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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2010 1
2011 2
2012 1
2013 2
2014 3
2016 1
2017 1
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2019 1
2020 2
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2023 1
2024 0

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17 results

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Page 1
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: gonzalez del pozo m. Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937. Sci Rep. 2017. PMID: 28157192 Free PMC 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: gonzalez del pozo m. 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.
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, Rodríguez De La Rúa Franch E. Morillo Sánchez MJ, et al. Among authors: gonzalez del pozo m. Ophthalmic Genet. 2019 Jun;40(3):288-292. doi: 10.1080/13816810.2019.1633547. Epub 2019 Jul 2. Ophthalmic Genet. 2019. PMID: 31264930
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. 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.
Copy-number variations in EYS: a significant event in the appearance of arRP.
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G. Pieras JI, et al. Among authors: gonzalez del pozo m. Invest Ophthalmol Vis Sci. 2011 Jul 29;52(8):5625-31. doi: 10.1167/iovs.11-7292. Invest Ophthalmol Vis Sci. 2011. PMID: 21519034 Free 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: gonzalez del pozo m. Int J Mol Sci. 2020 Dec 8;21(24):9355. doi: 10.3390/ijms21249355. Int J Mol Sci. 2020. PMID: 33302505 Free PMC article.
17 results