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2004 1
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2013 5
2014 2
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60 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.
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: jaijo t. 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.
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B, Barberán-Martínez P, Aller E, Jaijo T, Mínguez P, Rodilla C, Fernández-Caballero L, Blanco-Kelly F, Ayuso C, Sanchis-Juan A, Broekman S, de Vrieze E, van Wijk E, García-García G, Millán JM. García-Bohórquez B, et al. Among authors: jaijo t. Mol Ther Nucleic Acids. 2024 Oct 28;35(4):102374. doi: 10.1016/j.omtn.2024.102374. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39629117 Free PMC article.
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.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blázquez A, Quesada-Espinosa JF, Amigo J, Minguez P, Ayuso C, García-Arumí E, Muelas N, Jaijo T, Nascimento A, Galán-Rodriguez B, Paradas C, Arenas J, Carracedo A, Martí R, Martín MA, Domínguez-González C; for TK2d Spanish-Group. Ceballos F, et al. Among authors: jaijo t. Neurol Genet. 2024 Mar 25;10(2):e200138. doi: 10.1212/NXG.0000000000200138. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38544965 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
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.
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.
60 results