Marina Riera
Affiliations: | Genetica | Universitat de Barcelona, Barcelona, Cataluña, Spain |
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"Marina Riera"
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| Domingo-Prim J, Abad-Morales V, Riera M, et al. (2019) Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene. Stem Cell Research. 40: 101569 |
| Domingo-Prim J, Riera M, Abad-Morales V, et al. (2019) Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene. Stem Cell Research. 40: 101570 |
| Domingo-Prim J, Riera M, Burés-Jelstrup A, et al. (2019) Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene. Stem Cell Research. 38: 101468 |
| Riera M, Abad-Morales V, Navarro R, et al. (2019) Expanding the retinal phenotype of : from retinitis pigmentosa to a novel and singular macular dystrophy. The British Journal of Ophthalmology |
| Riera M, Patel A, Burés-Jelstrup A, et al. (2019) Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations. Stem Cell Research. 36: 101389 |
| Riera M, Patel A, Corcostegui B, et al. (2019) Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene. Stem Cell Research. 35: 101386 |
| Riera M, Patel A, Corcostegui B, et al. (2019) Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations. Stem Cell Research. 35: 101385 |
| Zhao J, Ueda K, Riera M, et al. (2018) Bisretinoids mediate light sensitivity resulting in photoreceptor cell degeneration in mice lacking the receptor tyrosine kinase Mer. The Journal of Biological Chemistry |
| Riera M, Wert A, Nieto I, et al. (2017) Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. Molecular Genetics & Genomic Medicine. 5: 709-719 |
| Riera M, Navarro R, Ruiz-Nogales S, et al. (2017) Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. Scientific Reports. 7: 42078 |