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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC, Cerrada V, Moreno-Izquierdo A, García-Consuegra I, Laberthonnière C, Delourme M, Garesse R, Arenas J, Fuster García C, García García G, Millán JM, Magdinier F, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: fuster garcia c. Int J Mol Sci. 2022 Nov 12;23(22):13964. doi: 10.3390/ijms232213964. Int J Mol Sci. 2022. PMID: 36430443 Free PMC article.
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. 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.
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: garcia garcia g. 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: fuster garcia c. Front Genet. 2019 May 22;10:501. doi: 10.3389/fgene.2019.00501. eCollection 2019. Front Genet. 2019. PMID: 31231422 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. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4701-4710. doi: 10.1167/iovs.19-27470. Invest Ophthalmol Vis Sci. 2019. PMID: 31725169
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM. Aparisi MJ, et al. Among authors: garcia garcia g, fuster garcia c. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7. Orphanet J Rare Dis. 2014. PMID: 25404053 Free PMC article.
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C. García-García G, et al. Among authors: fuster garcia c. Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020. Mol Vis. 2020. PMID: 32214787 Free PMC article.
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM, Ayuso C. Galbis-Martínez L, et al. Among authors: fuster garcia c. Acta Ophthalmol. 2021 Dec;99(8):922-930. doi: 10.1111/aos.14795. Epub 2021 Feb 11. Acta Ophthalmol. 2021. PMID: 33576163 Free PMC article.
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