254 related articles for article (PubMed ID: 25544989)
1. 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]
2. 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]
3. Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X; Sheng X; Liu Y; Li Z; Sun X; Jiang C; Qi R; Yuan S; Wang X; Zhou G; Zhen Y; Xie P; Liu Q; Yan B; Zhao C
J Transl Med; 2018 May; 16(1):145. PubMed ID: 29843741
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
Beheshtian M; Saee Rad S; Babanejad M; Mohseni M; Hashemi H; Eshghabadi A; Hajizadeh F; Akbari MR; Kahrizi K; Riazi Esfahani M; Najmabadi H
Arch Iran Med; 2015 Nov; 18(11):776-85. PubMed ID: 26497376
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
de Sousa Dias M; Hernan I; Delás B; Pascual B; Borràs E; Gamundi MJ; Mañé B; Fernández-San José P; Ayuso C; Carballo M
Mol Vis; 2015; 21():857-70. PubMed ID: 26321861
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Beryozkin A; Levy G; Blumenfeld A; Meyer S; Namburi P; Morad Y; Gradstein L; Swaroop A; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2016 Mar; 57(3):940-7. PubMed ID: 26962691
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.
Tiwari A; Lemke J; Altmueller J; Thiele H; Glaus E; Fleischhauer J; Nürnberg P; Neidhardt J; Berger W
PLoS One; 2016; 11(7):e0158692. PubMed ID: 27391102
[TBL] [Abstract][Full Text] [Related]
14. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO; Zuntini M; Digiuni M; Bazzanella I; Ferri P; Paderni R; Rossetti LM; Cecchin S; Orzalesi N; Bertelli M
Genet Mol Res; 2014 Oct; 13(4):8815-33. PubMed ID: 25366773
[TBL] [Abstract][Full Text] [Related]
15. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Liu YP; Bosch DG; Siemiatkowska AM; Rendtorff ND; Boonstra FN; Möller C; Tranebjærg L; Katsanis N; Cremers FP
Ophthalmic Genet; 2017; 38(2):127-132. PubMed ID: 27029556
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F; Van Schil K; Bauwens M; Verdin H; De Jaegher A; Syx D; Sante T; Lefever S; Abdelmoula NB; Depasse F; Casteels I; de Ravel T; Meire F; Leroy BP; De Baere E
Genet Med; 2014 Sep; 16(9):671-80. PubMed ID: 24625443
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK; Cao Y; Yuan XL; Chen S; Xu Y; Chen SL; Zheng Y; Chen H
Eye (Lond); 2022 Apr; 36(4):749-759. PubMed ID: 33846575
[TBL] [Abstract][Full Text] [Related]
20. Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.
Abu-Ameerh M; Mohammad H; Dardas Z; Barham R; Ali D; Bijawi M; Tawalbeh M; Amr S; Hatmal MM; Al-Bdour M; Awidi A; Azab B
Mol Genet Genomic Med; 2020 Mar; 8(3):e1123. PubMed ID: 31968401
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]