Search Results - "Gee, Katherine M."

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1 by Chung, Doug D, Frausto, Ricardo F, Cervantes, Aleck E, Gee, Katherine M, Zakharevich, Marina, Hanser, Evelyn M, Stone, Edwin M, Heon, Elise, Aldave, Anthony J

“…To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1…”
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Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family by Vahedi, Farnoosh, Chung, Doug D, Gee, Katherine M, Chuephanich, Pichaya, Aldave, Anthony J

“…PURPOSE:To report the identification of the collagen, type XVII, alpha 1 (COL17A1) c.3156C>T mutation associated with epithelial recurrent erosion dystrophy…”
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Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy by Cervantes, Aleck E, Gee, Katherine M, Whiting, Martha F, Frausto, Ricardo F, Aldave, Anthony J

“…To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a…”
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Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy by Chen, Judy L, Lin, Benjamin R, Gee, Katherine M, Gee, Jessica A, Chung, Duk-Won D, Frausto, Ricardo F, Deng, Sophie X, Aldave, Anthony J

“…To report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal…”
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Epithelial Recurrent Erosion Dystrophy Secondary to the COL17A1 c.3156C>T Mutation in a Non-Caucasian Family by Vahedi, Farnoosh, Chung, Doug D., Gee, Katherine M., Chuephanich, Pichaya, Aldave, Anthony J.

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Confirmation of the OVOL2 Promoter Mutation c.-307TC in Posterior Polymorphous Corneal Dystrophy 1 by Chung, Doug D, Frausto, Ricardo F, Cervantes, Aleck E, Gee, Katherine M, Zakharevich, Marina, Hanser, Evelyn M, Stone, Edwin M, Heon, Elise, Aldave, Anthony J

“…Purpose To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals…”
Get full text

Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy by Cervantes, Aleck E., Gee, Katherine M., Whiting, Martha F., Frausto, Ricardo F., Aldave, Anthony J.

“…Purpose: To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a…”
Get full text