Similar articles for PMID: 21654732

Year	Number of Results
1995	1
1997	1
1998	1
2000	1
2001	4
2002	2
2003	3
2004	2
2005	4
2006	4
2007	6
2008	5
2009	5
2010	4
2011	13
2012	13
2013	20
2014	19
2015	11
2016	7
2017	10
2018	12
2019	6
2020	9
2021	2
2022	13
2023	5
2024	0

1

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.

2

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.

Kiang AS, Kenna PF, Humphries MM, Ozaki E, Koenekoop RK, Campbell M, Farrar GJ, Humphries P. Kiang AS, et al. Genes (Basel). 2020 Nov 27;11(12):1420. doi: 10.3390/genes11121420. Genes (Basel). 2020. PMID: 33261050 Free PMC article. Review.

3

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.

Jauregui R, Park KS, Tsang SH. Jauregui R, et al. Ophthalmic Genet. 2018 Aug;39(4):544-549. doi: 10.1080/13816810.2018.1484929. Ophthalmic Genet. 2018. PMID: 29947567 Free PMC article.

4

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Morimura H, et al. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6.3088. Proc Natl Acad Sci U S A. 1998. PMID: 9501220 Free PMC article.

5

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.

Jauregui R, Cho A, Oh JK, Tanaka AJ, Sparrow JR, Tsang SH. Jauregui R, et al. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004952. doi: 10.1101/mcs.a004952. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014860 Free PMC article.

6

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Sullivan LS, Bowne SJ, Koboldt DC, Blanton SH, Wheaton DK, Avery CE, Cadena ED, Koenekoop RK, Fulton RS, Wilson RK, Weinstock GM, Lewis RA, Birch DG. Daiger SP, et al. Adv Exp Med Biol. 2016;854:193-200. doi: 10.1007/978-3-319-17121-0_26. Adv Exp Med Biol. 2016. PMID: 26427411 Free PMC article.

7

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.

8

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R. Pomares E, et al. Eur J Hum Genet. 2010 Jan;18(1):118-24. doi: 10.1038/ejhg.2009.114. Eur J Hum Genet. 2010. PMID: 19584904 Free PMC article.

9

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.

Bereta G, Kiser PD, Golczak M, Sun W, Heon E, Saperstein DA, Palczewski K. Bereta G, et al. Biochemistry. 2008 Sep 16;47(37):9856-65. doi: 10.1021/bi800905v. Epub 2008 Aug 23. Biochemistry. 2008. PMID: 18722466 Free PMC article.

10

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N. Srilekha S, et al. PLoS One. 2015 Jul 6;10(7):e0131679. doi: 10.1371/journal.pone.0131679. eCollection 2015. PLoS One. 2015. PMID: 26147992 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

167 results

Results by year