorn C; Clausen I; Weidle E; Wolter-Roessler M; Tost F; Völcker HE; Schulze DP; Heinritz W; Reinhard T; Froster U; Duncker G; Schorderet D; Auw-Haedrich C
    Br J Ophthalmol; 2009 Jul; 93(7):932-7. PubMed ID: 19001012
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.
    Cao W; Ge H; Cui X; Zhang L; Bai J; Fu S; Liu P
    Mol Vis; 2009; 15():70-5. PubMed ID: 19145249
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.