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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2009 1
2010 3
2011 2
2012 1
2013 1
2014 2
2015 4
2016 4
2017 1
2018 1
2019 2
2021 2
2024 0

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23 results

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Page 1
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.
Hereditary primary lateral sclerosis and progressive nonfluent aphasia.
Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J. Gazulla J, et al. Among authors: sanchez alcudia r. J Neurol. 2019 May;266(5):1079-1090. doi: 10.1007/s00415-019-09235-x. Epub 2019 Mar 5. J Neurol. 2019. PMID: 30834979 Free article.
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. Among authors: sanchez alcudia r. Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Sci Rep. 2016. PMID: 26806561 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: sanchez alcudia 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: sanchez alcudia 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: sanchez alcudia 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
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, Perez-Carro R, Zurita O, Sanchez-Bolivar N, Lopez-Molina MI, Garcia-Sandoval B, Riveiro-Alvarez R, Ayuso C. Fernandez-San Jose P, et al. Among authors: sanchez alcudia r. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2173-82. doi: 10.1167/iovs.14-16178. Invest Ophthalmol Vis Sci. 2015. PMID: 25698705
23 results