Search Results - "Cervantes, Aleck E."
-
1
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1
Published in PloS one (01-01-2017)“…To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1…”
Get full text
Journal Article -
2
Germline mutations and age at onset of lung adenocarcinoma
Published in Cancer (01-08-2021)“…Background To identify additional at‐risk groups for lung cancer screening, which targets persons with a long history of smoking and thereby misses younger or…”
Get full text
Journal Article -
3
Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function
Published in Molecular vision (14-10-2017)“…To investigate the functional role that the ( ) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal…”
Get full text
Journal Article -
4
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI
Published in Cornea (01-02-2017)“…PURPOSE:To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be…”
Get full text
Journal Article -
5
Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy
Published in Ophthalmic genetics (01-08-2018)“…To present the clinical and cytogenetic features of a previously unreported family with posterior amorphous corneal dystrophy (PACD) associated with a…”
Get full text
Journal Article -
6
Confirmation of the OVOL2 Promoter Mutation c.-307TC in Posterior Polymorphous Corneal Dystrophy 1
Published in PloS one (03-01-2017)“…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
Journal Article -
7
Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy
Published in Ophthalmic Genetics (04-07-2018)“…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
Report