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 *

97 related articles for article (PubMed ID: 29708937)

  • 1. Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family.
    Vahedi F; Chung DD; Gee KM; Chuephanich P; Aldave AJ
    Cornea; 2018 Jul; 37(7):909-911. PubMed ID: 29708937
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
    Oliver VF; van Bysterveldt KA; Cadzow M; Steger B; Romano V; Markie D; Hewitt AW; Mackey DA; Willoughby CE; Sherwin T; Crosier PS; McGhee CN; Vincent AL
    Ophthalmology; 2016 Apr; 123(4):709-22. PubMed ID: 26786512
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
    Jonsson F; Byström B; Davidson AE; Backman LJ; Kellgren TG; Tuft SJ; Koskela T; Rydén P; Sandgren O; Danielson P; Hardcastle AJ; Golovleva I
    Hum Mutat; 2015 Apr; 36(4):463-73. PubMed ID: 25676728
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.
    Lin BR; Le DJ; Chen Y; Wang Q; Chung DD; Frausto RF; Croasdale C; Yee RW; Hejtmancik FJ; Aldave AJ
    PLoS One; 2016; 11(6):e0157418. PubMed ID: 27309958
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of A Novel
    Chen AC; Niruthisard D; Chung DD; Chuephanich P; Aldave AJ
    Ophthalmic Genet; 2020 Dec; 41(6):639-644. PubMed ID: 32880217
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
    Turunen JA; Tuisku IS; Repo P; Mörtenhumer S; Kawan S; Järvinen RS; Korsbäck A; Immonen AT; Kivelä TT
    Acta Ophthalmol; 2024 May; 102(3):296-305. PubMed ID: 37289141
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genes in dizygote twins with Bowman layer corneal dystrophy.
    Hou YC; Hu FR; Wang IJ
    Optom Vis Sci; 2015 Apr; 92(4 Suppl 1):S20-4. PubMed ID: 25785536
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25.
    Sullivan LS; Zhao X; Bowne SJ; Xu X; Daiger SP; Yee SB; Yee RW
    Curr Eye Res; 2003 Oct; 27(4):223-6. PubMed ID: 14562173
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic update of corneal dystrophies.
    Lisch W; Weiss JS
    Exp Eye Res; 2019 Sep; 186():107715. PubMed ID: 31301286
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.
    Aldave AJ; Rayner SA; King JA; Affeldt JA; Yellore VS
    Ophthalmology; 2005 Jun; 112(6):1017-22. PubMed ID: 15885785
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Heterozygous
    Hany U; Watson CM; Liu L; Smith CEL; Harfoush A; Poulter JA; Nikolopoulos G; Balmer R; Brown CJ; Patel A; Simmonds J; Charlton R; Acosta de Camargo MG; Rodd HD; Jafri H; Antanaviciute A; Moffat M; Al-Jawad M; Inglehearn CF; Mighell AJ
    J Med Genet; 2024 Mar; 61(4):347-355. PubMed ID: 37979963
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.
    Atchaneeyasakul LO; Appukuttan B; Pingsuthiwong S; Yenchitsomanus PT; Trinavarat A; Srisawat C;
    Jpn J Ophthalmol; 2006; 50(5):403-408. PubMed ID: 17013691
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
    Auw-Haedrich C; Agostini H; Clausen I; Reinhard T; Eberwein P; Schorderet DF; Gruenauer-Kloevekorn C
    Ophthalmology; 2009 Jan; 116(1):46-51. PubMed ID: 19019446
    [TBL] [Abstract][Full Text] [Related]  

  • 16. In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.
    Nishino T; Kobayashi A; Mori N; Masaki T; Yokogawa H; Fujiki K; Yanagawa A; Murakami A; Sugiyama K
    Jpn J Ophthalmol; 2019 Jan; 63(1):46-55. PubMed ID: 30535821
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
    Kattan JM; Serna-Ojeda JC; Sharma A; Kim EK; Ramirez-Miranda A; Cruz-Aguilar M; Cervantes AE; Frausto RF; Zenteno JC; Graue-Hernandez EO; Aldave AJ
    Cornea; 2017 Feb; 36(2):210-216. PubMed ID: 28060069
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene.
    Eifrig DE; Afshari NA; Buchanan HW; Bowling BL; Klintworth GK
    Ophthalmology; 2004 Jun; 111(6):1108-14. PubMed ID: 15177960
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.
    Klintworth GK; Bao W; Afshari NA
    Invest Ophthalmol Vis Sci; 2004 May; 45(5):1382-8. PubMed ID: 15111592
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
    Piao MZ; Zhou XT; Wu LC; Chu RY
    J Int Med Res; 2012; 40(3):1149-55. PubMed ID: 22906289
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.