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

Year Number of Results
2007 1
2008 1
2009 1
2010 6
2011 2
2012 3
2013 4
2014 2
2015 1
2017 1
2018 2
2019 2
2020 3
2021 12
2022 4
2023 1
2024 1

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45 results

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Page 1
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Among authors: jaijo t. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: jaijo t. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC 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.
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B, Solarat C, Perea-Romero I, Jaijo T, Blanco-Kelly F, Millán JM, Ayuso C, Valverde D. Bea-Mascato B, et al. Among authors: jaijo t. Genes (Basel). 2021 Feb 16;12(2):282. doi: 10.3390/genes12020282. Genes (Basel). 2021. PMID: 33669459 Free PMC article.
Expanding the Genetic Landscape of Usher-Like Phenotypes.
Fuster-García C, García-García G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millán JM. Fuster-García C, et al. Among authors: jaijo t. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4701-4710. doi: 10.1167/iovs.19-27470. Invest Ophthalmol Vis Sci. 2019. PMID: 31725169
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B, Aller E, Rodríguez Muñoz A, Jaijo T, García García G, Millán JM. García Bohórquez B, et al. Among authors: jaijo t. Front Cell Dev Biol. 2021 Jul 13;9:645600. doi: 10.3389/fcell.2021.645600. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34327195 Free PMC article.
USH2A Gene Editing Using the CRISPR System.
Fuster-García C, García-García G, González-Romero E, Jaijo T, Sequedo MD, Ayuso C, Vázquez-Manrique RP, Millán JM, Aller E. Fuster-García C, et al. Among authors: jaijo t. Mol Ther Nucleic Acids. 2017 Sep 15;8:529-541. doi: 10.1016/j.omtn.2017.08.003. Epub 2017 Aug 12. Mol Ther Nucleic Acids. 2017. PMID: 28918053 Free PMC article.
Genetic Screening of the Usher Syndrome in Cuba.
Santana EE, Fuster-García C, Aller E, Jaijo T, García-Bohórquez B, García-García G, Millán JM, Lantigua A. Santana EE, et al. Among authors: jaijo t. Front Genet. 2019 May 22;10:501. doi: 10.3389/fgene.2019.00501. eCollection 2019. Front Genet. 2019. PMID: 31231422 Free PMC article.
45 results