VBD Kitiratschky, D Nagy, T Zabel, E Zrenner, … - British Medical Journal, 2008 - bjo.bmj.com Results: Clinical examination of six available mutation carriers showed marked
phenotypic heterogeneity, presenting with a reduced cone electroretinogram (ERG)
and normal rod ERG in one family branch and a negative ERG in the other as ... Cited by 2 - Related articles - All 3 versions
T Itabashi, Y Wada, H Sato, M Kawamura, T … - American journal of ophthalmology, 2004 - Elsevier To characterize the clinical features of a Japanese family with cone-rod
dystrophy associated with a novel 615delC mutation in the cone-rod homeobox
(CRX) gene. ... Case reports and results of DNA analysis. Cited by 5 - Related articles - All 11 versions
- ►iovs.org S Walia, GA Fishman - Investigative Ophthalmology & Visual Science, 2008 - ARVO METHODS. Ninety-seven eyes of 52 patients with diagnoses of retinitis pigmentosa
or Usher syndrome type II underwent complete ocular examination. Peripapillary
RNFL thickness was measured using Fd-OCT in 16 segments from 4 quadrants— ... Cited by 5 - Related articles - All 3 versions
LS Evans, NS Peachey, AL Marchese - Documenta Ophthalmologica, 1993 - Springer LAWRENCE S. EVANS 1, NEAL S. PEACHEY 2'3 & ANTHONY L. MARCHESE I Departments of
~Ophthalmology and 2Neurology, Loyola University Chicago, Stritch School of
Medicine, Maywood, Ill. ; 3Veterans Administration Hospital, Hines, Ill., USA Cited by 9 - Related articles - BL Direct - All 3 versions
S Pasadhika, GA Fishman, R Allikmets, EM … - American Journal of Ophthalmology, 2009 - Elsevier Eleven patients (22 eyes) with CRD were studied, including 4 patients with
identified ABCA4 gene mutations. Peripapillary RNFL thickness was measured in 16
segments from 4 quadrants. The analyses were based on age and disc ... Cited by 1 - Related articles - All 24 versions
MA Genead, S Pasadhika, GA Fishman - Eye, 2009 - nature.com The average age of the 24 patients in the study was 28.8 14.7 years. Thinning of
the RNFL in one quadrant was seen in 10 patients (41.7%), and thinning in two or
more quadrants was seen in 8 patients (33.3%). Thinning in the inferior ... Cited by 1 - Related articles - All 2 versions
MA Lines, M Hébert, KE McTaggart, SJ Flynn … - Ophthalmology, 2002 - Elsevier Preliminary findings of this study were previously presented at the Macula
Society, Phoenix, Arizona, March 2001, and at the International Society for
Clinical Electrophysiology in Vision, Magog, Quebec, June 2001. Cited by 10 - Related articles - All 13 versions
K Paunescu, MN Preising, B Janke, B … - Ophthalmology, 2007 - Elsevier Presented in part at: European Paediatric Ophthalmological Society 30th Annual
Meeting, October 2004, Manchester, United Kingdom, and Association for Research
in Vision and Ophthalmology annual meeting, May 2005, Ft. Lauderdale, Florida. Cited by 4 - Related articles - All 16 versions
C Rivolta, NE Peck, AB Fulton, GA Fishman, … - Human Mutation, 2001 - interscience.wiley.com Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber
congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa
(RP), all of which feature severe visual impairment. Upon screening 55 ... Cited by 15 - Related articles - BL Direct - All 2 versions
MD Hodges, K Gregory-Evans, CY Gregory- … - New Insights Into Retinal Degenerative Diseases, 2001 - books.google.com CHARACTERISATION OF THE QTCGENE; IDENTIFICATION OF ALTERNATIVELY SPLICED 5'EXONS
AND 3'SEQUENCE Matthew D. Hodges, Kevin Gregory-Evans and Cheryl Y.
Gregory-Evans* 1. INTRODUCTION The cone-rod homeobox gene (CRX) is a ... Related articles