Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF, Perea-Romero I, Núñez-Moreno G, de la Fuente L, Romero R, Ávila-Fernandez A, Trujillo-Tiebas MJ, Riveiro-Álvarez R, Almoguera B, Martín-Mérida I, Del Pozo-Valero M, Damián-Verde A, Cortón M, Ayuso C, Minguez P. Iancu IF, et al. Among authors: martin merida i. Int J Mol Sci. 2022 Jul 29;23(15):8431. doi: 10.3390/ijms23158431. Int J Mol Sci. 2022. PMID: 35955564 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. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1045-1053. doi: 10.1167/iovs.16-20515. Invest Ophthalmol Vis Sci. 2017. PMID: 28192796
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. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2345-2354. doi: 10.1167/iovs.18-23854. Invest Ophthalmol Vis Sci. 2018. PMID: 29847639
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.
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
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. 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
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
Del Pozo-Valero M, Riveiro-Alvarez R, Blanco-Kelly F, Aguirre-Lamban J, Martin-Merida I, Iancu IF, Swafiri S, Lorda-Sanchez I, Rodriguez-Pinilla E, Trujillo-Tiebas MJ, Jimenez-Rolando B, Carreño E, Mahillo-Fernandez I, Rivolta C, Corton M, Avila-Fernandez A, Garcia-Sandoval B, Ayuso C. Del Pozo-Valero M, et al. Am J Ophthalmol. 2020 Nov;219:195-204. doi: 10.1016/j.ajo.2020.06.027. Epub 2020 Jun 30. Am J Ophthalmol. 2020. PMID: 32619608 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. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
23 results