PubMed for Bookshelf ID: 1497410

Year	Number of Results
1994	1
1996	2
1999	1
2000	1
2002	1
2003	1
2006	1
2007	1
2011	1
2012	2
2013	1
2014	3
2015	1
2016	1
2017	1
2018	1
2019	3
2020	2
2021	1
2024	0

1

Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes.

Shen LL, Ahluwalia A, Sun M, Young BK, Grossetta Nardini HK, Del Priore LV. Shen LL, et al. Br J Ophthalmol. 2021 Feb;105(2):271-278. doi: 10.1136/bjophthalmol-2020-316028. Epub 2020 May 29. Br J Ophthalmol. 2021. PMID: 32471821 Free PMC article.

2

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.

Jones KD, Radziwon A, Birch DG, MacDonald IM. Jones KD, et al. Ophthalmic Genet. 2020 Aug;41(4):341-344. doi: 10.1080/13816810.2020.1768557. Epub 2020 May 22. Ophthalmic Genet. 2020. PMID: 32441177 Free PMC article.

3

Molecular Therapies for Choroideremia.

Cehajic Kapetanovic J, Barnard AR, MacLaren RE. Cehajic Kapetanovic J, et al. Genes (Basel). 2019 Sep 23;10(10):738. doi: 10.3390/genes10100738. Genes (Basel). 2019. PMID: 31548516 Free PMC article. Review.

4

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH. Jauregui R, et al. Am J Ophthalmol. 2019 Nov;207:77-86. doi: 10.1016/j.ajo.2019.06.002. Epub 2019 Jun 8. Am J Ophthalmol. 2019. PMID: 31181178 Free PMC article.

5

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30341801

6

Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients.

Zhou Q, Yao F, Han X, Li H, Yang L, Sui R. Zhou Q, et al. Exp Eye Res. 2017 Nov;164:64-73. doi: 10.1016/j.exer.2017.07.016. Epub 2017 Jul 31. Exp Eye Res. 2017. PMID: 28774736

7

Clinical and Genetic Features of Choroideremia in Childhood.

Khan KN, Islam F, Moore AT, Michaelides M. Khan KN, et al. Ophthalmology. 2016 Oct;123(10):2158-65. doi: 10.1016/j.ophtha.2016.06.051. Epub 2016 Aug 6. Ophthalmology. 2016. PMID: 27506488

8

Correlation of retinal structure and function in choroideremia carriers.

Edwards TL, Groppe M, Jolly JK, Downes SM, MacLaren RE. Edwards TL, et al. Ophthalmology. 2015 Jun;122(6):1274-6. doi: 10.1016/j.ophtha.2014.12.036. Epub 2015 Feb 11. Ophthalmology. 2015. PMID: 25682176 No abstract available.

9

Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab.

Palejwala NV, Lauer AK, Weleber RG. Palejwala NV, et al. Clin Ophthalmol. 2014 Sep 1;8:1675-9. doi: 10.2147/OPTH.S68243. eCollection 2014. Clin Ophthalmol. 2014. PMID: 25214760 Free PMC article.

10

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q. Li S, et al. Int J Mol Med. 2014 Aug;34(2):573-7. doi: 10.3892/ijmm.2014.1797. Epub 2014 Jun 6. Int J Mol Med. 2014. PMID: 24913019

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