Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Vivek S. Yellore"'
Autor:
Nirit Bourla, Ira Kurtz, Rominder Momi, Vivek S. Yellore, Andrew K. Salem, Ben J. Glasgow, Anthony J. Aldave, Khan Ma, Sylvia A. Rayner
Publikováno v:
Cornea. 26:896-900
To determine the genetic basis of autosomal recessive congenital hereditary endothelial dystrophy (CHED2) in an American patient of Chinese ancestry.Slit-lamp examination of the proband and his parents, as well as histopathologic examination of excis
Autor:
Vivek S. Yellore, S. Lance Forstot, Anthony J. Aldave, Sylvia A. Rayner, Ben J. Glasgow, Baris Sonmez
Publikováno v:
American Journal of Ophthalmology. 143:416-419
Purpose To report the clinical and histopathologic features of accelerated TGFBI protein (TGFBIp) deposition after lamellar keratorefractive surgery in a patient with combined granular-lattice corneal dystrophy (CGLCD) who underwent bilateral corneal
Autor:
Anthony J. Aldave, Sylvia A. Rayner, Eugene J.-M.A. Thonar, Baris Sonmez, Vivek S. Yellore, Michael C. Chen
Publikováno v:
Ophthalmic Genetics. 28:169-174
To report an unusual phenotype of macular corneal dystrophy (MCDC1) associated with a novel CHST6 mutation transmitted via maternal isodisomy.Slit lamp examination of the patient and his parents was performed. DNA was collected from each individual f
Autor:
Jeanette C. Papp, Vivek S. Yellore, Anthony J. Aldave, Gerald Schultz, Nirit Bourla, Andrew K. Salem, Baris Sonmez, Sylvia A. Rayner
Publikováno v:
Ophthalmic Genetics. 28:57-67
To determine the genetic basis of autosomal dominant cornea plana (CNA1) through the performance of a genome-wide linkage analysis and screening of the decorin (DCN), dermatan sulfate proteoglycan 3 (DSPG3), forkhead box C1 (FOXC1), keratocan (KERA),
Publikováno v:
Cornea. 24:112-115
Purpose: To report a case of stellate and branching linear corneal stromal amyloid deposits secondary to trichiasis and the use of molecular genetic analysis to exclude lattice corneal dystrophy. Methods: Case report and review of the literature. A 3
Publikováno v:
Cornea. 22:754-759
Purpose: To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor β-induced gene (TGFB1) associated with granular corneal dystrophy. Methods: DNA from affecte
The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies
Publikováno v:
Ophthalmology. 111:1407-1409
Purpose To make ophthalmologists aware of the usefulness of buccal swabs for the collection of cells from which DNA may be extracted to be used in genetic screening of patients with known or suspected inherited ocular disorders, such as corneal dystr
Autor:
Ralph C. Eagle, Irving M. Raber, Christopher Wiaux, Anthony J. Aldave, Mike Mequio, Jayne S. Weiss, Vivek S. Yellore
Publikováno v:
Cornea. 29(7)
PURPOSE To determine whether central discoid corneal dystrophy (CDCD), previously reported as a novel corneal dystrophy, is actually Schnyder corneal dystrophy (SCD) through screening of the UBIAD1 gene in the members of the family in which CDCD was
Autor:
Vivek S. Yellore, Eric M. Sobel, Michele N. Pham, Mausam R Damani, Khairidzan M. Kamal, Sylvia A. Rayner, Michael B. Gorin, Michael C. Chen, Rosalind C. Vo, Anthony J. Aldave, Jeanette C. Papp, Christopher L. Plaisier
Publikováno v:
Cornea. 28(7)
Purpose Posterior polymorphous corneal dystrophy (PPCD) is an autosomal-dominant disorder of the corneal endothelium associated with visually significant corneal edema and glaucoma. Statistical genetic analysis of 4 families with PPCD has demonstrate
Autor:
Sylvia A. Rayner, Anthony J. Aldave, Vivek S. Yellore, M. Ali Khan, Baris Sonmez, Andrew K. Salem, Nirit Bourla, Ben J. Glasgow
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 126(3)
Objective To report a novel mutation in TGFBI (GenBankNM_000358), p.Met619Lys, associated with a variant of combined granular-lattice corneal dystrophy. Methods Slitlamp examination and DNA collection from the proband and affected and unaffected rela