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Items: 1 to 20 of 119

1.

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. doi: 10.1111/j.1399-0004.2008.00963.x. Epub 2008 Feb 20.

PMID:
18294254
2.

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC.

Nat Genet. 2000 Feb;24(2):127-31.

PMID:
10655056
3.

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
4.

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.

5.

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A.

Hum Mutat. 2004 Nov;24(5):439.

PMID:
15459973
6.

Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.

Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2229-35. doi: 10.1167/iovs.09-4299. Epub 2009 Nov 20.

PMID:
19933183
7.

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K.

Acta Ophthalmol Scand. 2004 Oct;82(5):616-22.

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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
12.

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
13.

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1971-9.

PMID:
12037007
14.

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. doi: 10.1167/iovs.05-1629.

PMID:
18436841
15.

Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

Udar N, Small K, Chalukya M, Silva-Garcia R, Marmor M.

Mol Vis. 2011 Feb 17;17:519-25.

16.

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nürnberg P, Ruether K, Berger W.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3523-30.

PMID:
16877424
17.

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse.

Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, Danciger M, Davisson MT, Farber DB.

Proc Natl Acad Sci U S A. 2000 May 9;97(10):5551-6.

18.

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. doi: 10.1001/archophthalmol.2008.534.

PMID:
19139342
19.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.

20.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF.

Hum Mutat. 2009 Mar;30(3):342-51. doi: 10.1002/humu.20858.

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