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Page 1
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F, Blanco-Kelly F, Sanchez-Jimeno C, Avila-Fernandez A, Arteche A, Bustamante-Aragones A, Rodilla C, Rodríguez-Pinilla E, Riveiro-Alvarez R, Tahsin-Swafiri S, Trujillo-Tiebas MJ, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Martinez-Granero F, et al. Among authors: arteche a. NPJ Genom Med. 2021 Mar 25;6(1):25. doi: 10.1038/s41525-021-00188-7. NPJ Genom Med. 2021. PMID: 33767182 Free PMC article.
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF, Avila-Fernandez A, Arteche A, Trujillo-Tiebas MJ, Riveiro-Alvarez R, Almoguera B, Martin-Merida I, Del Pozo-Valero M, Perea-Romero I, Corton M, Minguez P, Ayuso C. Iancu IF, et al. Among authors: arteche a. NPJ Genom Med. 2021 Feb 23;6(1):18. doi: 10.1038/s41525-021-00182-z. NPJ Genom Med. 2021. PMID: 33623043 Free PMC article.
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: arteche a. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I, Aguilera-Garcia D, Fernandez-San Jose P, Blanco-Kelly F, Zurita O, Almoguera B, Garcia-Sandoval B, Avila-Fernandez A, Arteche A, Minguez P, Carballo M, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: arteche a. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854. Invest Ophthalmol Vis Sci. 2018. PMID: 29847639
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.
Author Correction: 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 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. Sci Rep. 2021. PMID: 33972629 Free PMC article. No abstract available.
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C. Del Pozo-Valero M, et al. Among authors: arteche a. Am J Ophthalmol. 2019 Nov;207:204-214. doi: 10.1016/j.ajo.2019.05.014. Epub 2019 May 24. Am J Ophthalmol. 2019. PMID: 31129250
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. Zazo-Seco C, et al. Among authors: arteche a. J Hum Genet. 2020 May;65(5):487-491. doi: 10.1038/s10038-020-0726-x. Epub 2020 Feb 3. J Hum Genet. 2020. PMID: 32015378 Clinical Trial.
Cohort Profile Update: 2015 Pelotas (Brazil) Birth Cohort Study－follow-ups from 2 to 6-7 years, with COVID-19 impact assessment.
Murray J, Leão OAA, Flores TR, Demarco FF, Tovo-Rodrigues L, Oliveira IO, Arteche A, Blumenberg C, Bertoldi AD, Domingues MR, Silveira MF, Hallal PC. Murray J, et al. Among authors: arteche a. Int J Epidemiol. 2024 Apr 11;53(3):dyae048. doi: 10.1093/ije/dyae048. Int J Epidemiol. 2024. PMID: 38609323 Free PMC article. No abstract available.
57 results