Similar articles for PMID: 30619975

Year	Number of Results
1990	1
1995	1
1998	1
2001	1
2007	2
2008	1
2009	1
2010	3
2011	3
2012	6
2013	9
2014	9
2015	5
2016	4
2017	3
2018	5
2019	7
2020	6
2021	3
2022	4
2023	1
2024	2

1

Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X).

Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T. Mizobuchi K, et al. Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar. Am J Ophthalmol Case Rep. 2018. PMID: 30619975 Free PMC article.

2

A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.

Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. Hayashi T, et al. Doc Ophthalmol. 2021 Aug;143(1):107-114. doi: 10.1007/s10633-021-09826-y. Epub 2021 Feb 21. Doc Ophthalmol. 2021. PMID: 33611760

3

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Mol Vis. 2015 Aug 18;21:871-82. eCollection 2015. Mol Vis. 2015. PMID: 26321862 Free PMC article.

4

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

Zobor D, Balousha G, Baumann B, Wissinger B. Zobor D, et al. Mol Vis. 2014 Feb 7;20:178-82. eCollection 2014. Mol Vis. 2014. PMID: 24520187 Free PMC article.

5

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.

Kjellström U, Veiga-Crespo P, Andréasson S, Ekström P. Kjellström U, et al. Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6048-6057. doi: 10.1167/iovs.16-19861. Invest Ophthalmol Vis Sci. 2016. PMID: 27820873

6

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Kuehlewein L, et al. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.

7

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T. Katagiri S, et al. Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. Ophthalmic Genet. 2018. PMID: 29630435

8

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Nair P, Hamzeh AR, Malik EM, Oberoi D, Al-Ali MT, Bastaki F. Nair P, et al. Oman J Ophthalmol. 2017 Sep-Dec;10(3):228-231. doi: 10.4103/ojo.OJO_213_2016. Oman J Ophthalmol. 2017. PMID: 29118501 Free PMC article.

9

[Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage].

Rong WN, Sheng XL, Liu YN. Rong WN, et al. Zhonghua Yan Ke Za Zhi. 2012 Oct;48(10):893-7. Zhonghua Yan Ke Za Zhi. 2012. PMID: 23302243 Chinese.

10

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. Dvir L, et al. Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655036 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

71 results

Results by year