These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
311 related articles for article (PubMed ID: 29425069)
1. Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. Li S; Yang M; Liu W; Liu Y; Zhang L; Yang Y; Sundaresan P; Yang Z; Zhu X Genet Test Mol Biomarkers; 2018 Feb; 22(2):109-114. PubMed ID: 29425069 [TBL] [Abstract][Full Text] [Related]
2. Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa. Xie D; Peng K; Yi Q; Liu W; Yang Y; Sun K; Zhu X; Lu F Genet Test Mol Biomarkers; 2018 Jul; 22(7):425-432. PubMed ID: 29957067 [TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. Kurata K; Hosono K; Hotta Y Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431 [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. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa. Chen LJ; Lai TY; Tam PO; Chiang SW; Zhang X; Lam S; Lai RY; Lam DS; Pang CP Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Identification of Novel Tian W; Li X; Li Y; Wang L; Yang Y; Sun K; Liu W; Zhou B; Lei B; Zhu X Genet Test Mol Biomarkers; 2020 Nov; 24(11):745-753. PubMed ID: 33058741 [No Abstract] [Full Text] [Related]
9. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. Fernandez-San Jose P; Corton M; Blanco-Kelly F; Avila-Fernandez A; Lopez-Martinez MA; Sanchez-Navarro I; Sanchez-Alcudia R; Perez-Carro R; Zurita O; Sanchez-Bolivar N; Lopez-Molina MI; Garcia-Sandoval B; Riveiro-Alvarez R; Ayuso C Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2173-82. PubMed ID: 25698705 [TBL] [Abstract][Full Text] [Related]
10. Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. Yang M; Li S; Liu W; Yang Y; Zhang L; Zhang S; Jiang Z; Yang Z; Zhu X Genet Test Mol Biomarkers; 2018 Mar; 22(3):165-169. PubMed ID: 29437494 [TBL] [Abstract][Full Text] [Related]
11. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population. Di Y; Huang L; Sundaresan P; Li S; Kim R; Ballav Saikia B; Qu C; Zhu X; Zhou Y; Jiang Z; Zhang L; Lin Y; Zhang D; Li Y; Zhang H; Yin Y; Lu F; Zhu X; Yang Z Sci Rep; 2016 Jan; 6():19432. PubMed ID: 26787102 [TBL] [Abstract][Full Text] [Related]
12. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. El Shamieh S; Boulanger-Scemama E; Lancelot ME; Antonio A; Démontant V; Condroyer C; Letexier M; Saraiva JP; Mohand-Saïd S; Sahel JA; Audo I; Zeitz C Biomed Res Int; 2015; 2015():485624. PubMed ID: 25692139 [TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210 [TBL] [Abstract][Full Text] [Related]
14. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population. Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154 [TBL] [Abstract][Full Text] [Related]
15. Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations. Gu S; Tian Y; Chen X; Zhao C Mol Vis; 2016; 22():646-57. PubMed ID: 27375351 [TBL] [Abstract][Full Text] [Related]
16. 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 Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668 [TBL] [Abstract][Full Text] [Related]
17. RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Al-Rashed M; Abu Safieh L; Alkuraya H; Aldahmesh MA; Alzahrani J; Diya M; Hashem M; Hardcastle AJ; Al-Hazzaa SA; Alkuraya FS Br J Ophthalmol; 2012 Jul; 96(7):1018-22. PubMed ID: 22317909 [TBL] [Abstract][Full Text] [Related]
18. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Clark GR; Crowe P; Muszynska D; O'Prey D; O'Neill J; Alexander S; Willoughby CE; McKay GJ; Silvestri G; Simpson DA Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Audo I; Mohand-Saïd S; Dhaenens CM; Germain A; Orhan E; Antonio A; Hamel C; Sahel JA; Bhattacharya SS; Zeitz C Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]