Similar articles for PMID: 25823529

Year	Number of Results
1998	1
1999	1
2000	3
2002	2
2003	3
2004	6
2005	2
2007	2
2008	1
2009	1
2010	2
2011	2
2013	4
2014	7
2015	5
2016	7
2017	3
2018	5
2019	2
2020	4
2021	5
2022	5
2023	3
2024	0

1

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G. Pozo MG, et al. Am J Med Genet A. 2015 Jul;167(7):1597-600. doi: 10.1002/ajmg.a.37003. Epub 2015 Mar 30. Am J Med Genet A. 2015. PMID: 25823529

2

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Aller E, Nájera C, Millán JM, Oltra JS, Pérez-Garrigues H, Vilela C, Navea A, Beneyto M. Aller E, et al. Eur J Hum Genet. 2004 May;12(5):407-10. doi: 10.1038/sj.ejhg.5201138. Eur J Hum Genet. 2004. PMID: 14970843

3

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G. Méndez-Vidal C, et al. Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013. Mol Vis. 2013. PMID: 24227914 Free PMC article.

4

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X. Zhu X, et al. Mol Med Rep. 2020 Jul;22(1):193-200. doi: 10.3892/mmr.2020.11087. Epub 2020 Apr 22. Mol Med Rep. 2020. PMID: 32319668 Free PMC article.

5

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.

Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU. Aziz N, et al. BMC Ophthalmol. 2023 Mar 23;23(1):116. doi: 10.1186/s12886-023-02845-0. BMC Ophthalmol. 2023. PMID: 36959549 Free PMC article.

6

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 Free PMC article.

7

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y. Zhao Y, et al. J Hum Genet. 2014 Sep;59(9):521-8. doi: 10.1038/jhg.2014.65. Epub 2014 Jul 31. J Hum Genet. 2014. PMID: 25078356

8

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP. Seyedahmadi BJ, et al. Exp Eye Res. 2004 Aug;79(2):167-73. doi: 10.1016/j.exer.2004.03.005. Exp Eye Res. 2004. PMID: 15325563

9

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu J, Jiang F, Wang Q, Liu M. Liu X, et al. Mol Vis. 2010 Mar 17;16:454-61. doi: 10.1167/3.9.454. Mol Vis. 2010. PMID: 20309401 Free PMC article.

10

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Vincent AL, Abeysekera N, van Bysterveldt KA, Oliver VF, Ellingford JM, Barton S, Black GC. Vincent AL, et al. Clin Exp Ophthalmol. 2017 Dec;45(9):901-910. doi: 10.1111/ceo.12983. Epub 2017 Jun 13. Clin Exp Ophthalmol. 2017. PMID: 28488341

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