PubMed

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.

Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI.

Br J Ophthalmol. 2005 Aug;89(8):1065-6. No abstract available. PMID: 16024868 [PubMed - indexed for MEDLINE]Related articlesFree article

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP.

Arch Ophthalmol. 2003 Sep;121(9):1316-23.PMID: 12963616 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic features of patients with NR2E3 mutations.

Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA.

Arch Ophthalmol. 2009 Jan;127(1):71-5.PMID: 19139342 [PubMed - indexed for MEDLINE]Related articles

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.

Ophthalmology. 2005 Dec;112(12):2115. Epub 2005 Oct 12.PMID: 16225923 [PubMed - indexed for MEDLINE]Related articles

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.

Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF.

Hum Mol Genet. 2004 Sep 1;13(17):1893-902. Epub 2004 Jun 30.PMID: 15229190 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M.

Clin Genet. 2008 Apr;73(4):360-6. Epub 2008 Feb 20.PMID: 18294254 [PubMed - indexed for MEDLINE]Related articles

Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.

Lam BL, Goldberg JL, Hartley KL, Stone EM, Liu M.

Am J Ophthalmol. 2007 Jul;144(1):157-9.PMID: 17601449 [PubMed - indexed for MEDLINE]Related articles

Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements.

Chen J, Rattner A, Nathans J.

Hum Mol Genet. 2006 Jul 1;15(13):2146-56. Epub 2006 May 24.PMID: 16723373 [PubMed - indexed for MEDLINE]Related articlesFree article

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene.

Wang NK, Fine HF, Chang S, Chou CL, Cella W, Tosi J, Lin CS, Nagasaki T, Tsang SH.

Br J Ophthalmol. 2009 Sep;93(9):1234-40. Epub 2009 May 7.PMID: 19429590 [PubMed - indexed for MEDLINE]Related articlesFree article

The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation.

Haider NB, Demarco P, Nystuen AM, Huang X, Smith RS, McCall MA, Naggert JK, Nishina PM.

Vis Neurosci. 2006 Nov-Dec;23(6):917-29.PMID: 17266784 [PubMed - indexed for MEDLINE]Related articles

Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity.

Haider NB, Zhang W, Hurd R, Ikeda A, Nystuen AM, Naggert JK, Nishina PM.

Mamm Genome. 2008 Mar;19(3):145-54. Epub 2008 Feb 20.PMID: 18286335 [PubMed - indexed for MEDLINE]Related articles

Stickler syndrome: clinical care and molecular genetics.

Parke DW.

Am J Ophthalmol. 2002 Nov;134(5):746-8. No abstract available. PMID: 12429253 [PubMed - indexed for MEDLINE]Related articles

Exudative retinopathy in a girl with Alström syndrome due to a novel mutation.

Gogi D, Bond J, Long V, Sheridan E, Woods CG.

Br J Ophthalmol. 2007 Jul;91(7):983-4. No abstract available. PMID: 17576719 [PubMed - indexed for MEDLINE]Related articles

Helicoidal peripapillary degeneration.

Milenković S, Kosanović-Jaković N, Djurić S, Risimić D, Ivancević-Milenković M.

Eye (Lond). 2005 Aug;19(8):917-20. No abstract available. PMID: 15359244 [PubMed - indexed for MEDLINE]Related articles

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E.

Am J Hum Genet. 2007 Jul;81(1):147-57. Epub 2007 May 24.PMID: 17564971 [PubMed - indexed for MEDLINE]Related articlesFree article

Chromatin immunoprecipitation identifies photoreceptor transcription factor targets in mouse models of retinal degeneration: new findings and challenges.

Peng GH, Chen S.

Vis Neurosci. 2005 Sep-Oct;22(5):575-86.PMID: 16332268 [PubMed - indexed for MEDLINE]Related articles

Phenotypic variation in enhanced S-cone syndrome.

Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE.

Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93.PMID: 18436841 [PubMed - indexed for MEDLINE]Related articlesFree article

Inherited retinal dystrophy and asymmetric axial length.

Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S.

Br J Ophthalmol. 2003 Apr;87(4):503-4. No abstract available. PMID: 12642322 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular genetics of infantile-onset retinal dystrophies.

Moradi P, Moore AT.

Eye (Lond). 2007 Oct;21(10):1344-51. Review.PMID: 17914438 [PubMed - indexed for MEDLINE]Related articles

A phenotypic variant of Knobloch syndrome.

Williams TA, Kirkby GR, Williams D, Ainsworth JR.

Ophthalmic Genet. 2008 Jun;29(2):85-6.PMID: 18484314 [PubMed - indexed for MEDLINE]Related articles