Frausto RF - Search Results

1

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ. Chung DD, et al. Among authors: frausto rf. PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. eCollection 2017. PLoS One. 2017. PMID: 28046031 Free PMC article.

2

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ, Han J, Frausto RF. Aldave AJ, et al. Among authors: frausto rf. Clin Genet. 2013 Aug;84(2):109-19. doi: 10.1111/cge.12191. Epub 2013 Jun 10. Clin Genet. 2013. PMID: 23662738 Free PMC article. Review.

3

Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.

Bakhtiari P, Frausto RF, Roldan AN, Wang C, Yu F, Aldave AJ. Bakhtiari P, et al. Among authors: frausto rf. Mol Vis. 2013;19:575-80. Epub 2013 Mar 15. Mol Vis. 2013. PMID: 23559851 Free PMC article.

4

Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.

Hung C, Ayabe RI, Wang C, Frausto RF, Aldave AJ. Hung C, et al. Among authors: frausto rf. Cornea. 2013 Sep;32(9):1283-7. doi: 10.1097/ICO.0b013e318298e176. Cornea. 2013. PMID: 23807007 Free PMC article.

5

Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.

Aldave AJ, Ann LB, Frausto RF, Nguyen CK, Yu F, Raber IM. Aldave AJ, et al. Among authors: frausto rf. JAMA Ophthalmol. 2013 Dec;131(12):1583-90. doi: 10.1001/jamaophthalmol.2013.5036. JAMA Ophthalmol. 2013. PMID: 24113819 Free PMC article.

6

Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.

Kim MJ, Frausto RF, Rosenwasser GO, Bui T, Le DJ, Stone EM, Aldave AJ. Kim MJ, et al. Among authors: frausto rf. PLoS One. 2014 Apr 23;9(4):e95037. doi: 10.1371/journal.pone.0095037. eCollection 2014. PLoS One. 2014. PMID: 24759697 Free PMC article.

7

Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.

Jang MS, Roldan AN, Frausto RF, Aldave AJ. Jang MS, et al. Among authors: frausto rf. Vision Res. 2014 Jul;100:88-92. doi: 10.1016/j.visres.2014.04.007. Epub 2014 Apr 26. Vision Res. 2014. PMID: 24780443 Free PMC article.

8

Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.

Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ. Chung DW, et al. Among authors: frausto rf. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. Invest Ophthalmol Vis Sci. 2014. PMID: 25190660 Free PMC article.

9

Transcriptome analysis of the human corneal endothelium.

Frausto RF, Wang C, Aldave AJ. Frausto RF, et al. Invest Ophthalmol Vis Sci. 2014 Nov 6;55(12):7821-30. doi: 10.1167/iovs.14-15021. Invest Ophthalmol Vis Sci. 2014. PMID: 25377225 Free PMC article.

10

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. Lin BR, et al. Among authors: frausto rf. PLoS One. 2016 Jun 16;11(6):e0157418. doi: 10.1371/journal.pone.0157418. eCollection 2016. PLoS One. 2016. PMID: 27309958 Free PMC article.

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