S Bernal, T Solans, MJ Gamundi, I Hernan, L … - Clin Genet, 2008 - interscience.wiley.com The nuclear receptor protein NR2E3 is postulated to play an important role in
rod and cone photoreceptor development. NR2E3 gene mutational analyses were
carried out in 103 unrelated subjects with different retinal diseases. A ... Cited by 11 - Related articles - All 2 versions
P Escher, P Gouras, R Roduit, L Tiab, S Bolay … - Hum Mutat, 2009 - iro.vsnet.ch Pascal Escher,1,2 Peter Gouras,3 Raphaël Roduit,1,2 Leila Tiab,1,2 Sylvain
Bolay,1,2 Tania Delarive,1,2,4 Shiming Chen,5 Chih-Cheng Tsai,6 Masanori
Hayashi,3 Jana Zernant,3 Joanna E. Merriam,3 Nicolas Mermod,7 Rando ... Cited by 6 - Related articles - View as HTML - All 9 versions
- ►nih.gov NK Wang, HF Fine, S Chang, CL Chou, W Cella … - British Medical Journal, 2009 - bjo.bmj.com Results: Homozygous mutation in R311Q in NR2E3 was detected in this family.
Colour photographs revealed that white dots do not correlate to
hyperautofluorescent spots seen in autofluorescence imaging of the macula. ... Cited by 4 - Related articles - All 4 versions
DF Schorderet, P Escher, EPF de Lausanne, … - Hum Mutat. Find this article online, 2009 - interscience.wiley.com NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a
transcription factor of the nuclear hormone receptor superfamily which
expression is uniquely restricted to photoreceptors. There, its ... Cited by 2 - Related articles - All 2 versions
D Bandah, S Merin, M Ashhab, E Banin, D … - Archives of Ophthalmology, 2009 - Am Med Assoc Results We recruited 6 consanguineous Muslim families and 2 Jewish families with
enhanced S-cone syndrome. Patients from 4 of the Muslim families were homozygous
for the same NR2E3 mutation, c.119-2A>C, but showed considerable ... Cited by 2 - Related articles - All 4 versions
LP Orozco-Gómez, BCG Castellanos-Pérez, S … - Cir Ciruj, 2008 - circiruj.edilaser.net Study of vitreoretinal dystrophies in a Mexican population ... Luis Porfirio
Orozco-Gómez, Carmen Guadalupe Castellanos-Pérez Bolde, Silvia
Moguel-Ancheita, and Andrés Lambarri-Arroyo Related articles - View as HTML - All 3 versions
NK Wang, HF Fine, S Chang… - bjo.bmj.com NK Wang, HF Fine, S Chang, et al. ... References http://bjo.bmj.com/content/93/
9/1234.full.html#ref-list-1 This article cites 28 articles, 14 of which can be
accessed free at: ... Cellular origin of fundus autofluorescence in patients Related articles - All 2 versions
AO Edwards - Eye, 2008 - nature.com The inherited vitreoretinal degenerations or vitreoretinopathies are
characterized by congenital and acquired disorders of the eye including early
onset cataract, anomalies of the vitreous manifesting as optically empty ... Cited by 1 - Related articles - All 4 versions
SI Pachydaki, PA Bhatnagar, IA Barbazetto, … - Retinal Cases and Brief Reports, 2009 - journals.lww.com Results: The patient was misdiagnosed with atypical retinitis pigmentosa at 17
years of age. Twenty-seven years of follow-up showed slow deterioration but
relative preservation of vision. The most striking clinical feature was the ... Related articles - All 3 versions
