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Scholar Results 1 - 10 of about 13 citing Michaelides: A detailed phenotypic study of “cone dystrophy with supernormal rod ERG”. (0.09 sec) 

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic …


M Michaelides, AJ Hardcastle, DM Hunt, AT … - Survey of ophthalmology, 2006 - Elsevier
The cone and cone–rod dystrophies form part of a heterogeneous group of
retinal disorders that are an important cause of visual impairment in children
and adults. There have been considerable advances made in recent years in ...
Cited by 21 - Related articles - All 15 versions

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause “ …

- nih.gov
H Wu, JA Cowing, M Michaelides, SE Wilkie, … - The American Journal of Human Genetics, 2006 - Elsevier
“Cone dystrophy with supernormal rod electroretinogram (ERG)” is an
autosomal recessive disorder that causes lifelong visual loss combined with a
supernormal ERG response to a bright flash of light. We have linked the ...
Cited by 15 - Related articles - BL Direct - All 7 versions

Functional characteristics of patients with retinal dystrophy that manifest abnormal …

- nih.gov
AG Robson, M Michaelides, Z Saihan, AC Bird … - Documenta Ophthalmologica, 2008 - Springer
Abstract Purpose To examine the presence and functional significance of annular
fundus autofluores- cence abnormalities in patients with different retinal
dystrophies. Methods Eighty one patients were ascer- tained who had a ...
Cited by 10 - Related articles - BL Direct - All 6 versions

Cone dystrophy with supernormal rod response is strictly associated with mutations in …

- iovs.org
B Wissinger, S Dangel, H Jagle, L Hansen, B … - Investigative Ophthalmology & Visual Science, 2008 - ARVO
1 From the Molecular Genetics Laboratory, Institute for Ophthalmic Research,
Centre for Ophthalmology, University Clinics Tübingen, Germany; the 2
University Eye Hospital, Centre for Ophthalmology, University Clinics ...
Cited by 5 - Related articles - BL Direct - All 2 versions

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod …


S Thiagalingam, TL McGee, RG Weleber, MA … - Ophthalmic Genetics, 2007 - informahealthcare.com
Purpose: To identify mutations in KCNV2 in patients with a form of cone
dystrophy characterized by a supernormal rod electroretinogram (ERG). Methods:
The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were ...
Cited by 3 - Related articles - BL Direct - All 5 versions

[PDF] Explorations électrophysiologiques sensorielles: électrorétinogramme, électro-oculogramme, …


F Rigaudière, JF Le Gargasson - microscopy, 1966 - seveactu.googlepages.com
Les examens électrophysiologiques visuels explorent un aspect du fonctionnement
du système visuel initié par les réponses des photorécepteurs à la
lumière. Ces réponses déclenchent des signaux simultanément vers l' ...
Cited by 2 - Related articles - View as HTML - All 2 versions

Discrete arcs of increased fundus autofluorescence in retinal dystrophies and functional …


M Fleckenstein, PC Issa, HA Fuchs, RP … - Eye, 2008 - nature.com
A discrete arched line of increased FAF was observed without obvious correlate
on fundus biomicroscopy. The orientation of this line differed from ring shape
in RP and macular dystrophy, a semi-circle structure in sector RP to ...
Cited by 1 - Related articles - All 3 versions

Hyper-response of OP3 to systemic hyperoxia in the dark-adapted retina


C Faucher, G Carcenac, H Kergoat - Ophthalmic and Physiological Optics, 2009 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ...
Related articles - All 3 versions

[PDF] Safouane Ben Salah, Satomi amei, Audrey Sgngchali, Sgverine lopeo, Christian Baoalgette, …


CP Hamel, U INSER, H pital Saint-Eloi, C ue … - Am J Ophtalmology, 2008 - hal.inserm.fr
Safouane Ben Salah , Satomi amei , Audrey Sgngchali , Sgverine lopeo , Christian
Baoalgette , Cgcile Baoalgette , Claudie walrieu Eliaou , avier anlonghi ,
Christian P Hamel i ... Corresponding author and to whom reprints should ...
Related articles - View as HTML

Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause …


H Wu, JA Cowing, M Michaelides, SE Wilkie, … - American Journal of Human Genetics, 2006 - ukpmc.ac.uk
“Cone dystrophy with supernormal rod electroretinogram (ERG)” is an
autosomal recessive disorder that causes lifelong visual loss combined with a
supernormal ERG response to a bright flash of light. We have linked the ...
Related articles


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