Burés-Jelstrup A - Search Results

1

Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.

Pomares E, Burés-Jelstrup A, Ruiz-Nogales S, Corcóstegui B, González-Duarte R, Navarro R. Pomares E, et al. Invest Ophthalmol Vis Sci. 2012 Jan 31;53(1):532-7. doi: 10.1167/iovs.11-7964. Invest Ophthalmol Vis Sci. 2012. PMID: 22199244

2

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. Among authors: bures jelstrup a. Sci Rep. 2017 Feb 9;7:42078. doi: 10.1038/srep42078. Sci Rep. 2017. PMID: 28181551 Free PMC article.

3

Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.

Abad-Morales V, Burés-Jelstrup A, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcóstegui B, Pomares E. Abad-Morales V, et al. Among authors: bures jelstrup a. Exp Eye Res. 2019 Oct;187:107752. doi: 10.1016/j.exer.2019.107752. Epub 2019 Aug 5. Exp Eye Res. 2019. PMID: 31394102

4

Detection of ciliary body detachment with anterior segment optical coherence tomography.

Burés-Jelstrup A, Navarro R, Mateo C, Adan A, Corcóstegui B. Burés-Jelstrup A, et al. Acta Ophthalmol. 2008 Nov;86(7):810-1. doi: 10.1111/j.1600-0420.2007.01130.x. Epub 2008 Jan 24. Acta Ophthalmol. 2008. PMID: 18221496 Free article. No abstract available.

5

Visual and anatomical outcome after macular buckling for macular hole with associated foveoschisis in highly myopic eyes.

Burés-Jelstrup A, Alkabes M, Gómez-Resa M, Rios J, Corcóstegui B, Mateo C. Burés-Jelstrup A, et al. Br J Ophthalmol. 2014 Jan;98(1):104-9. doi: 10.1136/bjophthalmol-2013-304016. Epub 2013 Oct 29. Br J Ophthalmol. 2014. PMID: 24169656

6

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: bures jelstrup a. 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.

7

Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.

Abad-Morales V, Navarro R, Burés-Jelstrup A, Pomares E. Abad-Morales V, et al. Among authors: bures jelstrup a. Am J Ophthalmol Case Rep. 2020 May 8;19:100736. doi: 10.1016/j.ajoc.2020.100736. eCollection 2020 Sep. Am J Ophthalmol Case Rep. 2020. PMID: 32455177 Free PMC article.

8

Macular buckling for eyes with myopic foveoschisis secondary to posterior staphyloma.

Mateo C, Burés-Jelstrup A, Navarro R, Corcóstegui B. Mateo C, et al. Retina. 2012 Jun;32(6):1121-8. doi: 10.1097/IAE.0b013e31822e5c32. Retina. 2012. PMID: 22027863

9

Illuminated Ando plombe for optimal positioning in highly myopic eyes with vitreoretinal diseases secondary to posterior staphyloma.

Mateo C, Dutra Medeiros M, Alkabes M, Burés-Jelstrup A, Postorino M, Corcóstegui B. Mateo C, et al. JAMA Ophthalmol. 2013 Oct;131(10):1359-62. doi: 10.1001/jamaophthalmol.2013.4558. JAMA Ophthalmol. 2013. PMID: 23949132 No abstract available.

10

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. Among authors: bures jelstrup a. 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.

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