Similar articles for PMID: 24913019

Year	Number of Results
1948	1
1950	1
1955	1
1962	1
1988	1
1992	1
1993	2
1994	4
1995	1
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1997	3
1998	2
1999	2
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2008	2
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2013	14
2014	17
2015	27
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2017	19
2018	24
2019	10
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2023	3
2024	0

1

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

2

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.

Guo H, Li J, Gao F, Li J, Wu X, Liu Q. Guo H, et al. BMC Ophthalmol. 2015 Jul 28;15:85. doi: 10.1186/s12886-015-0081-4. BMC Ophthalmol. 2015. PMID: 26216097 Free PMC article.

3

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC. Chacon-Camacho OF, et al. Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27. Gene. 2013. PMID: 23900199

4

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

de Castro-Miró M, Tonda R, Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R. de Castro-Miró M, et al. Br J Ophthalmol. 2018 Oct;102(10):1378-1386. doi: 10.1136/bjophthalmol-2017-311427. Epub 2018 Jan 24. Br J Ophthalmol. 2018. PMID: 29367200

5

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q. Xu Y, et al. Mol Vis. 2015 Apr 28;21:477-86. eCollection 2015. Mol Vis. 2015. PMID: 25999675 Free PMC article.

6

A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.

Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L. Ouyang P, et al. Mol Med Rep. 2018 Jun;17(6):7918-7924. doi: 10.3892/mmr.2018.8851. Epub 2018 Apr 5. Mol Med Rep. 2018. PMID: 29620233

7

Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.

Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Trinavarat A, Atchaneeyasakul LO. Jinda W, et al. Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2259-68. doi: 10.1167/iovs.13-13567. Invest Ophthalmol Vis Sci. 2014. PMID: 24618324

8

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. Bowne SJ, et al. Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654732 Free PMC article.

9

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.

Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J. Liu S, et al. Int J Mol Med. 2016 Jun;37(6):1528-34. doi: 10.3892/ijmm.2016.2551. Epub 2016 Apr 8. Int J Mol Med. 2016. PMID: 27082927 Free PMC article.

10

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D. Shevach E, et al. JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251. JAMA Ophthalmol. 2015. PMID: 25541840

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