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Scholar Results 1 - 10 of about 101 related to Kitiratschky: Cone and cone-rod dystrophy segregating in the same pedigree due to the same.... (0.10 sec) 

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX …


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

Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy


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

Retinal nerve fiber layer analysis in RP patients using Fourier-domain OCT

- 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

Comparison of three methods of estimating the parameters of the Naka-Rushton equation


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

Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Autosomal Recessive …


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

Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain …


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

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by …


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

Genotype–Phenotype Correlation in a German Family with a Novel Complex CRX Mutation …


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

Novel frameshift mutations in CRX associated with Leber congenital amaurosis


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

CHARACTERISATION OF THE QTCGENE; IDENTIFICATION OF ALTERNATIVELY …


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 ...
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