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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.
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. 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: bravo gil n. 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.
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: bravo gil n. 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.
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: bravo gil n. 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: bravo gil n. 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.
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M, Bravo-Gil N, González-Del Pozo M, Méndez-Vidal C, Fernández-Suárez E, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Martín-Sánchez M, et al. Among authors: bravo gil n. Int J Mol Sci. 2020 Dec 8;21(24):9355. doi: 10.3390/ijms21249355. Int J Mol Sci. 2020. PMID: 33302505 Free PMC article.
16 results