Similar articles for PMID: 16024868

Year	Number of Results
1976	1
1987	2
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2000	5
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2013	6
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2024	0

1

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. Chavala SH, et al. Br J Ophthalmol. 2005 Aug;89(8):1065-6. doi: 10.1136/bjo.2005.068130. Br J Ophthalmol. 2005. PMID: 16024868 Free PMC article. No abstract available.

2

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. Sharon D, et al. Arch Ophthalmol. 2003 Sep;121(9):1316-23. doi: 10.1001/archopht.121.9.1316. Arch Ophthalmol. 2003. PMID: 12963616

3

Phenotypic features of patients with NR2E3 mutations.

Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA. Pachydaki SI, et al. Arch Ophthalmol. 2009 Jan;127(1):71-5. doi: 10.1001/archophthalmol.2008.534. Arch Ophthalmol. 2009. PMID: 19139342

4

A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.

Manayath GJ, Namburi P, Periasamy S, Kale JA, Narendran V, Ganesh A. Manayath GJ, et al. Mol Vis. 2014 May 29;20:724-31. eCollection 2014. Mol Vis. 2014. PMID: 24891813 Free PMC article.

5

New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. Kuniyoshi K, et al. Jpn J Ophthalmol. 2016 Nov;60(6):476-485. doi: 10.1007/s10384-016-0470-0. Epub 2016 Aug 13. Jpn J Ophthalmol. 2016. PMID: 27522502

6

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).

Schorderet DF, Escher P. Schorderet DF, et al. Hum Mutat. 2009 Nov;30(11):1475-85. doi: 10.1002/humu.21096. Hum Mutat. 2009. PMID: 19718767 Review.

7

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. Hayashi T, et al. Ophthalmology. 2005 Dec;112(12):2115. doi: 10.1016/j.ophtha.2005.07.002. Epub 2005 Oct 12. Ophthalmology. 2005. PMID: 16225923

8

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston P, Downes SM. Al-Khuzaei S, et al. Genes (Basel). 2020 Oct 29;11(11):1288. doi: 10.3390/genes11111288. Genes (Basel). 2020. PMID: 33138239 Free PMC article.

9

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. Haider NB, et al. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777. Nat Genet. 2000. PMID: 10655056

10

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P. von Alpen D, et al. Hum Mutat. 2015 Jun;36(6):599-610. doi: 10.1002/humu.22775. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25703721 Free PMC article.

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