149 related articles for article (PubMed ID: 32880217)
1. 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]
2. New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.
Qiu WY; Zheng LB; Pan F; Wang BB; Yao YF
BMC Ophthalmol; 2016 Sep; 16(1):158. PubMed ID: 27590038
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.
Nowińska AK; Wylegala E; Janiszewska DA; Dobrowolski D; Aragona P; Roszkowska AM; Puzzolo D
Mol Vis; 2011; 17():2333-42. PubMed ID: 21921985
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
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. 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]
10. 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]
11. Individual phenotypic variances in a family with Avellino corneal dystrophy.
Abazi Z; Magarasevic L; Grubisa I; Risovic D
BMC Ophthalmol; 2013 Jul; 13():30. PubMed ID: 23837658
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Campos-Mollo E; Varela-Conde Y; Arriola-Villalobos P; Cabrera-Beyrouti R; Benítez-Del-Castillo JM; Maldonado MJ; Escribano J
Clin Exp Ophthalmol; 2019 Sep; 47(7):871-880. PubMed ID: 31056827
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene.
Ołdak M; Szaflik JP; Ścieżyńska A; Udziela M; Maksym RB; Rymgayłło-Jankowska B; Hofmann-Rummelt C; Menzel-Severing J; Płoski R; Żarnowski T; Kruse FE; Szaflik J
Cornea; 2014 Mar; 33(3):294-9. PubMed ID: 24473223
[TBL] [Abstract][Full Text] [Related]
17. A novel missense
Jaakkola AM; Järventausta PJ; Järvinen RS; Repo P; Kivelä TT; Turunen JA
Eur J Ophthalmol; 2022 Jul; 32(4):NP61-NP66. PubMed ID: 33645289
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.
Lakshminarayanan R; Vithana EN; Chai SM; Chaurasia SS; Saraswathi P; Venkatraman A; Rojare C; Venkataraman D; Tan D; Aung T; Beuerman RW; Mehta JS
Br J Ophthalmol; 2011 Oct; 95(10):1457-62. PubMed ID: 21835759
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
