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2012 1
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2021 2
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Page 1
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: perez carro r. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Unilateral deafness associated with a glossopharyngeal neurinoma.
Betances Reinoso FA, Pérez-Carro RA, Chiesa Estomba CM. Betances Reinoso FA, et al. Among authors: perez carro ra. Acta Otorrinolaringol Esp. 2017 Mar-Apr;68(2):129-130. doi: 10.1016/j.otorri.2016.02.008. Epub 2016 May 17. Acta Otorrinolaringol Esp. 2017. PMID: 27206392 Free article. English, Spanish. No abstract available.
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C. Perez-Carro R, et al. Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Sci Rep. 2016. PMID: 26806561 Free PMC article.
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C. Sanchez-Alcudia R, et al. Among authors: perez carro r. PLoS One. 2016 Apr 12;11(4):e0151943. doi: 10.1371/journal.pone.0151943. eCollection 2016. PLoS One. 2016. PMID: 27070432 Free PMC article.
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R, Blanco-Kelly F, Galbis-Martínez L, García-García G, Aller E, García-Sandoval B, Mínguez P, Corton M, Mahíllo-Fernández I, Martín-Mérida I, Avila-Fernández A, Millán JM, Ayuso C. Pérez-Carro R, et al. PLoS One. 2018 Jun 18;13(6):e0199048. doi: 10.1371/journal.pone.0199048. eCollection 2018. PLoS One. 2018. PMID: 29912909 Free PMC article.
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
Corton M, Avila-Fernández A, Campello L, Sánchez M, Benavides B, López-Molina MI, Fernández-Sánchez L, Sánchez-Alcudia R, da Silva LRJ, Reyes N, Martín-Garrido E, Zurita O, Fernández-San José P, Pérez-Carro R, García-García F, Dopazo J, García-Sandoval B, Cuenca N, Ayuso C. Corton M, et al. Among authors: perez carro r. Sci Rep. 2016 Oct 13;6:35370. doi: 10.1038/srep35370. Sci Rep. 2016. PMID: 27734943 Free PMC article.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Sanchez-Navarro I, et al. Among authors: perez carro r. Sci Rep. 2018 Mar 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. Sci Rep. 2018. PMID: 29588463 Free PMC article.
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Martin-Merida I, Sanchez-Alcudia R, Fernandez-San Jose P, Blanco-Kelly F, Perez-Carro R, Rodriguez-Jacy da Silva L, Almoguera B, Garcia-Sandoval B, Lopez-Molina MI, Avila-Fernandez A, Carballo M, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: perez carro r. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1045-1053. doi: 10.1167/iovs.16-20515. Invest Ophthalmol Vis Sci. 2017. PMID: 28192796
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Riveiro-Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, Ávila-Fernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R. Riveiro-Álvarez R, et al. Among authors: perez carro r. JAMA Ophthalmol. 2015 Feb;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266. JAMA Ophthalmol. 2015. PMID: 25356532 Free PMC article.
21 results