PubMed for id: 10002

Year	Number of Results
1993	1
1996	1
1999	2
2000	4
2001	1
2002	2
2003	1
2004	3
2005	4
2006	1
2007	2
2008	2
2009	7
2010	5
2011	6
2012	5
2013	5
2014	4
2015	3
2016	3
2017	4
2018	4
2019	2
2020	3
2021	1
2023	3
2024	0

1

Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.

Xiao S, Yi Z, Xiao X, Li S, Jia X, Lian P, Sun W, Wang P, Lu L, Zhang Q. Xiao S, et al. Genes (Basel). 2023 Jul 26;14(8):1525. doi: 10.3390/genes14081525. Genes (Basel). 2023. PMID: 37628579 Free PMC article.

2

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.

3

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.

Naessens S, Ruysschaert L, Lefever S, Coppieters F, De Baere E. Naessens S, et al. Genes (Basel). 2019 May 10;10(5):363. doi: 10.3390/genes10050363. Genes (Basel). 2019. PMID: 31083481 Free PMC article.

4

Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.

Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S. Murro V, et al. Graefes Arch Clin Exp Ophthalmol. 2019 Jan;257(1):9-22. doi: 10.1007/s00417-018-4161-z. Epub 2018 Oct 15. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 30324420

5

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.

Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG. Garafalo AV, et al. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3209-3219. doi: 10.1167/iovs.18-24518. Invest Ophthalmol Vis Sci. 2018. PMID: 29971438

6

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.

Mahajan D, Votruba M. Mahajan D, et al. Acta Ophthalmol. 2018 Jun;96(4):e535-e536. doi: 10.1111/aos.13629. Epub 2017 Nov 29. Acta Ophthalmol. 2018. PMID: 29193891 Free article. No abstract available.

7

Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.

Terray A, Slembrouck A, Nanteau C, Chondroyer C, Zeitz C, Sahel JA, Audo I, Reichman S, Goureau O. Terray A, et al. Stem Cell Res. 2017 Oct;24:1-4. doi: 10.1016/j.scr.2017.08.003. Epub 2017 Aug 5. Stem Cell Res. 2017. PMID: 29034877 Free article.

8

Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations.

Fulton J, Mazumder B, Whitchurch JB, Monteiro CJ, Collins HM, Chan CM, Clemente MP, Hernandez-Quiles M, Stewart EA, Amoaku WM, Moran PM, Mongan NP, Persson JL, Ali S, Heery DM. Fulton J, et al. Cell Death Dis. 2017 Mar 16;8(3):e2677. doi: 10.1038/cddis.2017.98. Cell Death Dis. 2017. PMID: 28300834 Free PMC article.

9

A new mutation in enhanced S-cone syndrome.

Termühlen J, Alex AF, Glöckle N, Kellner U, Fiedler B, Eter N, Uhlig CE. Termühlen J, et al. Acta Ophthalmol. 2018 Jun;96(4):e539-e540. doi: 10.1111/aos.13205. Epub 2016 Aug 29. Acta Ophthalmol. 2018. PMID: 27573156 Free article. No abstract available.

10

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

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