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 *

347 related articles for article (PubMed ID: 17063427)

  • 1. [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]  

  • 2. [Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].
    Grünauer-Kloevekorn C; Bräutigam S; Wolter-Roessler M; Tost F; Weidle E; Froster U; Duncker GI
    Klin Monbl Augenheilkd; 2005 Dec; 222(12):1017-23. PubMed ID: 16380889
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.
    Wheeldon CE; de Karolyi BH; Patel DV; Sherwin T; McGhee CN; Vincent AL
    Mol Vis; 2008 Aug; 14():1503-12. PubMed ID: 18728790
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.
    Takács L; Losonczy G; Matesz K; Balogh I; Sohajda Z; Tóth K; Fazakas F; Vereb G; Berta A
    Mol Vis; 2007 Oct; 13():1976-83. PubMed ID: 17982422
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.
    Paliwal P; Gupta J; Tandon R; Sharma A; Vajpayee RB
    Arch Ophthalmol; 2009 Oct; 127(10):1373-6. PubMed ID: 19822856
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
    Zhao XC; Nakamura H; Subramanyam S; Stock LE; Gillette TE; Yoshikawa S; Ma X; Yee RW
    Ophthalmology; 2007 Nov; 114(11):e39-46. PubMed ID: 17980739
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.
    Zenteno JC; Correa-Gomez V; Santacruz-Valdez C; Suarez-Sanchez R; Villanueva-Mendoza C
    Exp Eye Res; 2009 Aug; 89(2):172-7. PubMed ID: 19303004
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation].
    Mashima Y; Yamada M; Oguchi Y
    Nippon Ganka Gakkai Zasshi; 2001 Oct; 105(10):659-72. PubMed ID: 11692612
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [A research on TGFBI gene mutations in Chinese families with corneal dystrophies].
    Qi YH; He HD; Li Y; Lin H; Gu JZ; Su H; Huang SZ
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):310-2. PubMed ID: 16767671
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
    Afshari NA; Mullally JE; Afshari MA; Steinert RF; Adamis AP; Azar DT; Talamo JH; Dohlman CH; Dryja TP
    Arch Ophthalmol; 2001 Jan; 119(1):16-22. PubMed ID: 11146721
    [TBL] [Abstract][Full Text] [Related]  

  • 13. TGFBI gene mutations in Brazilian patients with corneal dystrophy.
    Solari HP; Ventura MP; Perez AB; Sallum JM; Burnier MN; Belfort R
    Eye (Lond); 2007 May; 21(5):587-90. PubMed ID: 16440005
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.
    Yu Y; Qiu P; Zhu Y; Li J; Wu M; Zhang B; Yao K
    BMC Ophthalmol; 2015 Oct; 15():131. PubMed ID: 26464103
    [TBL] [Abstract][Full Text] [Related]  

  • 15. In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).
    Kobayashi A; Sugiyama K
    Ophthalmology; 2007 Jan; 114(1):69-75. PubMed ID: 17198850
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.
    Stewart HS; Ridgway AE; Dixon MJ; Bonshek R; Parveen R; Black G
    Hum Mutat; 1999; 14(2):126-32. PubMed ID: 10425035
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.