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1
Expanded clinical spectrum of enhanced S-cone syndrome.
JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349.
2
Clinical and molecular characterization of enhanced S-cone syndrome in children.
JAMA Ophthalmol. 2014 Nov;132(11):1341-9. doi: 10.1001/jamaophthalmol.2014.2343.
3
Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
Graefes Arch Clin Exp Ophthalmol. 2013 Oct;251(10):2299-309. doi: 10.1007/s00417-013-2296-5. Epub 2013 Apr 19.
4
New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
Jpn J Ophthalmol. 2016 Nov;60(6):476-485. doi: 10.1007/s10384-016-0470-0. Epub 2016 Aug 13.
6
Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Indian J Ophthalmol. 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18.
8
A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
Graefes Arch Clin Exp Ophthalmol. 2011 Feb;249(2):201-8. doi: 10.1007/s00417-010-1482-y. Epub 2010 Aug 20.

引用本文的文献

1
Retinal Imaging Findings in Inherited Retinal Diseases.
J Clin Med. 2024 Apr 3;13(7):2079. doi: 10.3390/jcm13072079.
2
Determining Photoreceptor Cell Identity: Rod Versus Cone Fate Governed by tbx2b Opposing nrl.
Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):39. doi: 10.1167/iovs.65.1.39.
3
Long-term follow-up of torpedo maculopathy: a case series and mini-review.
BMC Ophthalmol. 2024 Jan 3;24(1):5. doi: 10.1186/s12886-023-03254-z.
4
The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.
Diagnostics (Basel). 2023 Sep 25;13(19):3041. doi: 10.3390/diagnostics13193041.
5
Suspected Enhanced S-Cone Syndrome: A Case Report.
Cureus. 2023 Aug 17;15(8):e43660. doi: 10.7759/cureus.43660. eCollection 2023 Aug.
6
Enhanced S-Cone Syndrome: Elevated Cone Counts Confer Supernormal Visual Acuity in the S-Cone Pathway.
Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):17. doi: 10.1167/iovs.64.10.17.
7
Enhanced S-cone Syndrome, a Mini-review.
Adv Exp Med Biol. 2023;1415:189-194. doi: 10.1007/978-3-031-27681-1_28.
8
Retinal imaging in inherited retinal diseases.
Ann Eye Sci. 2020 Sep;5. doi: 10.21037/aes-20-81. Epub 2020 Sep 15.
9
Interspecies Correlations between Human and Mouse -Associated Recessive Disease.
J Clin Med. 2021 Jan 27;10(3):475. doi: 10.3390/jcm10030475.

本文引用的文献

1
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):105-8. doi: 10.3109/13816810.2012.726395. Epub 2012 Oct 5.
4
Focus on molecules: nuclear hormone receptor Nr2e3: impact on retinal development and disease.
Exp Eye Res. 2010 Aug;91(2):116-7. doi: 10.1016/j.exer.2010.04.013. Epub 2010 May 5.
5
Torpedo maculopathy at the site of the fetal "bulge".
Arch Ophthalmol. 2010 Apr;128(4):499-501. doi: 10.1001/archophthalmol.2010.29.
6
Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.
Arch Ophthalmol. 2010 Mar;128(3):344-8. doi: 10.1001/archophthalmol.2010.15.
7
Outer retinal tubulation: a novel optical coherence tomography finding.
Arch Ophthalmol. 2009 Dec;127(12):1596-602. doi: 10.1001/archophthalmol.2009.326.
8
Retinal pathology of a patient with Goldmann-Favre syndrome.
Ophthalmic Genet. 2009 Dec;30(4):172-80. doi: 10.3109/13816810903176765.
9
Torpedo maculopathy.
Br J Ophthalmol. 2010 Mar;94(3):302-6. doi: 10.1136/bjo.2009.162669. Epub 2009 Oct 12.
10
Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene.
Br J Ophthalmol. 2009 Sep;93(9):1234-40. doi: 10.1136/bjo.2008.153577. Epub 2009 May 7.

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