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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Raggio V, Dell'Oca N, Simoes C, Tapié A, Medici C, Costa G, Rodriguez S, Greif G, Garrone E, Rovella ML, Gonzalez V, Halty M, González G, Shin JY, Shin SY, Kim C, Seo JS, Graña M, Naya H, Spangenberg L. Raggio V, et al. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. Hum Genomics. 2021. PMID: 33971976 Free PMC article.
3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.
Spangenberg L, Graña M, Greif G, Suarez-Rivero JM, Krysztal K, Tapié A, Boidi M, Fraga V, Lemes A, Gueçaimburú R, Cerisola A, Sánchez-Alcázar JA, Robello C, Raggio V, Naya H. Spangenberg L, et al. Among authors: raggio v. Mitochondrion. 2016 May;28:54-9. doi: 10.1016/j.mito.2016.03.006. Epub 2016 Mar 24. Mitochondrion. 2016. PMID: 27017994
A novel mutation in the OAR domain of the ARX gene.
Tapie A, Pi-Denis N, Souto J, Vomero A, Peluffo G, Boidi M, Ciganda M, Curbelo N, Raggio V, Roche L, Pastro L. Tapie A, et al. Among authors: raggio v. Clin Case Rep. 2017 Jan 23;5(2):170-174. doi: 10.1002/ccr3.769. eCollection 2017 Feb. Clin Case Rep. 2017. PMID: 28174645 Free PMC article.
Malignant Infantile osteopetrosis.
Vomero A, Tapie A, Arroyo C, Raggio V, Peluffo G, Dufort G. Vomero A, et al. Among authors: raggio v. Rev Chil Pediatr. 2019 Aug;90(4):443-447. doi: 10.32641/rchped.v90i4.987. Rev Chil Pediatr. 2019. PMID: 31859718 Free article. English, Spanish.
Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease.
Alonso M, Zabala C, Mansilla S, De Brun L, Martínez J, Garau M, Rivas G, Acosta C, Lens D, Cerisola A, Graña M, Naya H, Puentes R, Spangenberg L, Raggio V, Lemes A, Castro L, Quijano C. Alonso M, et al. Among authors: raggio v. Mitochondrion. 2021 Nov;61:31-43. doi: 10.1016/j.mito.2021.09.004. Epub 2021 Sep 16. Mitochondrion. 2021. PMID: 34536563
33 results