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Year Number of Results
2002 2
2006 1
2009 2
2012 1
2013 4
2014 3
2015 1
2016 3
2017 1
2018 1
2020 2
2021 1
2022 3
2023 2
2024 1

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Page 1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Unusual clinical phenotype of Stargardt disease.
Molina-Solana P, Morillo-Sánchez MJ, Méndez-Vidal C, Ramos-Jiménez M, Domínguez-Serrano B, Antiñolo G, Rodríguez-de-la-Rúa-Franch E. Molina-Solana P, et al. Among authors: mendez vidal c. Arq Bras Oftalmol. 2021 Jul-Aug;84(4):391-394. doi: 10.5935/0004-2749.20210064. Arq Bras Oftalmol. 2021. PMID: 34008801 Free article.
Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.
Fernández-Suárez E, González-Del Pozo M, García-Núñez A, Méndez-Vidal C, Martín-Sánchez M, Mejías-Carrasco JM, Ramos-Jiménez M, Morillo-Sánchez MJ, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Fernández-Suárez E, et al. Among authors: mendez vidal c. Front Cell Dev Biol. 2023 Jul 21;11:1197744. doi: 10.3389/fcell.2023.1197744. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37547476 Free PMC article.
Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study.
Puppo Moreno AM, Bravo-Gil N, Méndez-Vidal C, Adsuar Gómez A, Gómez Ruiz FT, Jiménez De Juan C, Fernández García RM, Martín Bermúdez R, López Sánchez JM, Martín Sastre S, Fernández Caro M, Gallego P, Borrego S. Puppo Moreno AM, et al. Among authors: mendez vidal c. Rev Esp Cardiol (Engl Ed). 2023 Jun;76(6):434-443. doi: 10.1016/j.rec.2022.10.005. Epub 2022 Oct 25. Rev Esp Cardiol (Engl Ed). 2023. PMID: 36307044 English, Spanish.
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Bravo-Gil N, et al. Among authors: mendez vidal c. Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937. Sci Rep. 2017. PMID: 28157192 Free PMC article.
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M, Fernández-Suárez E, Bravo-Gil N, Méndez-Vidal C, Martín-Sánchez M, Rodríguez-de la Rúa E, Ramos-Jiménez M, Morillo-Sánchez MJ, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: mendez vidal c. NPJ Genom Med. 2022 Mar 4;7(1):17. doi: 10.1038/s41525-022-00286-0. NPJ Genom Med. 2022. PMID: 35246562 Free PMC article.
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G. Dopazo J, et al. Among authors: mendez vidal c. Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13. Mol Biol Evol. 2016. PMID: 26764160 Free PMC article.
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G. Pozo MG, et al. Among authors: mendez vidal c. Am J Med Genet A. 2015 Jul;167(7):1597-600. doi: 10.1002/ajmg.a.37003. Epub 2015 Mar 30. Am J Med Genet A. 2015. PMID: 25823529
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
González-Del Pozo M, Fernández-Suárez E, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: mendez vidal c. J Transl Med. 2020 Feb 12;18(1):73. doi: 10.1186/s12967-020-02258-3. J Transl Med. 2020. PMID: 32050993 Free PMC article.
26 results