Lu Z, Wang L, Ying X, Tan L
BMC Ophthalmol. 2023; 23(1):458.
PMID: 37968604
PMC: 10648655.
DOI: 10.1186/s12886-023-03190-y.
Tawfik C, Roshdy M, Morris N
BMC Ophthalmol. 2023; 23(1):422.
PMID: 37864132
PMC: 10588215.
DOI: 10.1186/s12886-023-03163-1.
Wang H, Cong P, He T, Yu X, Huo Y
Int J Ophthalmol. 2023; 16(10):1595-1600.
PMID: 37854381
PMC: 10559041.
DOI: 10.18240/ijo.2023.10.06.
Liu X, Qiao J, Jia R, Zhang F, Meng X, Li Y
Elife. 2023; 12.
PMID: 37272616
PMC: 10279453.
DOI: 10.7554/eLife.84065.
Nguyen X, Moekotte L, Plomp A, Bergen A, van Genderen M, Boon C
Int J Mol Sci. 2023; 24(8).
PMID: 37108642
PMC: 10139437.
DOI: 10.3390/ijms24087481.
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
BMC Ophthalmol. 2023; 23(1):116.
PMID: 36959549
PMC: 10035148.
DOI: 10.1186/s12886-023-02845-0.
A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.
Xu W, Xu M, Yin Q, Liu C, Cao Q, Deng Y
BMC Med Genomics. 2023; 16(1):9.
PMID: 36650547
PMC: 9847046.
DOI: 10.1186/s12920-023-01430-0.
Research trends in the field of retinitis pigmentosa from 2002 to 2021: a 20 years bibliometric analysis.
Lin F, Xie M, Sheng X, Guo L, Jia J, Wang Y
Int Ophthalmol. 2022; 43(6):1825-1833.
PMID: 36401671
DOI: 10.1007/s10792-022-02581-2.
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith 3rd J, Sioufi K, Wilbanks L, Magrath G, Say E, Lyons M
Genes (Basel). 2022; 13(8).
PMID: 36011402
PMC: 9407983.
DOI: 10.3390/genes13081490.
Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
Shen C, You B, Chen Y, Li Y, Li W, Wei W
Mol Vis. 2022; 28:96-113.
PMID: 35814500
PMC: 9239900.
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.
Westin I, Jonsson F, Osterman L, Holmberg M, Burstedt M, Golovleva I
Sci Rep. 2021; 11(1):7696.
PMID: 33833316
PMC: 8032658.
DOI: 10.1038/s41598-021-87224-9.
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z, Xie Y, Liu L, Shao J, Liu Y, Kong X
BMC Med Genomics. 2021; 14(1):92.
PMID: 33781268
PMC: 8008643.
DOI: 10.1186/s12920-021-00935-w.
Metabolic Syndromes as Important Comorbidities in Patients of Inherited Retinal Degenerations: Experiences from the Nationwide Health Database and a Large Hospital-Based Cohort.
Chiou G, Huang D, Hu F, Yang C, Yang C, Huang C
Int J Environ Res Public Health. 2021; 18(4).
PMID: 33672521
PMC: 7923804.
DOI: 10.3390/ijerph18042065.
Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.
Cao L, Peng C, Yu J, Jiang W, Yang J
Mol Genet Genomic Med. 2020; 8(12):e1537.
PMID: 33085829
PMC: 7767543.
DOI: 10.1002/mgg3.1537.
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y, Li W, Li J, Wang Z, Bai J, Xu L
Mol Genet Genomic Med. 2020; 8(4):e1184.
PMID: 32100970
PMC: 7196472.
DOI: 10.1002/mgg3.1184.
Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.
Liu X, Tao T, Qi H, Feng S, Chen N, Zhao L
Int J Ophthalmol. 2020; 13(2):220-230.
PMID: 32090030
PMC: 7013795.
DOI: 10.18240/ijo.2020.02.04.
A novel mutation in , causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
Zheng Y, Wang H, Li J, Xu L, Tellier L, Li X
Int J Ophthalmol. 2018; 11(1):31-35.
PMID: 29375987
PMC: 5767654.
DOI: 10.18240/ijo.2018.01.06.
Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.
Gao F, Zhang S, Chen J, Xu G, Wu J
Int J Ophthalmol. 2017; 10(2):325-328.
PMID: 28251098
PMC: 5313562.
DOI: 10.18240/ijo.2017.02.25.
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
Zhong Z, Yan M, Sun W, Wu Z, Han L, Zhou Z
Sci Rep. 2016; 6:37840.
PMID: 27886254
PMC: 5122955.
DOI: 10.1038/srep37840.
A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.
Zhang J, Wang C, Shen Y, Chen N, Wang L, Liang L
Hum Genet. 2016; 135(12):1375-1387.
PMID: 27655171
DOI: 10.1007/s00439-016-1730-2.