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

Year Number of Results
2002 1
2005 1
2006 1
2007 4
2008 2
2009 1
2010 4
2011 5
2012 6
2013 2
2014 2
2015 2
2016 7
2017 4
2019 1
2020 2
2021 9
2022 5
2023 1
2024 1

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53 results

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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. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.
Noninvasive prenatal diagnosis of monogenic disorders.
Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Rodríguez de Alba M, et al. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S171-9. doi: 10.1517/14712598.2012.674509. Epub 2012 Apr 16. Expert Opin Biol Ther. 2012. PMID: 22507053 Review.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M. Rodilla C, et al. Am J Ophthalmol. 2023 Oct;254:87-103. doi: 10.1016/j.ajo.2023.05.015. Epub 2023 Jun 15. Am J Ophthalmol. 2023. PMID: 37327959 Free article.
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. Among authors: trujillo tiebas mj. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Recommendations for the use of microarrays in prenatal diagnosis.
Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos. Suela J, et al. Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. Med Clin (Barc). 2017. PMID: 28233562 English, Spanish.
Late onset retinitis pigmentosa.
Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP. Avila-Fernández A, et al. Among authors: trujillo tiebas mj. Ophthalmology. 2011 Dec;118(12):2523-4. doi: 10.1016/j.ophtha.2011.07.030. Ophthalmology. 2011. PMID: 22136677 No abstract available.
Gene symbol: EPM2A.
Trujillo-Tiebas MJ, Gómez-Garré P, Fenolla-Cortés M, Lorda-Sánchez I, Serratosa JM, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2007 Apr;121(2):289. Hum Genet. 2007. PMID: 17598204 No abstract available.
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I, Solarat C, Blanco-Kelly F, Sanchez-Navarro I, Bea-Mascato B, Martin-Salazar E, Lorda-Sanchez I, Swafiri ST, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Minguez P, Corton M, Valverde D, Ayuso C. Perea-Romero I, et al. NPJ Genom Med. 2022 Jul 14;7(1):41. doi: 10.1038/s41525-022-00311-2. NPJ Genom Med. 2022. PMID: 35835773 Free PMC article.
Gene symbol: EPM2A.
Trujillo-Tiebas MJ, Gómez-Garré P, Pérez-González N, Lorda-Sánchez I, Serratosa JM, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2007 Apr;121(2):290. Hum Genet. 2007. PMID: 17598230 No abstract available.
53 results