556 related articles for article (PubMed ID: 25097241)
1. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J; Zhang VW; Feng Y; Tian X; Li FY; Truong C; Wang G; Chiang PW; Lewis RA; Wong LJ
Invest Ophthalmol Vis Sci; 2014 Aug; 55(10):6213-23. PubMed ID: 25097241
[TBL] [Abstract][Full Text] [Related]
2. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Oishi M; Oishi A; Gotoh N; Ogino K; Higasa K; Iida K; Makiyama Y; Morooka S; Matsuda F; Yoshimura N
Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7369-75. PubMed ID: 25324289
[TBL] [Abstract][Full Text] [Related]
3. Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Yang L; Cui H; Yin X; Dou H; Zhao L; Chen N; Zhang J; Zhang H; Li G; Ma Z
PLoS One; 2015; 10(10):e0140684. PubMed ID: 26496393
[TBL] [Abstract][Full Text] [Related]
4. Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.
Daiger SP; Sullivan LS; Bowne SJ; Birch DG; Heckenlively JR; Pierce EA; Weinstock GM
Adv Exp Med Biol; 2010; 664():325-31. PubMed ID: 20238032
[TBL] [Abstract][Full Text] [Related]
5. Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.
Huang H; Chen Y; Chen H; Ma Y; Chiang PW; Zhong J; Liu X; Asan ; Wu J; Su Y; Li X; Deng J; Huang Y; Zhang X; Li Y; Fan N; Wang Y; Tang L; Shen J; Chen M; Zhang X; Te D; Banerjee S; Liu H; Qi M; Yi X
PLoS One; 2018; 13(4):e0185237. PubMed ID: 29641573
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL; O'Sullivan J; Ashworth J; Bhaskar S; Williams S; Biswas S; Kehdi E; Ramsden SC; Clayton-Smith J; Black GC; Lloyd IC
Ophthalmology; 2014 Nov; 121(11):2124-37.e1-2. PubMed ID: 25148791
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
Sippel KC; DeStefano JD; Berson EL; Dryja TP
Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):665-70. PubMed ID: 9501883
[TBL] [Abstract][Full Text] [Related]
11. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.
Sivakumaran TA; Husami A; Kissell D; Zhang W; Keddache M; Black AP; Tinkle BT; Greinwald JH; Zhang K
Otolaryngol Head Neck Surg; 2013 Jun; 148(6):1007-16. PubMed ID: 23525850
[TBL] [Abstract][Full Text] [Related]
12. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Fu Q; Wang F; Wang H; Xu F; Zaneveld JE; Ren H; Keser V; Lopez I; Tuan HF; Salvo JS; Wang X; Zhao L; Wang K; Li Y; Koenekoop RK; Chen R; Sui R
Invest Ophthalmol Vis Sci; 2013 Jun; 54(6):4158-66. PubMed ID: 23661369
[TBL] [Abstract][Full Text] [Related]
13. Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.
Maeda A; Yoshida A; Kawai K; Arai Y; Akiba R; Inaba A; Takagi S; Fujiki R; Hirami Y; Kurimoto Y; Ohara O; Takahashi M
Jpn J Ophthalmol; 2018 Jul; 62(4):451-457. PubMed ID: 29785639
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
Shen T; Guan L; Li S; Zhang J; Xiao X; Jiang H; Yang J; Guo X; Wang J; Zhang Q
Mol Med Rep; 2015 Mar; 11(3):1827-32. PubMed ID: 25377065
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X; Wang H; Sun V; Tuan HF; Keser V; Wang K; Ren H; Lopez I; Zaneveld JE; Siddiqui S; Bowles S; Khan A; Salvo J; Jacobson SG; Iannaccone A; Wang F; Birch D; Heckenlively JR; Fishman GA; Traboulsi EI; Li Y; Wheaton D; Koenekoop RK; Chen R
J Med Genet; 2013 Oct; 50(10):674-88. PubMed ID: 23847139
[TBL] [Abstract][Full Text] [Related]
17. [Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].
Chen X; Gao X; Zhao KX; Pan XY; Zhang XM; Wang XY; Yuan ST; Liu QH; Zhao C
Zhonghua Yan Ke Za Zhi; 2013 Dec; 49(12):1104-10. PubMed ID: 24499697
[TBL] [Abstract][Full Text] [Related]
18. Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.
Simpson DA; Clark GR; Alexander S; Silvestri G; Willoughby CE
J Med Genet; 2011 Mar; 48(3):145-51. PubMed ID: 21147909
[TBL] [Abstract][Full Text] [Related]
19. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Wada Y; Sandberg MA; McGee TL; Stillberger MA; Berson EL; Dryja TP
Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
[TBL] [Abstract][Full Text] [Related]
20. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I; Chiesi L; Tenedini E; Artuso L; Percesepe A; Artusi V; Simone ML; Manfredini R; Camparini M; Rinaldi C; Ciardella A; Graziano C; Balducci N; Tranchina A; Cavallini GM; Pietrangelo A; Marigo V; Tagliafico E
Biomed Res Int; 2016; 2016():6341870. PubMed ID: 28127548
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]