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Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.
Sanabria-de la Torre R, Martínez-Heredia L, González-Salvatierra S, Andújar-Vera F, Iglesias-Baena I, Villa-Suárez JM, Contreras-Bolívar V, Corbacho-Soto M, Martínez-Navajas G, Real PJ, García-Fontana C, Muñoz-Torres M, García-Fontana B. Sanabria-de la Torre R, et al. Among authors: martinez navajas g. Front Endocrinol (Lausanne). 2022 Apr 14;13:863940. doi: 10.3389/fendo.2022.863940. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35498405 Free PMC article.
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, Gómez Vida JM, de Haro T, García-Fontana B, Muñoz-Torres M. García-Fontana C, et al. Among authors: martinez navajas g. Sci Rep. 2019 Jul 2;9(1):9569. doi: 10.1038/s41598-019-46004-2. Sci Rep. 2019. PMID: 31267001 Free PMC article.
GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant.
Lamolda M, Montes R, Simón I, Perales S, Martínez-Navajas G, Lopez-Onieva L, Ríos-Pelegrina R, Del Moral RG, Griñan-Lison C, Marchal JA, Lozano ML, Ramos-Mejia V, Rivera J, Bastida JM, Real PJ. Lamolda M, et al. Among authors: martinez navajas g. Stem Cell Res. 2019 Dec;41:101603. doi: 10.1016/j.scr.2019.101603. Epub 2019 Oct 15. Stem Cell Res. 2019. PMID: 31698193 Free article.
Generation of a H9 Clonal Cell Line With Inducible Expression of NUP98-KDM5A Fusion Gene in the AAVS1 Safe Harbor Locus.
Domingo-Reinés J, Martínez-Navajas G, Montes R, Lamolda M, Simón I, Castaño J, Ríos-Pelegrina R, Lopez-Hidalgo JL, García Del Moral R, Marchal JA, Real PJ, Ramos-Mejía V. Domingo-Reinés J, et al. Among authors: martinez navajas g. Front Cell Dev Biol. 2022 Jun 1;10:846092. doi: 10.3389/fcell.2022.846092. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35721502 Free PMC article.
Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C.
Martinez-Navajas G, Ceron-Hernandez J, Simon I, Lupiañez P, Diaz-McLynn S, Perales S, Modlich U, Guerrero JA, Martin F, Sevivas T, Lozano ML, Rivera J, Ramos-Mejia V, Tersteeg C, Real PJ. Martinez-Navajas G, et al. Mol Ther Nucleic Acids. 2023 Jun 12;33:75-92. doi: 10.1016/j.omtn.2023.06.008. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37416759 Free PMC article.