Riera M - Search Results

1

Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene.

Domingo-Prim J, Abad-Morales V, Riera M, Navarro R, Corcostegui B, Pomares E. Domingo-Prim J, et al. Among authors: riera m. Stem Cell Res. 2019 Oct;40:101569. doi: 10.1016/j.scr.2019.101569. Epub 2019 Sep 4. Stem Cell Res. 2019. PMID: 31520890 Free article.

2

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. Riera M, et al. Stem Cell Res. 2019 Mar;35:101385. doi: 10.1016/j.scr.2019.101385. Epub 2019 Jan 17. Stem Cell Res. 2019. PMID: 30685614 Free article.

3

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. Riera M, et al. Stem Cell Res. 2019 Mar;35:101386. doi: 10.1016/j.scr.2019.101386. Epub 2019 Jan 17. Stem Cell Res. 2019. PMID: 30685615 Free article.

4

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.

Riera M, Patel A, Burés-Jelstrup A, Corcostegui B, Chang S, Pomares E, Corneo B, Sparrow JR. Riera M, et al. Stem Cell Res. 2019 Apr;36:101389. doi: 10.1016/j.scr.2019.101389. Epub 2019 Feb 13. Stem Cell Res. 2019. PMID: 30798147 Free PMC article.

5

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. Domingo-Prim J, et al. Among authors: riera m. Stem Cell Res. 2019 Jul;38:101468. doi: 10.1016/j.scr.2019.101468. Epub 2019 May 22. Stem Cell Res. 2019. PMID: 31146251 Free article.

6

Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene.

Domingo-Prim J, Riera M, Abad-Morales V, Ruiz-Nogales S, Corcostegui B, Pomares E. Domingo-Prim J, et al. Among authors: riera m. Stem Cell Res. 2019 Oct;40:101570. doi: 10.1016/j.scr.2019.101570. Epub 2019 Sep 4. Stem Cell Res. 2019. PMID: 31518904 Free article.

7

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.

Riera M, Abad-Morales V, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcostegui B, Pomares E. Riera M, et al. Br J Ophthalmol. 2020 Feb;104(2):173-181. doi: 10.1136/bjophthalmol-2018-313672. Epub 2019 May 11. Br J Ophthalmol. 2020. PMID: 31079053

8

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

Riera M, Navarro R, Ruiz-Nogales S, Méndez P, Burés-Jelstrup A, Corcóstegui B, Pomares E. Riera M, et al. Sci Rep. 2017 Feb 9;7:42078. doi: 10.1038/srep42078. Sci Rep. 2017. PMID: 28181551 Free PMC article.

9

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G. Pomares E, et al. Among authors: riera m. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208. Epub 2009 Jun 10. Invest Ophthalmol Vis Sci. 2009. PMID: 19516003

10

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

Riera M, Wert A, Nieto I, Pomares E. Riera M, et al. Mol Genet Genomic Med. 2017 Nov;5(6):709-719. doi: 10.1002/mgg3.329. Epub 2017 Aug 21. Mol Genet Genomic Med. 2017. PMID: 29178648 Free PMC article.

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