TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine
Ophthalmologica, 2004 In our study, 5 previously reported mutations of the TGFBI gene – R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) – were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. The R555W mutation was detected
Pampukha, VM, Drozhyna, GI, Livshits, LA
openaire +3 more sources
Corneal transplantation in young children with congenital hereditary endothelial dystrophy
Arquivos Brasileiros de Oftalmologia, 1999 Abstract Purpose: To describe the surgical success rate and visual results of penetrating keratoplasty in a series of young children with congenital hereditary endothelial dystrophy and to summarize the current literature on outcomes of keratoplasty for congenital hereditary endothelial dystrophy, with particular attention to the timing of surgery ...
Debra A. Schaumberg +3 more
openaire +1 more source
Health Technology Assessment zur medizinischen Wirksamkeit und Kosten-Effektivität der Phototherapeutischen Keratektomiemit dem Excimerlaser bei rezidivierenden Erosionen, Hornhautdystrophien, Hornhautdegenerationen und oberflächlichen Hornhautnarben [PDF]
, 2005 Hintergrund und Fragestellung: Die phototherapeutische Keratektomie mit dem Excimer-Laser (PTK) wird bei rezidivierenden Hornhauterosionen, oberflächlichen Hornhautdystrophien, zentralen Hornhautdegenerationen, oberflächlichen Hornhautnarben und ...
Hessel, Franz +3 more
core
Translational Retinal Research and Therapies. [PDF]
, 2018 The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D +7 more
core +1 more source
Most, if not all, diseases have an underlying genetic contribution, therefore all clinicians, as health care providers, must have a basic understanding of genetics and competency to care and educate patients on their diseases, especially diseases with
Champion, Bobby +5 more
core +1 more source
Avellino corneal dystrophy: corneal stars [PDF]
Revista Brasileira de OftalmologiaLaaribi Nisrine +2 more
doaj +1 more source
Corneal dystrophies and degenerations in dogs [PDF]
, 2006 The aim of the paper is the presentation of a not very well known group of corneal diseases in dogs: dystrophies and degenerations. The course of these diseases involves changes in the metabolism of corneal cells, which leads to the loss of ...
Madany, Jacek
core +1 more source
Health Technology Assessment zur medizinischen Wirksamkeit und Kosten-Effektivität der Phototherapeutischen Keratektomiemit dem Excimerlaser bei rezidivierenden Erosionen, Hornhautdystrophien, Hornhautdegenerationen und oberflächlichen Hornhautnarben [PDF]
Hintergrund und Fragestellung: Die phototherapeutische Keratektomie mit dem Excimer-Laser (PTK) wird bei rezidivierenden Hornhauterosionen, oberflächlichen Hornhautdystrophien, zentralen Hornhautdegenerationen, oberflächlichen Hornhautnarben und ...
Hessel, Franz +3 more
core