493 related articles for article (PubMed ID: 25999675)
1. 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
Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
[TBL] [Abstract][Full Text] [Related]
2. 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
Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
[TBL] [Abstract][Full Text] [Related]
3. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y; Guan L; Shen T; Zhang J; Xiao X; Jiang H; Li S; Yang J; Jia X; Yin Y; Guo X; Wang J; Zhang Q
Hum Genet; 2014 Oct; 133(10):1255-71. PubMed ID: 24938718
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
Huang L; Zhang Q; Li S; Guan L; Xiao X; Zhang J; Jia X; Sun W; Zhu Z; Gao Y; Yin Y; Wang P; Guo X; Wang J; Zhang Q
PLoS One; 2013; 8(6):e65546. PubMed ID: 23776498
[TBL] [Abstract][Full Text] [Related]
5. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
[TBL] [Abstract][Full Text] [Related]
6. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B; Li J; Fernandez-San Jose P; Liu Y; March M; Pellegrino R; Golhar R; Corton M; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Guo Y; Tian L; Liu X; Guan L; Zhang J; Keating B; Xu X; Hakonarson H; Ayuso C
PLoS One; 2015; 10(7):e0133624. PubMed ID: 26197217
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y; Xiao X; Li S; Jia X; Xin W; Wang P; Sun W; Huang L; Guo X; Zhang Q
Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
[TBL] [Abstract][Full Text] [Related]
8. 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
Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2259-68. PubMed ID: 24618324
[TBL] [Abstract][Full Text] [Related]
9. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M; Nishiguchi KM; Avila-Fernández A; Nikopoulos K; Riveiro-Alvarez R; Tatu SD; Ayuso C; Rivolta C
PLoS One; 2013; 8(6):e65574. PubMed ID: 23940504
[TBL] [Abstract][Full Text] [Related]
11. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
Li S; Shen T; Xiao X; Guo X; Zhang Q
Int J Mol Med; 2014 Apr; 33(4):913-8. PubMed ID: 24535598
[TBL] [Abstract][Full Text] [Related]
12. 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
Int J Mol Med; 2016 Jun; 37(6):1528-34. PubMed ID: 27082927
[TBL] [Abstract][Full Text] [Related]
13. 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
Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
[TBL] [Abstract][Full Text] [Related]
14. 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
Int J Mol Med; 2014 Aug; 34(2):573-7. PubMed ID: 24913019
[TBL] [Abstract][Full Text] [Related]
15. Whole exome sequencing reveals novel
Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
[TBL] [Abstract][Full Text] [Related]
16. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Davidson AE; Sergouniotis PI; Mackay DS; Wright GA; Waseem NH; Michaelides M; Holder GE; Robson AG; Moore AT; Plagnol V; Webster AR
Hum Mutat; 2013 Mar; 34(3):506-14. PubMed ID: 23281133
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
González-del Pozo M; Méndez-Vidal C; Bravo-Gil N; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
PLoS One; 2014; 9(12):e116176. PubMed ID: 25544989
[TBL] [Abstract][Full Text] [Related]
18. 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
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
19. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
[TBL] [Abstract][Full Text] [Related]
20. 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
JAMA Ophthalmol; 2015 Mar; 133(3):312-8. PubMed ID: 25541840
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
