199 related articles for article (PubMed ID: 19710953)
1. Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.
Vincent AL; Markie DM; De Karolyi B; Wheeldon CE; Patel DV; Grupcheva CN; McGhee CN
Mol Vis; 2009 Aug; 15():1700-8. PubMed ID: 19710953
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
Vincent AL; de Karolyi B; Patel DV; Wheeldon CE; McGhee CN
Br J Ophthalmol; 2010 Jul; 94(7):836-42. PubMed ID: 19948560
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
Vincent AL; Niederer RL; Richards A; Karolyi B; Patel DV; McGhee CN
Mol Vis; 2009 Dec; 15():2544-53. PubMed ID: 19997581
[TBL] [Abstract][Full Text] [Related]
6. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
Correa-Gomez V; Villalvazo-Cordero L; Zenteno JC
Mol Vis; 2007 Sep; 13():1695-700. PubMed ID: 17893671
[TBL] [Abstract][Full Text] [Related]
7. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.
Bredrup C; Knappskog PM; Majewski J; Rødahl E; Boman H
Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):420-6. PubMed ID: 15671264
[TBL] [Abstract][Full Text] [Related]
8. Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.
Lisch W; Büttner A; Oeffner F; Böddeker I; Engel H; Lisch C; Ziegler A; Grzeschik K
Am J Ophthalmol; 2000 Oct; 130(4):461-8. PubMed ID: 11024418
[TBL] [Abstract][Full Text] [Related]
9. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20.
Yellore VS; Papp JC; Sobel E; Khan MA; Rayner SA; Farber DB; Aldave AJ
Genet Med; 2007 Apr; 9(4):228-34. PubMed ID: 17438387
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
Aldave AJ; Gutmark JG; Yellore VS; Affeldt JA; Meallet MA; Udar N; Rao NA; Small KW; Klintworth GK
Am J Ophthalmol; 2004 Nov; 138(5):772-81. PubMed ID: 15531312
[TBL] [Abstract][Full Text] [Related]
12. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24.
Yee RW; Sullivan LS; Lai HT; Stock EL; Lu Y; Khan MN; Blanton SH; Daiger SP
Genomics; 1997 Nov; 46(1):152-4. PubMed ID: 9403072
[TBL] [Abstract][Full Text] [Related]
13. Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
Aldave AJ; Sonmez B; Bourla N; Schultz G; Papp JC; Salem AK; Rayner SA; Yellore VS
Ophthalmic Genet; 2007 Jun; 28(2):57-67. PubMed ID: 17558846
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
Gwilliam R; Liskova P; Filipec M; Kmoch S; Jirsova K; Huckle EJ; Stables CL; Bhattacharya SS; Hardcastle AJ; Deloukas P; Ebenezer ND
Invest Ophthalmol Vis Sci; 2005 Dec; 46(12):4480-4. PubMed ID: 16303937
[TBL] [Abstract][Full Text] [Related]
16. Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.
Hammar B; Björck E; Lind H; Lagerstedt K; Dellby A; Fagerholm P
Acta Ophthalmol; 2009 Sep; 87(6):659-65. PubMed ID: 18700883
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.
Hammar B; Björck E; Lagerstedt K; Dellby A; Fagerholm P
Acta Ophthalmol; 2008 Nov; 86(7):758-63. PubMed ID: 18778339
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
Paliwal P; Gupta J; Tandon R; Kashyap S; Sen S; Agarwal A; Bakshi R; Sharma A
Ophthalmic Res; 2011; 46(3):164-7. PubMed ID: 21447988
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
