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Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort.
Carrizosa-Molina T, Casillas-Díaz N, Pérez-Nadador I, Vales-Villamarín C, López-Martínez MÁ, Riveiro-Álvarez R, Wilhelm L, Cervera-Juanes R, Garcés C, Lomniczi A, Soriano-Guillén L. Carrizosa-Molina T, et al. Among authors: lopez martinez ma. Clin Epigenetics. 2023 Dec 13;15(1):191. doi: 10.1186/s13148-023-01612-8. Clin Epigenetics. 2023. PMID: 38093359 Free PMC article.
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. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2173-82. doi: 10.1167/iovs.14-16178. Invest Ophthalmol Vis Sci. 2015. PMID: 25698705
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. PLoS One. 2016 Apr 12;11(4):e0151943. doi: 10.1371/journal.pone.0151943. eCollection 2016. PLoS One. 2016. PMID: 27070432 Free PMC article.
Five years' experience of the clinical exome sequencing in a Spanish single center.
Arteche-López A, Ávila-Fernández A, Riveiro Álvarez R, Almoguera B, Bustamante Aragonés A, Martin-Merida I, López Martínez MA, Giménez Pardo A, Vélez-Monsalve C, Gallego Merlo J, García Vara I, Blanco-Kelly F, Tahsin Swafiri S, Lorda Sánchez I, Trujillo Tiebas MJ, Ayuso C. Arteche-López A, et al. Among authors: lopez martinez ma. Sci Rep. 2022 Nov 10;12(1):19209. doi: 10.1038/s41598-022-23786-6. Sci Rep. 2022. PMID: 36357507 Free PMC 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. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
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