BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

346 related articles for article (PubMed ID: 29034877)

  • 1. Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
    Terray A; Slembrouck A; Nanteau C; Chondroyer C; Zeitz C; Sahel JA; Audo I; Reichman S; Goureau O
    Stem Cell Res; 2017 Oct; 24():1-4. PubMed ID: 29034877
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.
    Terray A; Fort V; Slembrouck A; Nanteau C; Sahel JA; Reichman S; Audo I; Goureau O
    Stem Cell Res; 2017 Dec; 25():26-29. PubMed ID: 29040912
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene.
    Domingo-Prim J; Riera M; Burés-Jelstrup A; Corcostegui B; Pomares E
    Stem Cell Res; 2019 Jul; 38():101468. PubMed ID: 31146251
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.
    Diakatou M; Dubois G; Erkilic N; Sanjurjo-Soriano C; Meunier I; Kalatzis V
    Int J Mol Sci; 2021 Mar; 22(5):. PubMed ID: 33807610
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
    Blanco-Kelly F; García Hoyos M; Lopez Martinez MA; Lopez-Molina MI; Riveiro-Alvarez R; Fernandez-San Jose P; Avila-Fernandez A; Corton M; Millan JM; García Sandoval B; Ayuso C
    PLoS One; 2016; 11(2):e0149473. PubMed ID: 26910043
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing
    Naessens S; Ruysschaert L; Lefever S; Coppieters F; De Baere E
    Genes (Basel); 2019 May; 10(5):. PubMed ID: 31083481
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.
    Riera M; Patel A; Corcostegui B; Chang S; Corneo B; Sparrow JR; Pomares E
    Stem Cell Res; 2019 Mar; 35():101386. PubMed ID: 30685615
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.
    Sanjurjo-Soriano C; Erkilic N; Manes G; Dubois G; Hamel CP; Meunier I; Kalatzis V
    Stem Cell Res; 2018 Dec; 33():228-232. PubMed ID: 30453153
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
    Lukovic D; Bolinches-Amorós A; Artero-Castro A; Pascual B; Carballo M; Hernan I; Erceg S
    Stem Cell Res; 2017 May; 21():23-25. PubMed ID: 28677533
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.
    Bolinches-Amorós A; León M; Del Buey Furió V; Marfany G; Gonzàlez-Duarte R; Erceg S; Lukovic D
    Stem Cell Res; 2019 Jul; 38():101455. PubMed ID: 31082679
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations.
    Riera M; Patel A; Corcostegui B; Chang S; Sparrow JR; Pomares E; Corneo B
    Stem Cell Res; 2019 Mar; 35():101385. PubMed ID: 30685614
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.
    Zhang X; Moon SY; Zhang D; Chen SC; Lamey T; Thompson JA; McLaren T; De Roach JN; McLenachan S; Chen FK
    Stem Cell Res; 2019 May; 37():101452. PubMed ID: 31059986
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
    Coppieters F; Leroy BP; Beysen D; Hellemans J; De Bosscher K; Haegeman G; Robberecht K; Wuyts W; Coucke PJ; De Baere E
    Am J Hum Genet; 2007 Jul; 81(1):147-57. PubMed ID: 17564971
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Integration-free induced pluripotent stem cells derived from retinitis pigmentosa patient for disease modeling.
    Jin ZB; Okamoto S; Xiang P; Takahashi M
    Stem Cells Transl Med; 2012 Jun; 1(6):503-9. PubMed ID: 23197854
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.
    Calado SM; Garcia-Delgado AB; De la Cerda B; Ponte-Zuñiga B; Bhattacharya SS; Díaz-Corrales FJ
    Stem Cell Res; 2018 Dec; 33():251-254. PubMed ID: 30471616
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration.
    Cristo F; Inácio JM; Rosas G; Carreira IM; Melo JB; de Almeida LP; Mendes P; Martins DS; Maio J; Anjos R; Belo JA
    Stem Cell Res; 2017 Dec; 25():152-156. PubMed ID: 29136563
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.
    Gire AI; Sullivan LS; Bowne SJ; Birch DG; Hughbanks-Wheaton D; Heckenlively JR; Daiger SP
    Mol Vis; 2007 Oct; 13():1970-5. PubMed ID: 17982421
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
    de la Cerda B; Díez-Lloret A; Ponte B; Vallés-Saiz L; Calado SM; Rodríguez-Bocanegra E; Garcia-Delgado AB; Moya-Molina M; Bhattacharya SS; Díaz-Corrales FJ
    Stem Cell Res; 2019 Apr; 36():101426. PubMed ID: 30921587
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.
    Zhang X; Zhang D; Chen SC; Lamey T; Thompson JA; McLaren T; De Roach JN; Chen FK; McLenachan S
    Stem Cell Res; 2018 Aug; 31():147-151. PubMed ID: 30092450
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.
    Yang Y; Zhang X; Chen LJ; Chiang SW; Tam PO; Lai TY; Chan CK; Wang N; Lam DS; Pang CP
    Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2229-35. PubMed ID: 19933183
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.